WELCOME TO RARE DISEASE DAY

AT NIH, ONE OF MY FAVORITE DAYS

FOR TWO REASONS REALLY.

ONE IS I LOVE THIS FIELD.

IT'S BEEN MY FIELD SINCE I WAS

IN TRAINING, AND THE PEOPLE

ASSOCIATED WITH RARE DISEASES

ARE A REMARKABLE GROUP,

INTELLECTUALLY AND IN TERMS OF

COMMITMENT TO SCIENCE AND

MEDICINE THEY DO EVERY DAY.

AND THE FACT THAT IT'S UNUSUALLY

CONNECTED WITH THE PATIENTS WHO

ARE AFFECTED, ALSO A SPECIAL

FEATURE OF THIS COMMUNITY, AND I

THINK A LOT OF YOU RECOGNIZE

THAT AND REPRESENT THAT.

AND WE'RE REALLY GLAD TO HAVE

ALL OF YOU WITH US TODAY.

I'M CHRIS  AUSTIN, DIRECTOR OF

THE NATIONAL CENTER FOR

ADVANCING TRANSTRANSLATION

SCIENCE, A COMPONENT OF NIH, THE

HOME FOR RARE DISEASES AT THE

NIH, ALL THE NIH INSTITUTES DO

RARE DISEASE RESEARCH OF ONE

SORT OR ANOTHER BUT N CATS IS

SORT OF A CONTAINER, IF YOU

WILL, AND YOU'LL BE HEARING FROM

A NUMBER OF OUR PEOPLE THROUGH

THE COURSE OF THE DAY ABOUT SOME

OF THE WORK THAT'S GOING ON AT

NCATS.

THE FIRST PERSON THAT I WANT TO

INTRODUCE TO ALSO WELCOME YOU TO

THE DAY IS OUR PARTNER IN

RUNNING RARE DISEASE DAY EVERY

YEAR, NCATS PARTNERS WITH THE

CLINICAL CENTER, ANOTHER OF THE

OF THE COMPONENTS THAT MAKES UP

THE THE EVERY YEAR TO PUT ON

RARE DISEASE DAY.

AND I HAVE THE DISTINCT HONOR

AND PRIVILEGE OF INTRODUCING JIM

GILMAN, WHO IS THE FIRST CHIEF

EXECUTIVE OFFICER OF THE

CLINICAL CENTER, JUST STARTED A

FEW MONTHS AGO, AND HE OVERSEES

THE DAY-TO-DAY OPERATIONS OF

THIS REMARKABLE PLACE, THE

WORLD'S LARGEST RESEARCH

HOSPITAL.

HE COMES TO US AFTER A VERY

DISTINGUISHED CAREER OF FOUR

DECADES OF MILITARY SERVICE,

œINCLUDING UP AT FORT DETRICK IN

FREDERICK AND A NUMBER OF OTHER

HOSPITALS ALL OVER THE COUNTRY,

AND AFTER HE RETIRED FROM THE

ARMY A COUPLE OF YEARS AGO HELD

A SENIOR POSITION AT JOHNS

HOPKINS FROM WHICH WE STOLE HIM

A FEW MONTHS AGO.

SO I'D LIKE TO INTRODUCE JIM,

HAVE YOU GET TO KNOW HIM A

LITTLE BIT, THE CLINICAL CENTER

DOES A VERY LARGE AMOUNT OF

RESEARCH IN HUNDREDS OF RARE

DISEASES, AND SO IT'S IMPORTANT

FOR YOU TO GET TO KNOW HIM AND

VICE VERSA.

AFTER JIM GIVES HIS REMARKS,

HE'S GOING TO INTRODUCE JOHN

GALLIN, WHO I THINK ALL OF YOU

KNOW, WHO HAS TAKEN ON A NUMBER

OF NEW POSITIONS SCIENTIFICALLY

AT THE CLINICAL CENTER THAT I'LL

LET JIM DESCRIBE. 

SO, JIM, PLEASE.

[APPLAUSE] 

>> WELL, GOOD MORNING.

AND WELCOME TO YOU ALL.

AS CHRIS SAID, I'M KIND OF A NEW

GUY AROUND HERE, SO FOR THOSE OF

YOU THAT WANT THE TOUR, I

WOULDN'T LET ME BE YOUR TOUR

GUIDE.

I'M STILL KIND OF FIGURING THAT

OUT.

THIS IS ACTUALLY -- I STARTED

EXACTLY EIGHT WEEKS AGO TODAY,

AND I CAN GET MYSELF LOST BUT I

WOULD HATE TO GET YOU LOST.

THAT WOULDN'T BE A VERY GOOD

THING TO DO.

ALMOST AS SOON AS I ARRIVED,

SOME MEMBERS OF THE STAFF TALKED

TO ME ABOUT RARE DISEASE DAY AND

TRIED TO DESCRIBE FOR ME WHAT IT

WAS.

AND I WAS A LITTLE PERPLEXED.

THEY SAID, THERE WILL BE A LOT

OF PEOPLE HERE.

I SAID, OH, THAT'S GOOD.

THEY SAID, WELL, THERE WILL BE

PEOPLE FROM CAPITOL HILL AND

CONGRESS THAT ARE HERE.

I SAID, WELL, THAT'S OKAY.

AND THEN THEY SAID THERE WOULD

BE MEMBERS OF ADVOCACY GROUPS

AND OTHER INTERESTED PARTIES

HERE.

I SAID, OKAY, BUT WHAT IS IT?

AND SO THIS IS THE TENTH -- IT'S

MY FIRST RARE DISEASE DAY, THE

TENTH OVERALL AND THE SEVENTH IN

WHICH THE NIH HAS BEEN PART OF

THIS CELEBRATION. 

BUT IT WAS THIS -- LET ME SEE

WHAT I CAN DO HERE.

OH, NO. 

THERE WE GO.

[ MUSIC ] 

>> TEDDY IS THOUGHT OR PRESUMED

PRIMARY DISEASE MITOCHONDRIAL

DISEASE COMPLEX 3 WITH MILAF

SYNDROME CONNECTED TO IT.

IT CAME TO BE DIAGNOSED AS A

PATIENT HERE IN 2004, FOR TEDDY

IT LOOKS LIKE ALS IN IS A CHILD

LIKE YOUR CHILD IS MELTING AWAY

LIKE A CANDLE,, LOSING HIS

SHAPE, ABILITIES, TRUNK MUSCLES

HAVE BECOME WEARER OVER TIME,

LOSING SKILLS, COGNITION, ALL

SORTS OF THINGS BECAUSE

EVERYTHING IS MELTING.

TO BE HIS PRIMARY CAREGIVER IS

EXHAUSTING.

I FEEL LIKE I HAVE A CHILD WHO

IS 16 YEARS OLD CHRONOLOGICALLY

BUT STUCK AT 8 OR 9 YEARS OLD,

INSTEAD OF DRIVING A CAR A KID

NEEDS CHILD CARE.

I SPENT NUMEROUS HOURS SCOURING

THE INTERNET TRYING TO LINK

TOGETHER HIS SYMPTOMS AND

STUMBLED ACROSS THE NIH CLINICAL

TRIAL PAGE.

SINCE THEN, WE'VE BEEN HERE AND

WE CANNOT BE MORE GRATEFUL.

AND SO THAT RESEARCH HERE

ESPECIALLY WITH DR. McGWIRE

DIGGING IN AND SAYING WE DON'T

KNOW WHY IDIG WORKS WITH THESE

KIDS BUT WE KNOW IT WORKS, WE'VE

SEEN IT WORK 95% OF THE TIME,

IT'S BEEN A HUGE BENEFIT.

TEDDY OUTLIVED HIS LIFE

EXPECTANCY BECAUSE OF IT.

HE'S OUTLIVED IT WELL.

HE'S NOT JUST SURVIVING. 

HE'S THRIVING.

[ MUSIC  

>> WHEN THEY SHOWED ME THAT, I

SAID, NOW I UNDERSTAND WHAT RARE

DISEASE DAY IS.

AND I CAN LOOK FORWARD TO IT AS

MUCH AS EVERYBODY ELSE.

THESE ARE SOME STATISTICS,

YOU'LL SEE NUMBERS OF 6,000 OR

7,000 DIFFERENT TYPES OF RARE

DISEASES, AND EVEN THOUGH

INDIVIDUALLY THEY MAY QUALIFY AS

RARE DISEASES, THERE ARE A LOT

OF PEOPLE IN THIS COUNTRY THAT

ARE IMPACTED, AND A LOT OF

PEOPLE AROUND THE WORLD.

MANY OF THESE ARE GENETIC IN

ORIGIN, AND MOST -- MANY OF THEM

AFFECT CHILDREN, WHICH OBVIOUSLY

HAS AN EMOTIONAL IMPACT FOR MANY

OF US HERE AND MANY OUTSIDE OF

HERE.

WE ARE VERY PROUD TO DO THIS

WORK INVOLVING RARE DISEASES, AT

THE NIH CLINICAL CENTER, AS THE

LARGEST HOSPITAL IN THE WORLD

TOTALLY DEDICATED TO CLINICAL

RESEARCH, AND WE STUDY MORE RARE

DISEASES THAN ANY PLACE ELSE IN

THE WORLD.

THIS IS A GRAPH THAT MIGHT BE

HARD FOR YOU TO SEE, DOWN AT THE

BOTTOM, RARE DISEASES HAVE A BIG

FOOTPRINT AT THE NIH CLINICAL

CENTER.

WE CURRENTLY HAVE PROTOCOLS

INVOLVING 534 DISEASES WITH

ALMOST 800 PROTOCOLS, WHICH IS

ABOUT HALF OF THE PROTOCOLS WE

HAVE ONGOING CURRENTLY AT THE

CLINICAL CENTER.

MANY OF THESE ARE CLINICAL

TRIALS, WHERE WE ARE TESTING

SOME SORT OF INTERVENTION OR

THERAPY FOR THE RARE DISEASE,

AND A NUMBER ALSO INVOLVE

NATURAL HISTORY STUDIES AND

THERE ARE A FEW PROTOCOLS THAT

INVOLVE BOTH.

IT INVOLVES A SIGNIFICANT NUMBER

OF OUR PRINCIPAL INVESTIGATORS,

OVER HALF THE PRINCIPAL

INVESTIGATORS WHO HAVE PROTOCOLS

AT THE NIH CLINICAL CENTER HAVE

A PROTOCOL INVOLVING A RARE

DISEASE, AND WE HAVE OVER 15,300

PATIENTS ENROLLED IN THOSE RARE

DISEASES.

AT THE BOTTOM, YOU CAN SEE THAT

THE LEADING INSTITUTE INVOLVED

IN THESE TRIALS IS THE NATIONAL

CANCER INSTITUTE, FOLLOWED BY

THE NATIONAL INSTITUTE FOR

ALLERGY AND INEFFECT SUS

DISEASES, FOR KIDNEY DISEASE AND

NATIONAL HEART, LUNG AND BLOOD

INSTITUTE.

ALMOST EVERY INSTITUTE THAT DOES

RESEARCH AT THE CLINICAL CENTER

HAS SOME WORK THAT INVOLVES RARE

DISEASES.

DR. GALLIN, WHO WILL FOLLOW ME,

WILL TALK TO YOU A LITTLE BIT

MORE ABOUT WHY STUDYING RARE

DISEASES IS SO IMPORTANT TO US.

I WOULD INVITE YOUR ATTENTION TO

THESE PAINTINGS THAT ARE IN THE

ATRIUM, THE NORTH ENTRANCE OF

THE CLINICAL CENTER.

THESE ARE BEAUTIFUL CHILDREN WHO

HAVE BEEN IMPACTED BY RARE

DISEASES.

WE ARE GRATEFUL TO PATRICIA

FAIRLAND WELLTON, CEO AND

FOUNDER OF THE RARE DISEASE

UNITED FOUNDATION WHO MADE IT

POSSIBLE FOR US TO DISPLAY THESE

PICTURES.

AND WHEN I WALK PAST THEN EVERY

DAY, IT'S REALLY QUITE A MOMENT.

I WILL PUT IN ANOTHER PLUG FOR

ANOTHER OPPORTUNITY TO TALK

ABOUT THE CLINICAL CENTER.

MAY 18th ON THE DISCOVERY

CHANNEL WILL BE THE FIRST OF

THREE TWO-HOUR EPISODES WHICH IS

A DOCUMENTARY OF WHAT WE DO HERE

IN BUILDING 10, THE TITLE IS

SIMPLY "BUILDING 10, FIRST IN

HUMAN," THIS DISCOVERY CHANNEL

CREW SPENT QUITE A LONG PERIOD

OF TIME HERE CHRONICLING THE

JOURNEYS OF FOUR FAMILIES WHO

WERE HAVING -- WERE UNDERGOING

LIFE-CHANGING LIFE-ALTERING

TREATMENT HERE AT THE CLINICAL

CENTER, AND DESCRIBES THEIR

ROLE.

NOT ALL OF THE TRIALS, NOT ALL

OF THE PATIENTS  TURNED OUT TO

HAVE A SUCCESSFUL RESULT.

THIS WILL BE A VERY POWERFUL

DOCUMENTARY.

OVER THREE WEEKS.

AND IT IS BEING NARRATED BY JIM

PARSONS, WHO YOU ALL KNOW AS

SHELDON ON THE BIG BANG THEORY.

JIM PARSONS WAS HERE A COUPLE OF

WEEKS AGO.

I HAD A CHANCE TO SPEND ABOUT 45

MINUTES IN A GROUP WITH HIM, AND

HE IS VERY, VERY IMPRESSED AND

VERY, VERY MUCH LOOKING FORWARD

TO BEING PART OF THIS WORK AND

TALKING ABOUT THE NIH CLINICAL

CENTER.

SO I HOPE YOU'LL HAVE A CHANCE

TO TUNE IN AND WATCH SOME OF

THAT DOCUMENTARY.

FINALLY, IF THERE'S ANYTHING WE

CAN DO TO MAKE YOUR VISIT TO THE

CLINICAL CENTER MORE ENJOYABLE,

I HOPE YOU'LL JUST GRAB ONE OF

US WHO WORKS HERE EVERY DAY AND

LET US KNOW WHAT IT IS.

WE WANT YOU TO -- THIS IS NOT MY

HOSPITAL.

THIS IS NOT JUST A HOSPITAL FOR

THE PEOPLE WHO WORK HERE.

THIS IS AMERICA'S HOSPITAL, AND

WE WANT YOU TO FEEL AT HOME

HERE.

IT'S NEXT MY PLEASURE TO WELCOME

SOMEBODY WHO ALMOST ALL OF YOU

KNOW, THAT'S DR. GALLIN, WHO IS

THE NIH ASSOCIATE DIRECTOR FOR

CLINICAL RESEARCH, AND THE CHIEF

SCIENTIFIC OFFICER OF THE

CLINICAL CENTER, AND WE ARE VERY

PROUD TO REMIND PEOPLE THAT DR.

GALLIN RECEIVED THE PRESTIGIOUS

ABBEY AWARD ON NOVEMBER 16 THAT

HONORS THOSE WHO GIVE RARE

DISEASE PATIENTS A VOICE IN

STATE AND FEDERAL POLICY, AND

AWARD IS NAMED IN HONOR OF ABBEY

MYERS, FOUNDER OF THE NATIONAL

ORGANIZATION FOR RARE DISORDERS,

AND HER WORK TO PASS ORPHAN DRUG

ACT.

NORD IS ONE OF THE SUPPORTERS

FOR OUR EVENT TODAY. 

DR. GALLIN.

[APPLAUSE] 

>> THANK YOU, DR. GILMAN.

AND WELCOME AND GOOD MORNING.

IT'S A THRILL TO HAVE EVERYBODY

BACK FOR RARE DISEASES DAY,

WHICH IS A SPECIAL MOMENT IN ALL

OF OUR LIVES.

SO IF WE COULD GET THIS ON THE

SCREEN WE CAN GET -- THERE WE

GO.

SO WHAT I WANTED TO DO TODAY IS

JUST TELL YOU ABOUT A FEW THINGS

THAT IN MY CAREER I'VE BEEN

DOING TO REFLECT WHAT ONE CAN DO

FROM A RESEARCH PERSPECTIVE TO

HELP PATIENTS, WE HOPE, WITH

RARE DISEASES.

AND TODAY'S INTERNATIONAL RARE

DISEASE DAY HAS A THEME,

RESEARCH.

AND A SLOGAN, WITH RESEARCH,

POSSIBILITIES ARE LIMITLESS.

AND THIS YEAR, WE RECOGNIZE THE

CRUCIAL ROLE PATIENTS PLAY IN

RESEARCH AS ADVOCATES FOR

SPECIAL DISEASES OR ACROSS

DISEASES, AS FUNDERS RAISING

MONEY FOR CLINICAL TRIALS OR

RESEARCH PROJECTS, AS PARTNERS

IN THE GOVERNANCE OF RESEARCH,

AND AS PARTICIPANTS AND

VOLUNTEERS IN OUR STUDIES.

HERE AT THE CLINICAL CENTER OVER

THE YEARS AS DR. GILMAN SAID

WE'VE HAD A HEAVY EMPHASIS ON

RARE DISEASES.

I'VE TAKEN A FEW SNAPSHOTS FOR

THIS SLIDE TO GIVE YOU A SENSE

OF WHAT HAS HAPPENED.

BACK WHEN THE CLINICAL CENTER

OPENED IN THE LATE 1950s, AND

EARLY 19660s, GESTATIONAL CORE

YO CARCINOMA WAS CURED USING

METHOTREXATE, THE FIRST USE OF A

CHEMOTHERAPY APPROACH FOR

TREATMENT OF CANCER AND SPAWNED

THE FIELD OF CHEMOTHERAPY FOR

CANCER.

THE FEW YEARS LATER, ENZYME

REPLACEMENT WAS USED FOR THE

FIRST TIME FOR GAUCHER'S

DISEASE, AND THAT OBSERVATION IN

ADDITION TO HELPING MANY

PATIENTS ACTUALLY WAS THE EVENT

THAT INITIATED THE FOUNDING OF

AMGEN.

A FEW YEARS LATER IN THE LATE

60s AND 70s TANGIER DISEASE

WAS DESCRIBED, LOW HDL,

LIPOPROTEIN, THE CHILDREN GOT

HEART ATTACKS AND OFTEN DIED IN

TEENAGE YEARS AND THIS WAS A

STUDY THAT NOT ONLY LED TO

HELPING THESE CHILDREN BUT MORE

IMPORTANTLY FROM A PUBLIC HEALTH

POINT OF VIEW DEMONSTRATED THE

IMPORTANCE OF LIPIDS AS

BIOMARKERS FOR CARDIOVASCULAR

DISEASE.

LATER, THE IDENTIFICATION OF THE

CAUSE OF CYSTINOSIS WAS DEFINED

HERE, LEADING TO CONCEPT OF

POTENTIAL APPROACHES FOR

TREATMENT.

THE FIRST TREATMENT OF WEGENER'S

GRANULOMATOSIS FOR NON-CANCER

PURPOSES WITH CHEMOTHERAPEUTIC

AGENT WAS DONE HERE LEADING TO

THE CURE OF THAT DISEASE.

THE EARLY USE OF IMMUNE THERAPY

FOR INTERFERON GAMMA IN CHRONIC

GRANULOMA DISEASE, CGD, WAS DONE

HERE, AND THE FIRST IN HUMAN

EBOLA VACCINE TESTS WERE DONE

HERE.

SO THIS IS JUST A SNAP SHOT.

LOTS OF THINGS HAVE HAPPENED.

SO WHAT I WANTED TO DO IS JUST

TO SUMMARIZE FOR YOU HOPEFULLY

IN SIMPLE TERMS A FEW REASONS

WHY WE PUT SUCH EMPHASIS ON RARE

DISEASES HERE AT THE CLINICAL

CENTER.

FIRST OF ALL, WE HAVE AN UNUSUAL

ABILITY TO ASSEMBLE COHORTS OF

PATIENTS WITH RARE DISEASES,

BECAUSE WE CAN BRING PATIENTS

HERE FROM ALL OVER THE COUNTRY,,

DEED ALL  -- INDEED ALL OVER THE

WORLD AND KEEP THEM AS LONG AS

NECESSARY TO UNDERSTAND THE

PROBLEM.

WE DON'T HAVE TO BILL THEM, FOR

EXAMPLE.

MORE IMPORTANTLY, WE BELIEVE

THAT THESE PATIENTS NEED HOPE,

AND THIS PLACE PROVIDES HOPE TO

PATIENTS AND THEIR FAMILIES.

AND THAT'S NOT A NEW CONCEPT.

WHEN THE HOSPITAL FIRST OPENED

IN 1953, A LOCAL NEWSPAPER SHOWN

ON THE LEFT BOTTOM OF THE SLIDE

DESCRIBED THIS PLACE AS THE

HOUSE OF HOPE FOR HUMAN ILLS,

AND LATER IN 2004 THE LATE SUSAN

BUTLER AT THE RIBBON CUTCUTTING

OUR NEW MARK O HATFIELD CLINICAL

RESEARCH CENTER AGAIN CALLED

THIS  PLACE THE HOUSE OF HOPE
AND

DR. COLLINS, DIRECTOR OF NIH,

HAS TAKEN ADVANTAGE OF THAT WITH

A PIN AND CONSTANTLY SPEAKIN UP

THAT THE H IN NIH REALLY STANDS

FOR HOPE.

THE HOPE AT THE NIH.

AND FINALLY, THE CLINICAL CENTER

HAS TAKEN ADVANTAGE OF THE FACT

THAT STUDYING RARE DISEASES IS

OFTEN A WINDOW TO COMMON

DISEASES.

LET ME GIVE YOU TWO EXAMPLES,

ONE ABOUT HOW RARE DISEASES CAN

BE A WINDOW TO COMMON DISEASES,

AND THE SECOND HOW THE CLINICAL

CENTER IS INDEED A HOUSE FOR

HOPE.

SO I CAN'T HELP BUT SHOW YOU A

LETTER THAT WAS WRITTEN IN THE

1600s BY WILLIAM HARVEY, THE

PERSON WHO FOUNDED OR RECOGNIZED

THAT THE CIRCULATORY SYSTEM.

AND HE WROTE IN HIS LETTER,

NATURE IS NOWHERE ACCUSTOMED

MORE OPENLY TO DISPLAY HER

SECRET MYSTERIES THAN IN CASES

WHERE SHE SHOWS TRACES OF HER

WORKINGS APART FROM THE BEATEN

PATH, NOR IS THERE ANY BETTER

WAY TO ADVANCE THE PROPER

PRACTICE OF MEDICINE THAN TO

GIVE OUR MINDS TO THE DISCOVERY

OF THE USUAL LAW OF NATURE, BY

THE CAREFUL INVESTIGATION OF

CASES OF RARER FORMS OF DISEASE.

IN OTHER WORDS, STUDYING RARE

DISEASES OFTEN CAN GIVE INSIGHTS

INTO CARING FOR COMMON DISEASES.

AND I'VE HAD THE PRIVILEGE OF

PARTICIPATING IN THE CARE AND

STUDY OF A GROUP OF PATIENTS

WITH THE RARE DISEASE CHRONIC

GRANULOM CIRCUMSTANCES CITIES,

CGD, MORTALITY OF 2% PER YEAR OF

INFECTION, AND ABNORMAL ALITIES

OF NADPH OXIDASE, THE

PHAGOCYTES, THE MOST COMMON,

CONVERTS WATER FROM OXYGEN,

HYDROGEN PEROXIDE, CONVERTED TO

CLOROX AND CHLORINE, HOST

DEFENSES AGAINST INFECTION.

IN CHILDREN WITH THIS DISEASE

HAVE TWO MANIFESTATIONS

CLINICALLY.

THEY GET INFECTIONS AND THEY GET

WHAT WE CALL GRANULOMAS WHICH

REPRESENT AGGREGATION OF

MACROPHAGES, ONE OF THE

PHAGOCYTIC CELLS IN THE BLOOD,

LEADING TO SWELLING IN THE LYMPH

NODES, AS SHOWN IN THE UPPER

LEFT CHILD, LEADING TO

OBSTRUCTION OF VITAL STRUCTURES

SUCH AS ESOPHAGUS MAKING IT

DIFFICULT TO SWALLOW, AND

LEADING TO OBSTRUCTION OF OTHER

ORGANS SUCH AS THE BLADDER WHICH

CAN MAKE IT DIFFICULT FOR URINE

TO FLOW FROM THE KIDNEY INTO THE

BLADDER.

IN ADDITION, THEY CAN PRESENT

WITH BAD INFECTIONS.

THIS 11-YEAR-OLD CHILD SHOWN IN

THE BOTTOM HAD THIS LITTLE SORE

ON HIS FINGER, AND WHEN WE

LANCED AND LOOKED AT THE PUS WE

SAW ASPERGILLUS , METASTASIZED
TO

THE BRAIN, HE SURVIVED WITH

VERYAGGRESSIVE TREATMENT.

THE CHILDREN ARE NOW LIVING TO

FULL ADULT LIFE AND THEY ARE

HAVING AN OPPORTUNITY TO RAISE

THEIR OWN FAMILIES, SAFELY,

AND -- I CAN'T SEE.

WELL, SO THEY ARE LIVING LONG,

AND AS WE STUDY THEM WE REALIZE

A REMARKABLE OBSERVATION.

THESE CHILDREN ARE PROTECTED

FROM ANOTHER DISEASE.

THEY ARE PROTECTED FROM

NARROWING OF THE CORONARY AND

GENERAL ARTERIES THROUGHOUT THE

BODY.

THEY ARE PREVENTED OR PROTECTED

FROM ATHEROSCLEROSIS.

THIS IS THE PAPER A FEW YEARS

AGO WE PUBLISHED DEMONSTRATING

THAT AND WE

MEASUREATHEROSCLEROSIS BY

LOOKING AT THE CAROTID ARTERY BY

MRI EXAM AND AS YOU CAN SEE ON

THE LEFT BOTTOM THE DIFFERENCE

BETWEEN THE DIAMETER OF THE RED

CIRCLE AND GREEN CIRCLE, WHICH

IS THE WALL OF THE CAROTID

ARTERY GIVES A MARKER FOR

ATHEROSCLEROSIS, SHOWN ON THE

RIGHT PATIENTS WITH CGD HAVE A

NARROWER CAROTID ARTERY AND

NARROWING OF THAT VESSEL AND

OTHER VESSELS WALL, WHICH IS

ASSOCIATED WITH PROTECTION FROM

ATHEROSCLEROSIS.

SO WE'RE VERY EXCITED ABOUT THAT

BECAUSE WE THINK THAT THIS

PROTECTION, DESPITE INCREASED

RISK IN THESE PATIENTS FOR

ATHEROSCLEROSIS, SUGGESTS THAT

NADPH OXIDASE MAY BE A GOOD

DRUGGABLE TARGET FOR

ATHEROSCLEROSIS IN NORMAL

PEOPLE.

WORKING WITH CHRIS AUSTIN'S TEAM

AND NCATS TEAM WE'RE NOW

SEARCHING FOR POTENTIAL AGENTS

WHICH WILL DO THIS IN NORMAL

SUBJECTS.

LET ME SHIFT IN THE LAST SLIDE

OR TWO TO SHOW YOU HOW THE

CLINICAL CENTER CAN ALSO BE A

HOUSE OF HOPE FOR THESE

PATIENTS.

AND I SHOW YOU A -- ON THIS

SLIDE A PAPER THAT WE PUBLISHED

IN 1978 DESCRIBING THE FIRST

PATIENT WHO HAD A DISEASE THAT

WAS CHARACTERIZED BY RECURRENT

SEVERE INFECTION, ABNORMAL

INFLAMMATION, LEADING IN THIS

CHILD AND IN OTHER CHILDREN WHO

HAVE THIS DISEASE, RECURRENT

INFLAMMATION OF THE MOUTH

REQUIRING SURGICAL INTERVENTION

TO KEEP UP ABILITY OF THESE

CHILDREN TO EAT.

THIS CHILD DIED OF OVERWHELMING

INFECTION, BUT WHAT WE TOLD THE

FAMILY IS THAT WE WERE GOING TO

CONTINUE TO WORK ON THIS

DISEASE, AND WE WEREN'T GOING TO

GIVE UP.

AND JUST THIS OCTOBER, WE

FINALLY PUBLISHED A PAPER, OVER

35 YEARS LATER, THE FINDING,

WHAT THE GENETIC BASIS OF THIS

DISEASE WAS.

AND THIS DISEASE IS A DISEASE OF

ABNORMALITY OF ACTIN PROTEIN

SYSTEM CRITICAL FOR SELF

CONTRACTION, WHEN ABNORMAL AS

SHOWN IN THE  SLIDE ON THE
BOTTOM

NUCLEUS IN BLUE HERNIATES

THROUGH THE PLASMA MEMBRANE OF

THE CELLS.

AND SO WE PUBLISHED A PAPER

DESCRIBING THAT THIS IS A DEFECT

OF A PROTEIN CALLED WDR1, A

CLINICAL PROTEIN FOR REGULATING

ACTIN, AND WE CAN NOW PROVIDE

HOPE TO THESE FAMILIES AND I'VE

GONE BACK TO THE PARENTS OF THE

ORIGINAL PATIENT AND TOLD THEM

THAT, BECAUSE WE CAN NOW

CONSIDER THINGS LIKE BONE MARROW

TRANSPLANTATION AND GENE THERAPY

AND POTENTIALLY HUNTING FOR A

CANDIDATE DRUG FOR TREATING THIS

DISEASE.

SO HOPE IS AN IMPORTANT ELEMENT

OF WHY WE CONTINUE TO STUDY OUR

PATIENTS AT THE CLINICAL CENTER

WHERE WE HAVE AN OPPORTUNITY TO

STUDY DISEASE OVER LONG TIME

FRAME.

OFTEN CLARIFYING THE MECHANISM

OF THE DISEASE, AND

IDENTIFICATION OF THERAPEUTIC

OPPORTUNITIES, PROVIDING HOPE TO

PATIENTS AND THEIR FAMILIES.

SO WITH THAT, I WANT TO THANK

EVERYBODY FOR COMING TODAY.

AND I HOPE THAT YOU WILL ALL

SHARE IN THE GOALS OF STUDYING

AND IMPROVING THE QUALITY OF

LIFE FOR ALL PATIENTS WHO HAVE

RARE DISEASES AND HOPEFULLY SOME

OF THESE STUDIES WILL HAVE

IMPACT ON COMMON DISEASES AND

IMPROVE HEALTH THROUGHOUT THE

WORLD.

SO WITH THAT, I WANT TO

REINTRODUCE DR. CHRIS AUSTIN TO

THE PODIUM, WHO IS GOING TO NOW

TAKE OVER THE SESSION.

CHRIS?

[APPLAUSE] 

>> SO, I WANT TO DO A COUPLE

THINGS NOW.

ONE IS, AS YOU CAN SEE FROM THIS

SLIDE, I'M GOING TO TELL YOU

SOME THINGS THAT ARE GOING ON

CATALYZED BY NIH TO REALLY UP

THE ANTE ON THE WORK THAT IS

GOING ON IN RARE DISEASES.

AND I'LL GET TO THAT IN A

SECOND.

BEFORE I DO THAT, BECAUSE

NEITHER JIM NOR JOHN DID, I WANT

TO TAKE ADVANTAGE OF TELLING YOU

THE OTHER REASON WHY THIS IS MY

FAVORITE DAY OF THE YEAR.

AND THAT'S BECAUSE I GET TO WEAR

JEANS TO WORK!

LOOK AT THAT!

LOOK AT THAT, HUH?

SO I HOPE YOU ALL DID THAT.

[APPLAUSE]

I DON'T KNOW ABOUT YOU ALL BUT

THIS IS A PRETTY STARCHY PLACE.

WE DON'T WEAR JEANS OFTEN, IT'S

ONLY BECAUSE OF YOU WE CAN DO

THIS SO THANK YOU.

THE SECOND THING I WANT TO DO IS

THANK PAT PRINGER AND DAVID

ECKSTEIN FROM THE CLINICAL

CENTER AND NCATS RESPECTIVELY

FOR PUTTING THIS PROGRAM

TOGETHER, DOING ALL OF THE WORK

THAT GOT YOU ALL HERE.

IT'S REALLY A SPECTACULAR

AGENDA, AS I THINK YOU ALL AGREE

AND I WANT TO THANK THEM FOR ALL

THE WORK THAT THEY DID.

[APPLAUSE]

THE THIRD THING I WANT TO TELL

YOU JUST BY WAY OF INTRODUCTION

IS TO PUT THE AGENDA INTO A

LITTLE BIT OF CONTEXT.

ONE OF THE THINGS THAT YOU'LL

HEAR THROUGH THE COURSE OF TODAY

IS EITHER EXPLICITLY OR

IMPLICITLY, IS COMMITMENT.

AND YOU HEARD THAT FROM JIM AND

HIS TALK.

YOU HEARD IT FROM JOHN IN HIS

NOT GIVING UP OVER 35 YEARS

ABOUT PROBLEMS THAT -- IMPORTANT

PROBLEMS THAT COME TO US, AND

ONE OF THE THINGS THAT I HOPE

YOU'LL TAKE AWAY FROM THIS IS

THAT THAT COMMITMENT, I HOPE,

WILL GIVE YOU HOPE, BECAUSE AS

IS OFTEN SAID, HOPE IS ONLY --

CAN ONLY BE MAINTAINED AND

SHOULD ONLY BE MAINTAINED IF

IT'S ACCOMPANIED BY ACTION.

AND WHAT YOU'RE GOING TO HEAR

ABOUT TODAY IS A LOT OF ACTION.

AND I HOPE YOU WILL TAKE THAT TO

HEART TO BOTH BE PART OF THE

ACTION, IF YOU'RE NOT ALREADY,

AND REALIZE THAT YOU ARE NOT

ALONE.

WE'RE WELL AWARE THAT BEING A

MEMBER OF THIS COMMUNITY IS A

VERY LONELY THING SOMETIMES,

PARTICULARLY FOR PATIENTS AND

THEIR FAMILIES.

AND WE TAKE OUR OPPORTUNITY, OUR

PRIVILEGE, TO BE WITH YOU ON

THIS JOURNEY AS JUST THAT.

AND SO I HOPE YOU WILL JOIN WITH

US AND REALIZE THAT YOU'RE NOT

ALONE, AND THAT WE WANT TO BE

WITH YOU THROUGH THIS JOURNEY,

NO MATTER HOW LONG IT TAKES.

WE HOPE THAT TODAY WE WILL --

YOU WILL TAKE AWAY A FEW THINGS.

FIRST IS TO CELEBRATE ALL THAT'S

GOING ON, AND YOU'LL BE HEARING

A LOT OF THAT THROUGH THE COURSE

OF THE DAY.

WE HOPE TO INFORM YOU ABOUT

THINGS THAT ARE GOING ON, BOTH

WILL GIVE YOU HOPE AND INSPIRET

IDEAS.

AND WE WANT TO EMPOWER YOU WITH

BOTH INFORMATION AND IDEAS ABOUT

HOW YOUR OWN WORK CAN BE

ADVANCED BY WHAT YOU HEAR TODAY.

YOU'LL NOTICE THAT THE AGENDA,

IF YOU JUST FLIP THROUGH IT FOR

A SECOND, THE AGENDA IS DIVIDED

INTO A COUPLE SECTIONS.

THE FIRST IS SOME OVERVIEWS OF

WHAT'S GOING ON AT NIH AND

ELSEWHERE, AND THEN SOME

INTERESTING SCIENTIFIC UPDATES

THAT WE THOUGHT WOULD BE

ILLUMINATING BOTH BECAUSE OF THE

SCIENCE THAT'S INVOLVED, BUT

EQUALLY IMPORTANTLY BECAUSE THEY

EACH TEACH US LESSONS WHICH WERE

APPLICABLE TO OTHER DISORDERS.

AND THEN WE'RE GOING TO HAVE A

NUMBER OF UPDATES FROM SOME

PATIENT ADVOCACY ORGANIZATIONS,

UMBRELLA ORGANIZATIONS, AND FROM

THE FDA, AND THEN WE'RE GOING TO

FINISH OFF WITH A COUPLE OF BIG

SHOTS AT THE END, TO MAKE SURE

THAT EVERYBODY STAYS AROUND AND

DOESN'T LEAVE EARLY, THE LAST

TWO TALKS WILL BE BY CONGRESSMAN

LEONARD LANCE, A CO-CHAIR OF THE

CONGRESSIONAL RARE DISEASE

CAUCUS.

HE'S COMING DOWN HERE FROM HIS

HOME IN NEW JERSEY, SPECIFICALLY

TO TALK AT THIS MEETING.

AND FRANCIS COLLINS, WHO A LOT

OF YOU KNOW, WHO IS THE NIH

DIRECTOR, AND A RARE DISEASE

RESEARCHER HIMSELF, IS ALSO

COMING BACK FROM A LONG WEEKEND

SPECIFICALLY TO BE HERE WITH YOU

AT THE END OF THE DAY.

SO I HOPE YOU'LL BE ABLE TO STAY

THROUGH THOSE.

WHAT I'M GOING TO TELL YOU ABOUT

TODAY, RIGHT NOW, IS SOMETHING

THAT I TOOK OVER IN EARNEST

ABOUT A YEAR AGO BUT NIH HAS

BEEN INVOLVED FOR A NUMBER OF

YEARS NOW, AFTER I SPEAK MY

COLLEAGUES PETRA KAUFFMAN AND

ANNE PARISER WILL TELL YOU ABOUT

THE INSTITUTE I RUN, NCATS AND

RARE DISEASES, BECAUSE THEY WILL

TELLING YOU THAT I THOUGHT I

WOULD TAKE THE OPPORTUNITY TO

TELL YOU PROGRESS ON AN

INTERNATIONAL CONSORTIUM THAT

AIMS TO BROADEN THE FIGHT

AGAINST RARE DISEASES.

SO IRDiRC, A FUNNY NAME BUT

WE'RE STUCK WITH IT, THE

INTERNATIONAL RARE DISEASES

CONSORTIUM, WAS ESTABLISHED

ABOUT FIVE YEARS AGO, SIX YEARS

AGO, TO COORDINATE RESEARCH IN

RARE DISEASES GLOBALLY.

THIS WAS THE BRAINCHILD OF

FRANCIS COLLINS, AND ALEXANDRA

(INDISCERNIBLE) THE HEAD OF

RESEARCH AT THE EUROPEAN

COMMISSION, AND THE MODEL, I

THINK BROADLY, WAS ONE THAT HAS

BEEN FOLLOWED BY OTHER

SUCCESSFUL IMPORTANT SCIENTIFIC

ENTERPRISES INCLUDING THE GENOME

PROJECT, THE INTERNATIONAL

CANCER GENOME CONSORTIUM, THE

KNOCKOUT MOUSE OUT CON SORT YUM,
, A

MEDICAL PROBLEM, A SCIENTIFIC

PROBLEM IS NOT UNIQUE TO AN

INDIVIDUAL COUNTRY OR REGION,

BUT RATHER IS A GLOBAL PROBLEM,

A PROBLEM OF HUMANITY.

SO THEREFORE IF WE ALL WORK

TOGETHER TO SHARE OUR INSIGHTS,

COORDINATE OUR FUNDING,

COORDINATE OUR ACTIVITIES, THEN

RESEARCH WILL GO MUCH FASTER.

AND WE NOW HAVE MEMBERS FROM

ABOUT 40 DIFFERENT

ORGANIZATIONS, AND I'LL SHOW YOU

THAT IN A SECOND, FROM EUROPE,

NORTH AMERICA, ASIA, AUSTRALIA,

MIDDLE EAST, SUPPORTING ITS OWN

RESEARCH, THE FOCUS WAS A COMMON

POLICY FRAMEWORK THAT WOULD

ALLOW RESEARCH AND ACTIVITIES

AND RARE DISEASES TO BE

COORDINATED AND THEN AFTER THAT

GOT PUT IN PLACE, WE'RE

BEGINNING TO REALLY IN EARNEST

THINK ABOUT HOW TO WORK ON

ACTUALLY COORDINATING 

PROSPECTIVELY ALL OF OUR WORK,

AMBITIOUS OBJECTIVES ESTABLISHED

IN 2011, LISTED HERE, 200 NEW

THERAPIES FOR RARE DISEASES

APPROVED BY 2020 AND THAT THE

MEANS TO DIAGNOSE MOST RARE

DISEASES WOULD BE IN PLACE BY BY

20.

WHAT'S REMARKABLE IS THAT GIVEN

THE MOBILIZATION OF THE

WORLDWIDE SCIENTIFIC COMMUNITY

OVER THE LAST DECADE, THESE

GOALS HAVE ALREADY BEEN ACHIEVED

BY THE END OF 2016 ACTUALLY, NOT

OF COURSE SIMPLY BY IRDiRC OR

IRDiRC MEMBERS BUT THE RARE

DISEASE COMMUNITY AT LARGE.

SO THIS HAS GIVEN US AN

OPPORTUNITY TO BE EVEN MORE

AMBITIOUS AND VISIONARY IN THE

NEXT OBJECTIVES FOR THE NEXT

DECADE.

I DON'T WANT YOU TO READ THESE

NAMES BECAUSE THE FONT IS TOO

SMALL, BUT THAT'S KIND OF THE

POINT.

AN ORGANIZATION WHICH HAS SO

MANY MEMBERS THAT YOU CAN'T READ

THE NAMES IS A GOOD THING.

AND THERE ARE NOW NOT ONLY

FUNDER MEMBERS BUT COMPANIES,

PATIENT ADVOCACY GROUPS, MANY

SCIENTISTS WHO HAVE JOINED

TOGETHER IN THIS EFFORT FROM ALL

OVER THE WORLD.

WE CALL THIS THE CONSORTIUM

ASSEMBLY BY ANALOGY TO THE

GENERAL ASSEMBLY IN THE U.N. 

AND I DON'T WANT TO GET TOO MUCH

INTO THE STRUCTURE OF THIS BUT I

DO WANT TO GIVE YOU A SENSE OF

HOW THE ORGANIZATION WORKS IN

THAT IT IS ORGANIZED FOR ACTION,

THAT IS THERE IS AN OPERATING

COMMITTEE, SO I'M THE CHAIR OF

THE CONSORTIUM ASSEMBLY.

THERE'S AN OPERATING COMMITTEE

THAT DOES ALL THE ONGOING

COORDINATING ON A BIWEEKLY

BASIS, AND THEIR CONSTITUENT

GROUPS OF THE MANY GLOBAL

FUNDERS COMPANIES WORKING ON

RARE DISEASES, PATIENT ADVOCACY

GROUPS AND SCIENTIFIC

COMMUNITIES WORKING ON

DIAGNOSTICS, WHAT IS CALLED

INTERDISCIPLINARY THINGS LIKE

REGISTRIES, NATURAL HISTORY

STUDIES, ET CETERA, INFORMATICS

PLATFORMS AND NOVEL

THERAPEUTICS, UNDERNEATH THESE

ARE TASKS FORCES WITH FOLKS

WORKING ON COMMON ROAD BLOCKS,

AALLEVIATE THEM AND MOVE FORWARD

ON RARE DISEASE RESEARCH IN A

MORE FAST  -- FACILE WAY.

YOU MAY NOT KNOW SOME OF THESE

PEOPLE, SOME OF YOU MAY, BUT I

WANT TO GIVE YOU A SENSE OF JUST

HOW -- WHAT A GLOBAL EFFORT THIS

IS, THAT THE FUNDERS COMMITTEE

IS RUN BY DARIA JULKOWSKA FROM

THE FRENCH NATIONAL RESEARCH

AGENCY, REALLY PUTTING THE POINT

ON HOW GLOBAL THIS IS, HER

CO-CHAIR IS IN AUSTRALIA SO WE

HAVE MANY PHONE CALLS AT FUNNY

TIMES OF THE DAY.

THE PATIENT ADVOCACY GROUP IS

RUN BY SOMEBODY THAT I THINK A

LOT OF YOU KNOW, IF NOT ALL OF

YOU KNOW, SHARON TERRY, WHO IS

THE HEAD OF GENETIC ALLIANCE IN

THE UNITED STATES, CO-CHAIR IS

FROM EURORDIS, BEATRICE DE

MONTLEAU, AND COMPANY RUN BY

DAVID THOMPSON, A VERY SENIOR

RESEARCH EXECUTIVE AT SHIRE,

CURRENTLY THE WORLD'S LARGEST

RARE DISEASE COMPANY.

THE SCIENTIFIC CHAIRS ARE

SIMILARLY INTERNATIONALLY,

DIAGNOSTIC CHAIR RUN BY KYM

BOYCOTT IN CANADA, THE CO-CHAIR

ALSO BEING FROM AUSTRALIA,

FOUNDATIONAL ONE RUNS BY HANNS

LUCKMULLER IN THE UK AND

CO-CHAIR PETRA KAUFFMAN FROM THE

FROM HER IN A SECOND.U'LL HEAR

THE THERAPIES COMMITTEE IS RUN

BY DIEGO ARDIGO FROM CIESI IN

ITALY.

WHEN YOU PUT THEM TOGETHER,

MATCH HAPPENS.

THEY ARE COMMITTED AND REALIZE

THEY CAN NOT MAKE MAXIMAL

HEADWAY ALONE.

AND SO ON THE MOST GLOBAL WAY,

WE'RE TYING TOGETHER TO MAKE

PROGRESS AS RAPIDLY AS POSSIBLE.

THE MISSION OF THESE COMMITTEES

IS TO IDENTIFY GLOBALLY WHAT ARE

THE MAJOR ROADBLOCKS THAT ARE

IMPEDING HEADWAY.

I MEAN, I THINK WE CAN AND

SHOULD CELEBRATE THE STORY THAT

JOHN TOLD YOU FROM 1978 TO LAST

YEAR BUT WHAT WE ALL WANT IS FOR

THIS TO HAPPEN IN A FEW YEARS,

NOT IN 35 YEARS.

TREATMENTS, SIMILARLY.

10, 15, 20 YEARS IT TAKES TO

DEVELOP A TREATMENT, DOES IT

REALLY HAVE TO TAKE THAT LONG?

AND WHAT ARE THE ROAD BLOCKS

HOLDING THEM BACK?

ARE THERE THINGS ONE COUNTRY CAN

LEARN FROM ANOTHER THAT WILL

ACCELERATE THAT PROCESS?

AND ONCE THOSE ROADBLOCKS ARE

IDENTIFIED THEN TASKS FORCES ARE

IDENTIFIED TO ADDRESSES THEM AND

WORK PLANS, A LOT OF THIS HAS TO

DO WITH ESTABLISHING COMMON BEST

PRACTICES, OPERATING PROCEDURES,

SO THAT PROTOCOLS, INFORMATION,

DATA CAN BE SHARED IN A SEAMLESS

WAY, AND INFORMING EACH OF THE

OTHER COMMITTEES OF WHAT'S GOING

ON.

I JUST WANT TO GIVE YOU A SENSE

OF HOW WE'RE THINKING ABOUT THE

NEXT GOALS, THE ORIGINAL GOALS

AS I MENTIONED HAVE BEEN

ACHIEVED THREE YEARS EARLY.

AND THEY WERE FORMULATED VIA A

REMARKABLY -- THESE NEW GOALS

THAT WE'RE STILL FINALIZZIZING

BEEN GOING ON VIA BROADLY 

CONSULTATIVE PROCESS INVOLVING

THE RARE DISEASE COMPANIES ALL

OVER THE WORLD, NOT JUST FUNDERS

BUT COMPANIES DEVELOPING

DIAGNOSTICS AND TREATMENT,

PATIENT ADVOCACY GROUPS FROM

FROM CROSS THE GLOBE, AND

SCIENTISTS WORKING ON RARE

DISEASES.

WE JUST HAD AN INTERNATIONAL

CONFERENCE TWO WEEKS AGO IN

PARIS WHERE WE CAME VERY CLOSE

TO FINALIZING THESE GOALS.

ANYBODY WHO HAS EVER TRIED TO DO

SOMETHING WITH A GROUP THIS

LARGE KNOWS THAT GETTING

CONSENSUS ON THESE GOALS IS

IMPORTANT, AND HAVING EVERYONE

HEARD IS IMPORTANT.

ONE ONLY DOES IT ONCE A DECADE,

AND WE WANT PEOPLE TO REALLY BUY

INTO THESE.

SO I'M NOT GOING TO TELL YOU

WHAT THE FINAL GOALS ARE NOW BUT

I'LL GIVE YOU A INTERNATIONAL

HAD OF THEM, AND THEY WILL BE

PUBLISHED IN APRIL.

SO THE MISSION, THIS IS

IMPORTANT FOR YOU TO TAKE AWAY.

THE MISSION THAT ALL OF US TAKE

EXTREMELY SERIOUSLY IS THAT THE

GOAL IS TRANSFORMATION.

IT'S NOT INCREMENTALISM.

THE STATE OF THE PROBLEM OF RARE

DISEASE RESEARCH IS NOT ONE THAT

IS GOING TO BE SOLVED BY 10%

IMPROVEMENTS.

WE NEED TO THINK ABOUT TEN-FOLD

IMPROVEMENTS, A HUNDRED-FOLD

IMPROVEMENT, REQUIRING FUNDERS

AND PATIENT ADVOCACY GROUPS TO

THINK IN DIFFERENT WAYS AND

CATALYZE RADICALLY MORE

EFFICIENT, AND EFFECTIVE

PARADIGMS.

ONE OF THE REALLY EXCITING

THINGS ABOUT THE CONFERENCE THAT

WAS HELD IN PARIS A FEW WEEKS

AGO IS THAT A NUMBER OF THESE IN

DIAGNOSTICS AND THERAPEUTIC

DEVELOPMENT HAVE ALREADY BEEN

DEVELOPED AND DEMONSTRATED,

DEMONSTRATED IN TALKS AT THAT

MEETING.

SO IT'S VERY CLEAR THAT THESE

THINGS THAT WE'RE TALKING ABOUT

ARE NOT A PIPE DREAM.

THEY ARE POSSIBLE.

THEY ARE INDIVIDUAL CASES WHERE

THEY HAVE BEEN DEVELOPED AND

DEMONSTRATED IN INDIVIDUAL

CIRCUMSTANCES SO WE NEED TO FIND

OUT HOW GENERALIZABLE AND THEY

ARE AND FIGURE OUT HOW TO

DISSEMINATE THEM MORE BROADLY,

BUT THE FACT THAT THE PROOF OF

PRINCIPLE HAS BEEN DONE IS

ENORMOUSLY EXCITING AND SHOULD

BE ENORMOUSLY EXCITING TO ALL OF

YOU.

AND WHEN I SATED  -- SAT BACK AT
THE

END OF THE CONFERENCE, AN

EXHILARATING WEEK, I THOUGHT

WHAT IS THE COMMON FACTOR ACROSS

IN EVERY ONE OF THE EXAMPLES OF

THESE RADICAL IMPROVEMENTS THAT

WE HEARD ABOUT, AND IT WAS

ALWAYS THE SAME.

ALWAYS THE SAME.

IT WAS SHARING.

SHARING OF KNOWLEDGE, SHARING OF

DATA, WHICH IS A LITTLE

DIFFERENT FROM KNOWLEDGE.

SHARING OF KNOWLEDGE, SHARING OF

DATA, SHARING OF INFRASTRUCTURE,

NOT HAVING TO REBUILD THE SAME

THING ALL OVER AGAIN.

SHARING OF EXPERTISE, SHARING OF

VIEWPOINTS, AND THAT IS WHAT LED

TO THESE REMARKABLE ADVANCES

THAT WE SAW AT THE CONFERENCE,

AND IT'S REALLY THE FUNDAMENTAL

BASIS OF WHY IRDiRC WAS

CREATED IN THE FIRST PLACE.

SO WE AGREED ON A VISION, AND

ANYBODY WHO HAS EVER DONE THIS

KNOWS THAT ONE STARTS WITH A

VISION AND ONE GOES TO A MISSION

AND THEN ONE HAS GOALS AND

OBJECTIVES AND THINGS.

AND THE VISION, IRDiRC VISION

THAT WE AGREED TO, WHICH IS

REALLY IMPORTANT, IS TO ENABLE

ALL PEOPLE LIVING WITH A RARE

DISEASE AND NOTICE WE SAID ALL

PEOPLE LIVING WITH A RARE

DISEASE, NOT RARE DISEASE

PATIENTS.

RARE DISEASE PATIENTS ARE PEOPLE

DIAGNOSED WITH A RARE DISEASE.

THESE ARE PATIENTS MAYBE NOT

DIAGNOSED YET, LIVING WITH RARE

DISEASE, TO RECEIVE A DIAGNOSIS,

CARE, SUPPORTIVE CARE, OTHER

CARE WHICH MAY NOT BE A SPECIFIC

DRUGS BUT THINGS THAT ARE

INCREDIBLY EFFECTIVE TO HELP

QUANTITY OF LIFE ONE ONE YEAR OF

COMING TO SUBSPECIALTY MEDICAL

ATTENTION.

THAT IS A RADICALLY DIFFERENT

WORLD THAN THE ONE IN WHICH WE

LIVE.

BUT YOU NEED TO KNOW THAT THE

LEADERS OF THESE ORGANIZATIONS

ARE COMMITTING THEMSELVES TO

THIS VISION BECAUSE WE THINK

IT'S POSSIBLE.

AND WE HAVE COMMITTED OUR SELVES

TO THIS VISION AND ARE WORKING

VERY HARD ON THE NEXT -- ON THE

GOALS FOR THE NEXT DECADE TO

REALIZE THIS VISION.

SO I HOPE YOU'LL STAY TUNED.

IF YOU'RE INTERESTED IN MORE

INFORMATION ON THE ORGANIZATION,

THERE'S OF COURSE A WEBSITE, AND

I'M THE CHAIR, MY E-MAIL, AND

THE CO-CHAIR IS HUGH DAWKINS.

I'M GOING TO NOW TURN OVER THE

PODIUM TO PETRA KAUFFMAN.

PETRA IS A RARE DISEASE

RESEARCHER, WHO CAME TO US FROM

COLUMBIA UNIVERSITY, A NUMBER OF

YEARS AGO, WHERE SHE WORKED ON

MITOCHONRIAL DISEASES AND

NEUROMUSCULAR DISEASES, STILL

WORKS ON THOSE DISORDERS, WAS AT

THE NATIONAL INSTITUTE OF

NEUROLOGICAL DISEASES AND STROKE

OR A NUMBER OF YEARS AND THEN

WAS FORTUNATE ENOUGH TO BE ABLE

TO RECRUIT HER TO NCATS A COUPLE

YEARS AGO.

SHE'S GOING TO BE ON THE DAIS

HERE WITH ANNE PARISER WHO I

HOPE A LOT OF YOU KNOW, SPENT A

DECADE AND A HALF AT THE FDA

WORKING ON RARE DISEASES AND

WE'RE EXTREMELY FORTUNATE RIGHT

BEFORE THE HIRING FREEZE TO GET

HER OVER TO NIH.

AND WITH CHUCK MOHAN, WHO HAS A

NUMBER OF ROLES.

HE'S A MITOCHONDRIAL DISEASE

ADVOCATE BUT IS ALSO CHAIR THE

RARE DISEASES CLINICAL RESEARCH

NETWORK COALITION OF PATIENT

ADVOCACY GROUPS.

WHAT YOU'LL HEAR FROM THEM IS

THIS -- IS THIS VISIONING THAT

I'VE BEEN TALKING ABOUT WITH

IRDiRC, INSTANTIATED IN THE

UNITED STATES, AND GETTING INTO

OTHER COUNTRIES BUT NOW WE'RE

GOING TO DRILL DOWN FROM FROM

THE BIG VISION, CLINICAL CENTER,

IRDiRC, DOWN TO INDIVIDUAL

ORGANIZATIONS AND SO LET ME TURN

THIS OVER TO PETRA.

[APPLAUSE]

>> THANK YOU, CHRIS.

SO GOOD MORNING, EVERYBODY.

AND THANK YOU SO MUCH FOR COMING

HERE HERE IN SUPPORT OF RARE

DISEASES DAY.

IT MATTERS VERY MUCH THAT YOU'RE

HERE.

AND I WANT TO TELL YOU WHY.

MANY OF YOU IN THE AUDIENCE HAVE

PATIENTS WITH RARE DISEASES IN

THEIR FAMILIES, AND ARE DIRECTLY

AFFECTED, BUT I'M SURE THAT ALL

OF US IN OUR EXTENDED FAMILIES

OR AMONG OUR FRIENDS KNOW PEOPLE

AFFECTED BY RARE DISEASES IN THE

AGGREGATE, IT'S 30 MILLION

AMERICANS WHO ARE LIVING WITH

RARE DISEASES AND MANY MORE

WORLDWIDE.

WE NOW HAVE UNUNPRECEDENTED

BECAUSE WE UNDERSTAND FOR MANY

OF THESE DISEASES WHAT CAUSES

THEM.

BUT WE ONLY HAVE TREATMENT STILL

FOR ONLY A FEW HUNDRED.

AND WE ALSO STILL STRUGGLE

DIAGNOSING MANY OF THEM SO THAT

IN THE END THERE'S PROBABLY MANY

MORE PEOPLE LIVING WITH RARE

DISEASES.

SO IT VERY MUCH MATTERS THAT

YOU'RE HERE TODAY BECAUSE FOR

MANY PATIENTS WITH RARE DISEASES

THERE'S PROBABLY A SOLVABLE

SCIENTIFIC PROBLEM IN TERMS OF

FINDING A TREATMENT, AND I THINK

WE CAN ALL WORKING TOGETHER MAKE

A DIFFERENCE.

I STARTED TAKING CARE OF PEOPLE

WITH RARE DISEASES THAT CAUSED

MUSCLE WEAKNESS IN MEDICAL

SCHOOL, AND THE REASON WHY I WAS

DRAWN TO THAT IS BECAUSE AT THE

TIME, LIMITATIONS FOR THESE

DISEASES WERE BEGINNING TO BE

MAPPED AND WE HAD AN INCREASING

UNDERSTANDING OF WHAT CAUSES

THESE DISEASES.

SO I THOUGHT THIS IS SUCH A

CHALLENGING DISEASE, I SAW IT IN

THE CLINIC AND SAW WHAT THESE

FAMILIES AND PEOPLE HAD TO GO

THROUGH, SO I THOUGHT THIS IS

WHAT I WANT TO DO.

THERE'S AN OPPORTUNITY NOW TO

MAKE A BIG DIFFERENCE AND SURELY

THIS WILL CHANGE IN THE NEXT FEW

YEARS.

SO IT DIDN'T QUITE WORK OUT THAT

WAY.

FOR MANY, MANY YEARS.

I COULD USE MY PRESCRIPTION PAD

MOSTLY FOR PRESCRIBING

WHEELCHAIRS, AND FINALLY LAST

YEAR -- IN THE LAST FEW YEARS,

ACTUALLY LAST YEAR, IT CHANGED.

FINALLY THERE WAS TREATMENTS

BEING APPROVED BY THE FDA FOR

SOME OF THESE RARE DISEASS THAT

CAUSE MUSCLE WEAKNESS.

AND I REMEMBER JUST BEFORE THE

HOLIDAYS WE WERE SITTING IN

CLINIC.

DIANA, WHO WILL SPEAK LATER, WE

SEE PATIENTS IN THE SAME CLINIC,

AND WE FOUND OURSELVES PLANNING

HOW WE WOULD OFFER THIS NEWLY

APPROVED TREATMENT TO OUR

PATIENTS AS QUICKLY AS POSSIBLE.

AND IT WAS FOR US SADLY AN

UNUSUAL MOMENT, AS I'M SURE MANY

OTHER MEDICAL SPECIALTIES HAVE

THAT A LOT MORE BUT WE HAD TO

THINK ABOUT HOW WE COULD DEAL

WITH THIS.

AND IT WAS OF COURSE A MOMENT OF

GREAT JOY AND GREAT EXCITEMENT.

HOWEVER, WHEN I WALKED BACK TO

MY CAR AT THE END OF THE DAY, I

ALSO GOT A LITTLE BIT EMOTIONAL

BECAUSE I THOUGHT, YOU KNOW, IF

THIS TOOK 20+ YEARS AND ALL

THESE RESOURCES, ALL THESE

PEOPLE, HOW CAN WE MAKE SURE

THAT WE CANNOT ONLY REACH THESE,

YOU KNOW, FEW DISEASES BUT HOW

CAN WE REACH THOUSANDS OF OTHER

PEOPLE WHO HAVE THESE DISEASES

THAT STILL DON'T HAVE A

TREATMENT?

AND I THINK THE ONLY ANSWER CAN

BE THAT WE HAVE TO WORK

TOGETHER.

AND I WANT TO JUST BRIEFLY TOUCH

ON A FEW POINTS ON I THINK HOW

WE CAN ALL MAKE A DIFFERENCE BY

PARTNERING BY WORKING TOGETHER.

I THINK THESE GIRLS HERE ON THE

TEAM WHO ARE HUDDLING FIGURED

THIS OUT.

THEY EACH HAVE A DISTINCT ROLE

ON THE TEAM BUT THEY KNOW THEY

HAVE TO PULL TOGETHER AND WORK

IN THE SAME DIRECTION TO REALLY

MAKE A DIFFERENCE.

I WANT TO JUST START INTRODUCING

FOUR KEY POINTS THAT ARE

TAKEAWAY POINTS BEFORE

BEFOREHAND IT OVER TO MY

PARTNERS HERE TO TELL YOU MORE

SPECIFICS ABOUT WHAT WE COULD BE

DOING IN EACH OF THESE AREAS.

ONE OF THEM IS THE SMART USE OF

TECHNOLOGIES.

SO WE ALL USE TECHNOLOGY AND IT

HAS CHANGED COMPLETELY THE WAY

WE BANK, THE WAY WE DATE,

EVERYTHING WE DO.

IN MEDICINE WE'RE A LITTLE BIT

BEHIND.

THAT'S FOR A GOOD REASON BECAUSE

WE WANT TO SAFEGUARD PRIVACY.

BUT IT'S REALLY TIME NOW THAT WE

TAKE ADVANTAGE OF THE

OPPORTUNITIES THAT MODERN

INFORMATICS CAN OFFER US IN

ORDER TO SOLVE SOME OF THESE

PUZZLES IN A FASTER, SMARTER

WAY.

THE SECOND POINT, IT'S IMPORTANT

TO SHARE BEST PRACTICES.

THERE'S WISDOM IN THE ROOM,

RESEARCHERS, PATIENTS, HOW CAN

WE MAKE SURE WE SHARE WHAT WORKS

BEST, SHARE OUR TOOLS, OUR DATA,

SO THAT WE CAN ACCELERATE THIS

PROCESS SO IT DOESN'T TAKE 20

YEARS ANYMORE FOR THE NEXT

DISEASES THAT WE'LL FIND A

TREATMENT FOR.

SO PARTNERING IS KEY, AND ALSO

SHARING INFORMATION, MAKING SURE

THAT THE NEXT GENERATION OF

RESEARCHERS, OF ENGINEERS, OF

DATA EXPERTS, ALL GET INTERESTED

IN RARE DISEASES AND LEARN ABOUT

THEM AND KNOW ABOUT THEM AND

REALLY EDUCATING THE PUBLIC IN A

WAY.

I'LL JUST MAKE A COUPLE QUICK

POINTS.

SO I TALKED ABOUT HOW TECHNOLOGY

HAS REALLY CHANGED EVERYTHING.

AND I THINK WE HAVE TO ALL THINK

ABOUT HOW WE CAN MAKE SURE THAT

TECHNOLOGY CAN HELP US.

WE NEED TO INTEGRATE CARE AND

RESEARCH BETTER.

THAT'S HARD.

SO ALL OF US HATE PROBABLY WHEN

OUR DOCTORS LOOK AT THE COMPUTER

BUT IT'S A GOOD THING THAT MAKES

SURE THE DATA CAN ULTIMATELY BE

USED TO ADVANCE RARE DISEASES

RESEARCH AND WE ALSO NEED TO

THINK ABOUT HOW WE CAN INTEGRATE

DATA SO WHEN A PATIENT IS

COLLECTING DATA ON A SMARTPHONE

OR PATIENT ORGANIZATION HAS A

REGISTRY, HOW CAN WE MAKE SURE

THAT IS CONNECTED WITH WHAT

CLINICIANS COLLECT IN THEIR

CLINIC OR RESEARCHERS IN THEIR

NATURAL HISTORY STUDIES.

SO I THINK IF WE CAN FIGURE THIS

OUT, WE CAN GET THERE A LOT

FASTER AND WITH LESS RESOURCES.

SO HARMONIZATION AND

COLLABORATION.

ANOTHER IMPORTANT THING IS THAT

WE MUST MAKE SURE THAT THERE'S

CONTINUITY.

EVERY DATA POINT COUNTS.

RARE DISEASES ARE RARE.

WHEN A FAMILY TAKES THE BURDEN

UPON THEMSELVES TO GO TO A

CLINIC AND SPEND HOURS PROVIDING

INFORMATION TO RESEARCHERS, WE

NEED TO MAKE SURE THAT EVERY

DATA POINT COUNTS, THAT THERE'S

CONTINUITY.

SO WHETHER IT'S A PATIENT

REGISTRY THAT SOME OF YOU

ORGANIZE, NATURAL HISTORY STUDY

THAT CLINICIANS ORGANIZE,

BIOMARKER RESERVE STUDY OR

CLINICAL TRIAL, ALL GENERAL

DATA, IN RARE DISEASES IT'S

PATIENT, PRECIOUS, WE NEED TO

MAKE SURE IT CONTINUES AND THEY

ARE CREATED FROM THE BEGINNING

WITH THE END USERS IN MIND.

SO IN THE END OF THE DAY IT'S

ABOUT GETTING TREATMENTS TO

PATIENTS.

ULTIMATELY THESE DATA SHOULD

PROBABLY GO TO THE FDA.

WE SHOULD THINK FROM THE

BEGINNING WHAT DO THEY HAVE TO

LOOK LIKE SO THEY WILL BE USEFUL

AND THEN NOW WITH ACCELERATED

APPROVAL PATHWAYS MANY TIMES

THERE'S A BURDEN OF

POST-APPROVAL REGISTRY.

WE NEED TO MAKE SURE IT

CONTINUES.

I'LL STOP AND HAND IT OVER TO

ANNE PARISER, OFFICE OF DEPUTY

DIRECTOR OF RARE RESEARCH, TO

MAKE SURE WE HAVE STRONG

PARTNERSHIPS AND CAN ALL WORKING

TOGETHER MAKE SURE IT WON'T TAKE

US AS LONG FOR THE NEXT DISEASES

TO GET A TREATMENT TO PATIENTS.

I'M JUST GOING TO TOUCH BRIEFLY

ON A FEW OF THE MAJOR PROGRAMS

THAT WE HAVE ONGOING AT OFFICE

OF RARE DISEASES RESEARCH THAT

WE HOPE ARE FEEDING INTO WHAT

PETRA DISCUSSED ABOUT

FACILITATING, SUPPORTING AND

ACCELERATING TRANSLATION OF RARE

DISEASES SCIENCE TO PATIENT

CARE.

SO THE FIRST ONE IS I THINK

FAMILIAR TO A LOT OF YOU, RARE

DISEASES CLINICAL RESEARCH

NETWORK, RDCRN.

AND THIS IS A PROGRAM THAT WAS

STARTED ABOUT 12 YEARS AGO, AND

HAS BEEN VERY SUCCESSFUL IN

BRINGING TOGETHER COLLABORATIVE

RESEARCH, PHYSICIANS AND

SCIENTISTS FOCUSED ON COMMON

GOALS.

AND JUST VERY BRIEFLY THERE'S 22

RESEARCH CONSORTIA FOR RARE

DISEASES THAT ARE CLUSTERED

AROUND THERAPEUTIC AREAS OR

DISEASES.

FOR EXAMPLE, YOU RENAL CYCLE OR

LIPOSOMAL OR RARE LUNG DISEASE,

EACH CONSORTIUM IS REQUIRED TO

HAVE AT LEAST THREE, A LOT HAVE

QUITE A FEW MORE, STUDYING 300

RARE DISEASES ONGOING RIGHT NOW.

AND THIS INVOLVES MORE THAN 250

 INVOLVES MORE THAN  MORE THAN
250

INSTITUTES WORLDWIDE.

WE HAVE A WEBSITE HERE THAT I'VE

PUT UP HERE, IT'S RIGHT AT THE

BOTTOM OF THE SLIDE, AND I HOPE

THAT YOU'LL TAKE A FEW MINUTES

TODAY OR THIS WEEK TO LOOK AT

THE EXCITING RESEARCH THAT'S

GOING ON.

THERE'S MORE THAN 70 ACTIVE

PROTOCOLS AND THEY ARE DOING

INTERESTING WORK IN A VERY BROAD

AREA.

WE HAVE GENETICS AND RARE

DISEASE PROGRAM, GARD, A

WEB-BAYSED INFORMATION CENTER.

IF YOU HAVEN'T HAD A CHANCE TO

LOOK AT THIS I URGE YOU TO DO

SO.

THIS IS REALLY A VERY RICH, VERY

ACCESSIBLE RESOURCE THAT HAS

UP-TO-DATE AND RELIABLE

INFORMATION ON THOUSANDS OF

DISEASES, SO YOU CAN EITHER SURF

THE WEBSITE YOURSELF, OR THEY

ALSO HAVE A CONSULTATION

PROCESS.

SO YOU CAN SUBMIT QUESTIONS OR

REQUESTS FOR INFORMATION EITHER

BY E-MAIL OR YOU CAN CALL BY

PHONE AND RECEIVE A CALL BACK

FROM A GENETIC COUNSELOR, SO

THIS SITE GETS ABOUT HALF

MILLION HITS A MONTH, AND

THOUSANDS OF CONSULTS A YEAR

BOTH IN ENGLISH AND SPANISH, SO

PLEASE DO COME TAKE A LOOK AT

THIS.

IT REALLY IS A RICH RESOURCE AND

WE WOULD ALSO APPRECIATE YOUR

FEEDBACK, IF YOU HAVE ANY.

SAY A WORD OR TWO ABOUT THE

GENERAL RARE DISEASES REGISTRY

PROGRAM.

THIS IS -- HAS ALSO BEEN ONGOING

FOR SEVERAL YEARS NOW.

IT WAS ONE OF THE LEADERS IN

TRYING TO DEVELOP TOOLS AND

COMMON DATA ELEMENTS

SPECIFICALLY FOR RARE DISEASE

REGISTRIES AND NATURAL HISTORY

STUDIES.

SOME ONGOING WORK WE HAVE UNDER

DEVELOPMENT NOW IS FOR DATA

STANDARDS AND STUDY DESIGN AND

CONDUCT ADVICE WITH THE PURPOSE

BEING TO SUPPORT THE PEOPLE WHO

ARE DOING THESE REGISTRIES,

PATIENT GROUPS, AS WELL AS

RESEARCH INVESTIGATORS AND

PHYSICIANS.

SO THIS TOO HAS A WEBSITE THAT

IS AT THE BOTTOM OF THE SLIDE.

ALSO I'D LIKE TO JUST TOUCH ON

OUR SCIENTIFIC CONFERENCES

I THINK MANY OF YOU HAVE

PROBABLY BEEN AT SOME OF THE

NCATS-SPONSORED CONFERENCES OR

WORK SHOPS.

WE FUND OR CO-FUND 40 A YEARS,

MOST ARE RARE DISEASE TOPICS,

AND WE SPONSOR A BIG VARIETY OF

RARE DISEASES BUT ALSO MORE

GENERAL TOPICS, HOW TOs OR

BEST PRACTICES OR COALESCING

AROUND THEMES, SO JUST LISTED A

FEW THERE BUT ALSO INCLUDES RARE

DISEASE CLINICAL RESEARCH.

AND THEN THE LAST THING I'D LIKE

TO TOUCH ON HERE IS THE NEW KID

ON THE BLOCK, THE NCATS TOOLKIT

PROJECT, SO IT'S STILL UNDER

CONSTRUCTION BUT IT IS COMING

SOON.

AND WHAT IS IT?

WELL, THIS IS VERY SOMETHING,

THIS WAS INITIATED BY PATIENT

GROUPS THEMSELVES.

THIS WAS A REQUEST TO BRING

TOGETHER A LOT OF THE

INFORMATION THAT'S OUT THERE.

THERE'S A WEALTH OF INFORMATION

ABOUT HOW TO FACILITATE OR

SUPPORT RARE DISEASE RESEARCH IN

A NUMBER OF AREAS, AND IT'S

CONFUSING AND OVERWHELMING, SO

THE PATIENT GROUPS WANTED TO

BRING THESE TOOLS TOGETHER IN A

SINGLE WEBSITE, A SINGLE SOURCE,

THAT WAS USABLE, ACCESSIBLE AND

PRACTICAL FOR USE.

THAT WORK IS ONGOING RIGHT NOW.

AND HERE'S OUR TIME LINE, THE

IDEA STARTED IN 2015.

THERE'S BEEN A LOT OF WORK, JUST

A TREMENDOUS AMOUNT OF WORK BY A

LOT OF PEOPLE, AND WHERE WE ARE

RIGHT NOW IS WE'RE DEVELOPING

AND TESTING THE WEBSITE BUT THE

LAUNCH IS PLANNED FOR SEPTEMBER

OF THIS YEAR.

SO STAY TUNED, PLEASE CHECK BACK

WITH OUR WEBSITE, BUT WE'LL HAVE

MORE INFORMATION FOR YOU ON

THAT.

SO THIS BRINGS ME BACK TO

PETRA'S MAIN THEMES SHE ALREADY

TALKED ABOUT, PERHAPS MOST

IMPORTANT IS ONE IN THE LOWER

LEFT-HAND CORNER ON THIS

PARTNERING AND COLLABORATION.

SO THESE SLIDES ARE UP ON THE

WEBSITE, AND PLEASE TAKE A LOOK

AT THOSE, BUT I'D LIKE TO TURN

IT OVER TO CHUCK NOW WHO IS

GOING TO BE TALKING MORE ABOUT

THE CONSORTIUM OF PATIENT

ADVOCACY GROUPS. 

THANK YOU.

[APPLAUSE]

>> THANK YOU.

SO, I'M TELLING MY 94-YEAR-OLD

MOTHER-IN-LAW THAT I'M COMING TO

THE NIH TO REPRESENT CPAC FOR

RARE DISEASE DAY.

SHE SAID OH MY GOODNESS, WILL

YOU SEE THE PRESIDENT?

[LAUGHTER]

I SAYS, I DON'T THINK -- HE'S

NOT GOING TO BE HERE, RIGHT?

I DON'T THINK  HE'S GOING TO BE

HERE.

SHE SAID HE'S HERE WITH THE VICE

PRESIDENT.

NO, MOM, THAT'S THE CONSERVATIVE

POLITICAL ACTION CONFERENCE.

[LAUGHTER]

AND SHE SAYS, YEAH, CPAC.

SO THIS IS -- [LAUGHTER]

SHE'S 94 YEARS OLD.

THIS IS CPAG, WE ARE PATIENT

GROUPS REPRESENTING THE 24

FUNDED CONSORTIA, AND THERE ARE

140 OF US REPRESENTING THOSE 22

GROUPS.

BUT WHAT I THINK WE'VE FOUND,

WHAT WE'VE DISCOVERED, OUR

SIMILARITIES ARE FAR GREATER

THAN OUR DIFFERENCES SO WE'RE

LOOKING AT PHENOMENAL

OPPORTUNITY TO CROSS-POLLINATE

THOSE SIMILARITIES BETWEEN ALL

THE RARE DISEASE GROUPS

REPRESENTED BY THE PAGs,

PATIENT ADVOCACY GROUPS.

NOW, WE'RE LOOKING AT A

BIDIRECTIONAL COMMUNICATIONS,

HOW CAN WE BE A GOOD LIAISON?

TOO MANY TIMES WE EXPECT THE

RESEARCHERS TO COME TO US, AND

I'M OFFERING A DIFFERENT BEDSIDE

MANNER WHERE THERE HAS TO BE A

BIDIRECTIONAL APPROACH AND

ACTUALLY MEET PEOPLE HALFWAY.

HAVE US COME TO THE RESEARCHERS

AND THIS IS AN ENVIRONMENT, THIS

IS AN OPPORTUNITY, THIS IS WHAT

HAS BEEN CREATED BY THE NIH.

AN ENVIRONMENT THAT IMPACTS AND

ENGAGES PATIENTS.

WE'RE BECOMING MORE PATIENT

CENTRIC THAN WE HAVE BEFORE AND

IT'S UP TO US TO TAKE THE

OPPORTUNITY THAT EXISTS, THE

FORMATION OF CPAG HAS ENABLED US

TO ENGAGE OVER 140 DIFFERENT

PATIENT ADVOCACY GROUPS, FOCUSED

ON ENHANCED TREATMENTS,

NON-INVASIVE BASIC AND POTENTIAL

CRUISER.

A KNEW  PARADIGM IS PLACING

PATIENT PRIORITIES AND VALUES

WITHIN THIS GOVERNMENTAL

FRAMEWORK, WHICH IS VERY, VERY

COMPLICATED BUT THE DOORS ARE

OPENING, IT'S UP TO US TO WORK

TOGETHER TO WALK  THROUGH THE

DOORS.

WE'RE IN THE CENTER.

WE HAVE CLINICAL TRIALS THAT

ARE -- THAT DR. PETER STACK, FOR

THOSE THAT MIGHT KNOW HIM, GIVES

A PRESENTATION ON IMPORTANCE OF

PATIENT REGISTRATION AND

INTEREST IN CLINICAL TRIALS

BECAUSE WE SAY NO PATIENTS, NO

TREATMENTS.

NO TREATMENTS, NO TRIALS.

NO TRIALS, NO DRUGS.

SO IT'S VERY IMPORTANT TO HAVE

AN UNDERSTANDING OF THE ROLE WE

AS PATIENTS PLAY, CPAG, THE

CREATION OF CPAG, DEVELOPED THAT

ROAD MAP ENABLING US TO WALK

THROUGH THOSE OPEN DOORS.

THIS IS THE RDCRN POWER OF

ADVOCACY GROUPS, POWER OF

COALITION.

COLLECTIVELY WE'RE A FORCE, A

CATALYST TO BE AN AID, NOT

DETERRENT IN THE DRUG

DEVELOPMENT PROCESS.

THIS WAS LAST YEAR'S CPAG

MEETING.

WE HAD 18 OUT OF 22 CONSORTIA

REPRESENTED BY OVER 50 PATIENT

ADVOCATES, A PHENOMENAL TURNOUT

WITH A LOT OF INFORMATION BEING

EXCHANGED, BETTER UNDERSTANDING

OF FDA AND GOVERNMENT AGENCIES

WE CAN WORK WITH AS PATIENT

GROUPS.

WE CAME FROM THAT MEETING WITH A

FOCUS ON VARIOUS PROJECTS THAT

WE FEEL CROSS-POLLINATES MANY OF

THE PATIENT DISEASES, THE RARE

DISEASES.

AND THAT STRATEGY IS FOR

BIOMARKER IDENTIFICATION.

WE WANT TO PUT TOGETHER WORKSHOP

WITH BREAKOUT SESSIONS FOR

CLUSTERS OF DISEASES FACING

SIMILAR CHALLENGES AND BIOMARKER

DEVELOPMENT, AND YOU HEARD

MENTION OF THE NCATS TOOLKIT

PROJECT.

WE SEND OUT A SIMPLE SURVEY TO

OVER  140 GROUPS ASKING WHAT

TOOLS THEY ARE USING THAT WOULD

BE BENEFICIAL TO BE PART OF THIS

TOOLKIT PROJECT, AND WE GOT A

GREAT RESPONSE ENABLING US TO BE

A BENEFIT TO THE DEVELOPMENT OF

THE TOOLKIT PROJECT.

SO THERE'S VALUE IN THE PATIENT

ENGAGEMENT.

THERE WAS A PAPER PUBLISHED BY

NCATS AND BY THE CPAG

ORGANIZATION CALLED THE

PARTNERSHIP OF PATIENT ADVOCACY

GROUPS.

THE CONCLUSION, THERE'S POSITIVE

INTERACTIONS AND THERE'S AN

ENHANCEMENT TO THE ENTIRE

PROCESS WITH PATIENT INVOLVEMENT

AND PATIENT ENGAGEMENT.

THERE IS A PROFESSIONAL ASPECT

TO CPAG.

WE HAVE POLICIES AND PROCEDURES.

WE'VE CREATED A STANDARDS

MANUAL.

WE'VE CREATED AND ACTIVE

ADVISORY GROUP WHO WILL BE

MEETING FOR THE FIRST TIME IN

APRIL, TO IDENTIFY THE NEEDS AND

DEVELOP STRATEGIC APPROACHES TO

THOSE NEEDS.

AND WHAT IS MOST IMPORTANT FOR

ME, WE HAVE A SUCCESSION PLAN.

[LAUGHTER]

DETERMINATION.

EVERYBODY IN THIS ROOM IS HERE

FOR THAT REASON.

BUT EVERYBODY IN THIS ROOM HAS

TO REALIZE THAT ONLY TOGETHER

CAN WE PLACE THAT DETERMINATION

FOR RESULTS.

[LAUGHTER]

WE CAN LIFT THE BAR.

WE HAVE TO LIFT IT TOGETHER.

WE HAVE TO COORDINATE OUR

EFFORTS.

WE HAVE TO COMMUNICATE OUR

NEEDS.

WE CAN COLLABORATE FOR SUCCESS.

AND THAT'S WHAT CPAG IS TO GET

US TO TREATMENTS AND CURES. 

THANK YOU.

[APPLAUSE]

>> OKAY.

SO THANKS SO MUCH, ANNE AND

CHUCK.

WE HAVE TIME FOR MAYBE JUST A

COUPLE OF QUESTIONS, IF ANYBODY

WANTS TO GET TO THE MICROPHONE

TO ASK QUESTIONS, PLEASE GO

AHEAD NOW.

OTHERWISE WE INVITE TO LOOK FOR

US DURING THE BREAKS.

WE WOULD BE GLAD TO ENGAGE AND

TALK TO YOU.

SO WE'LL JUST SEE IF THERE'S A

QUESTION FOR ANY OF US HERE

RIGHT NOW.

AND IF NOT, THEN IT IS MY --

THERE'S ONE.

PLEASE GO AHEAD.

PLEASE INTRODUCE YOURSELF

BRIEFLY AND GO AHEAD.

>> HI.

I'M PENNY FITSMORRIS FROM THE

(INDISCERNIBLE) RESEARCH

FOUNDATION.

THE SYNDROME IS A NEW RARE

DISEASE WITH 105 PATIENTS

WORLDWIDE.

SORRY.

ADNP SYNDROME HAS 105 PATIENTS

WORLDWIDE, JUST DISCOVERED IN

2014.

HOW AS A PATIENT ADVOCACY GROUP

DO YOU GET INVOLVED IN NIH FOR

RESEARCH AND CLINICAL TRIALS?

>> SO I CAN MAYBE GET STARTED

AND CHUCK, YOU MIGHT HAVE SOME

BEST PRACTICES THAT YOU COULD

SHARE.

SO IT'S REALLY PLEASE CONTACT

US.

YOU JUST HEARD ABOUT INFORMATION

PROGRAMS WE HAVE ABOUT, YOU

KNOW, SOME OF THE WAYS THAT WE

FUND RESEARCH NETWORKS,

CONFERENCES.

SO PLEASE LOOK FOR OUR CONTACT

INFORMATION, E-MAIL US, TALK TO

US, WE WOULD BE GLAD TO SHARE

WITH YOU, AND I THINK OUR FOCUS

HAS BEEN VERY MUCH ALSO ON

CREATING A COMMUNITY SO PATIENT

GROUPS WHO HAVE ALREADY BEEN IN

THIS LONGER CAN SHARE WHAT THEY

HAVE LEARNED SO THAT YOU DON'T

HAVE TO REINVENT THE WHEEL.

>> I AGREE.

I THINK YOU JUST TOOK THE FIRST

STEP IN INVOLVEMENT BY BEING

HERE AND STANDING UP AND

SPEAKING.

AND I THINK JUST BY CONTACTING

AND INTERACTING WITH THE GROUP

HERE WOULD BE A PHENOMENAL NEXT

STEP.

>> ALL RIGHT.

THANK YOU AND, AGAIN, I SEE NO

FURTHER QUESTIONS NOW BUT PLEASE

FEEL FREE TO COME UP TO US AND

ASK US DURING THE BREAKS.

IT'S NOW MY PRIVILEGE TO

INTRODUCE DR. ANASTASIA WISE

FROM THE DIVISION OF GENOMIC

MEDICINE AT THE NATIONAL HUMAN

GENOME RESEARCH INSTITUTE WHO

WILL GIVE YOU AN UPDATE ON THE

UNDIAGNOSED DISEASES NETWORK.

THANK YOU.

[APPLAUSE]

>> THANK YOU.

[APPLAUSE]

SO I'D LIKE TO THANK THE

ORGANIZERS FOR THE PRIVILEGE OF

BEING ABLE TO SPEAK HERE TODAY

TO YOU RARE DISEASE ABOUT

UNDIAGNOSED DISEASE NETWORK.

I'D LIKE TO PROVIDE YOU WITH A

BRIEF UPDATE ON WHERE WE STAND

WITH OUR MAIN OBJECTIVES FOR THE

UDN.

WE HAVE THREE MAIN OBJECTIVES

FOR THE UNDIAGNOSED DISEASES

NETWORK.

THE FIRST OF THESE IS TO IMPROVE

LEVEL OF DIAGNOSIS AND CARE FOR

PATIENTS THAT HAVE PREVIOUSLY

BEEN UNDIAGNOSED.

SECOND IS REALLY TO FACILITATE

RESEARCH INTO THESE PREVIOUSLY

UNDIAGNOSED OR UNKNOWN

CONDITIONS.

AND THE THIRD IS REALLY TO HELP

CREATE AN INTEGRATED AND

COLLABORATIVE COMMUNITY THAT

HELPS BRING TOGETHER THE

RESEARCHERS, CLINICIANS AND THE

PATIENTS AND PARTICIPANTS TO

HELP IMPROVE CARE AND MANAGEMENT

FOR THESE PARTICIPANTS AND

PATIENTS GOING FORWARD.

STARTING WITH THE FIRST

OBJECTIVE OF DIAGNOSING

INDIVIDUALS WITH PART OF THE

UDN, THE UNDIAGNOSED DISEASES

NETWORK IS NOW FUNDED BY COMMON

FUND OUT OF THE NIH, BUT GOT

STARTED WITH THE UNDIAGNOSED

DISEASES PROGRAM HERE AT THE NIH

CLINICAL CENTER BACK IN 2008.

AND THAT VERY SUCCESSFUL PROGRAM

IS WHAT LED THE COMMON FUND TO

GET INTERESTED IN TRYING TO

EXPAND THIS TO A NETWORK OF

SITES ACROSS THE COUNTRY.

SO IN 2013 WE ADDED THE FIRST OF

OUR NEW UDN SITES, COORDINATING

CENTER AT HARVARD MEDICAL

SCHOOL, ESTABLISHED AN

ADDITIONAL SIX CLINICAL SITES

ACROSS THE COUNTRY, AT HARVARD

TEACHING HOSPITALS, DUKE

UNIVERSITY, VANDERBILT, BAYLOR

COLLEGE OF MEDICINE, UCLA,

STANFORD.

WE ADDED A SERIES OF TWO

SEQUENCING COURSE, ONE AT HUDSON

ALPHA AND ONE AT BAYLOR COLLEGE

OF MEDICINE.

THERE'S ALSO AA(INDISCERNIBLE)

AND THE LAST OF OUR CORES IS A

CENTRAL 

REPOSITORY VANDERBILT, TODAY

WITH 13 SITES TO DIAGNOSE

PATIENTS MOVING FORWARD.

OVER OUR FIRST COUPLE OF YEARS,

OUR ACCOMPLISHMENTS MIGHT NOT

HAVE BEEN AS OBVIOUS AS WE

WORKED TO DEVELOP THE GREAT WAY

FOR PATIENTS TO BE ABLE TO APPLY

TO UDN BUT WE BROUGHT TOGETHER

18 INSURE TUITIONS AND 234

INVESTIGATORS, WITH ONE IRB FOR

THE NETWORS, ALL SITES USE THE

SAME GENERAL CONSENT AND

PROTOCOL, SO REGARDLESS OF WHICH

OF THE SEVEN CLINICAL SITES A

PATIENT GOES TO, THEY ARE GOING

TO RECEIVE THE SAME GENERAL UDN

EXPERIENCE.

WE ALSO ESTABLISHED A DATA

SHARING AND USE AGREEMENT, WHICH

ALLOWS US TO SHARE IDENTIFIABLE

INFORMATION ACROSS ALL OF THE

SITES THAT ARE PART OF THE UDN

SO THAT REGARDLESS OF WHETHER A

SITE IS A CLINICAL SITE OR ONE

OF THE CORE LABORATORIES, ALL OF

THOSE INVESTIGATORS CAN LEARN

THE DETAILS OF THAT PARTICULAR

PATIENT'S CASE WHEN NECESSARY,

IN ORDER TO BE ABLE TO HELP

REACH DIAGNOSES.

IN SEPTEMBER OF 2015 WE

OFFICIALLY LAUNCHED OUR ONLINE

GATEWAY SO PATIENTS COULD APPLY

FOR THE UDN AS A NEW NETWORK.

AND THIS IS HOW THE ACTUAL

APPLICATION PROCESS WORKS.

SO A PARTICPANT CLICKS ON THIS

APPLY BUTTON ON ANY OF OUR UDN

WEB PAGES, THAT WILL BRING THEM

TO AN APPLICATION WHICH ASKS FOR

BASIC DEMOGRAPHIC INFORMATION,

INFORMATION ABOUT SYMPTOMS AND

CONDITIONS, AS WELL AS REFERRAL

LETTER FROM HEALTH CARE

PROVIDER, PRIMARY CLINICIAN,

SOMEONE THAT THEY SEE AT A

CLINIC, IT COULD BE A SPECIALIST

THEY HAD A STRONG INTERACTION

WITH.

ONCE WE'VE RECEIVED THAT

INFORMATION, WE'VE RECEIVED OVER

1200 APPLICATIONS SO FAR, IN

ABOUT THE LAST YEAR-AND-A-HALF.

THOSE APPLICATIONS ARE ASSIGNED

TO THE SEVEN CLINICAL SITES

WHICH THEN TAKE THE MEDICAL

RECORDS AND DO A THOROUGH REVIEW

IN ORDER TO BE ABLE TO SELECT

PATIENTS FOR ACCEPTANCE INTO THE

UDN.

WE'VE HAD OVER 480 PARTICIPANTS

THAT HAVE SO FAR BEEN ACCEPTED

IN THE UDN AS A RESEARCH STUDY.

ONCE THESE PARTICIPANTS ARE

ACCEPTED, THEY ARE THEN

SCHEDULED TO COME IN FOR A

APPROXIMATELY ONE-WEEK THOROUGH

CLINICAL EVALUATION, WHERE THEY

WILL SEE MULTIPLE SPECIALISTS

ACROSS DIFFERENT DISCIPLINES, AS

WELL AS SEQUENCING AT ONE OF THE

TWO SEQUENCING CORES, AND WE

HAVE EXOME AND GENOME SEQUENCING

AVAILABLE FOR PARTICIPANTS AS

WELL AS THEIR FAMILY MEMBERS SO

WE CAN LEARN MORE ABOUT THE

FAMILY IN GENERAL.

AFTER THIS CLINICAL EVALUATION

AND SEQUENCING WE CAN ALSO

UTILIZE THE METABOLOMICS CORE TO

BE ABLE TO LOOK AT METABOLITES

AND COMPARE THEM TO THE

SEQUENCING RESULTS, AS WELL AS

IN OUR MODEL ORGANISM SCREENING

CENTER THERE ARE BOTH FLY AND

FISH MODELS AVAILABLE IN ORDER

TO FOLLOW UP ON VARIANTS THAT

ARE FOUND IN THE PARTICIPANTS.

SO IF FOR EXAMPLE A NEW GENE IS

IDENTIFIED WITH WHAT MAY BE A

NEW CONDITION, WE CAN

POTENTIALLY THEN MODEL THAT IN A

FLY OR FISH MODEL AND DETERMINE

WHETHER OR NOT A PHENOTYPE IS

SEEN WHICH PROVIDES ADDITIONAL

EVIDENCE TO BE ABLE TO BACK UP

THIS PARTICULAR GENE IS INVOLVED

IN A NOVEL CONDITION.

AND THE GOAL IS THAT BY ALL OF

THESE DIFFERENT SITES WORKING

TOGETHER, AS PART OF THE UDN,

WE'RE ABLE TO MAKE DIAGNOSES FOR

THESE PATIENTS.

SO THEN MOVING TO FACILITATING

RESEARCH, THE UDN HAS SO FAR

PUBLISHED FIVE PUBLICATIONS THAT

TALK ABOUT DIAGNOSES FOUND IN

PATIENTS SEEN AS PART OF THE

UDN.

THREE OF THESE FOCUS ON NOVEL

NEURAL DEVELOPMENTAL SYNDROMES,

ONE ON A NEW VARIANT, THAT HAS

BEEN LINKED TO SEX DEVELOPMENT

AND WHETHER AN INDIVIDUAL

DEVELOPS AS MALE OR FEMALE AND

ANOTHER CASE STUDY THAT LOOKED

AT AN INDIVIDUAL THAT ACTUALLY

HAD VARIANTS IN TWO GENES AS

PART OF KNOWN CONDITIONS BUT

BECAUSE THIS INDIVIDUAL ACTUALLY

HAD TWO DIFFERENT CONDITIONS,

THE WAY THEY WERE PRESENTING

CLINICALLY LOOKS LIKE NEITHER OF

THEM.

SO WITHOUT HAVING THE SEQUENCING

RESULTS, THIS INDIVIDUAL MIGHT

NOT HAVE RECEIVED THE DIAGNOSIS.

AND THEN I WANT TO TALK A LITTLE

BIT ABOUT REALLY BRINGING THE

DATA TOGETHER AND CREATING THIS

COLLABORATIVE SHARING COMMUNITY.

THE UDN HAS FOCUSED A LOT ON

BEING ABLE TO MAKE SURE THAT THE

DATA GETS OUT THERE, ON OUR WEB

PAGE WE HAVE OUR MANUAL OF

OPERATIONS AVAILABLE.

IT'S ABOUT A 200-PAGE DOCUMENT

THAT TALKS ABOUT ALL OF THE

PROTOCOLS THAT ARE UTILIZED

ACROSS THE NETWORK FOR THE UDN.

WE'RE ALSO SHARING THE SEQUENCE

DATA ONLINE AS WELL AS THROUGH

PHENOME CENTRAL, INFORMATION

ABOUT GENES SEEN IN

PARTICIPANTS, TO MATCH THEM WITH

OTHER PARTICIPANTS THROUGH THE

MATCHMAKER EXCHANGE.

ANOTHER PROJECT THAT WE HAVE

GOING AT THE UDN IS PARTICIPANT

AND THIS IS REALLY A WAY THAT

WE'RE WORKING WITH THE ACTUAL

PARTICIPANTS THEMSELVES IN ORDER

TO BE ABLE TO SHARE INFORMATION

THAT THEY WOULD LIKE TO BE ABLE

TO GET OUT TO THE BROADER

COMMUNITY.

THIS PROJECT IS NOT REQUIRED FOR

UDN  PARTICIPATION, YOU CAN BE

PART OF THE UDN WITHOUT TAKING

PART IN THE PARTICIPANT WEB

PAGES FORM BUT PEOPLE CAN CHOOSE

TO PARTICIPATE AND IF THEY DO SO

WE GATHER INFORMATION FROM THEM

ABOUT THE GENETIC VARIANTS FOUND

AS PART OF THE UDN EVALUATION,

SIGNS AND SYMPTOMS, WE MAKE SURE

THIS GETS TRANSLATED INTO

LANGUAGE THAT WOULD BE FAMILIAR

BOTH TO CLINICIANS AND

RESEARCHERS AS WELL AS OTHER

PARTICIPANTS THEMSELVES OR OTHER

FAMILY MEMBERS WHO MIGHT LOOK

THROUGH THE WEB PAGES ONLINE.

WE ALSO PROVIDE INFORMATION

ABOUT MEDICATION OR TREATMENT

THEY ARE RECEIVING.

AND INFORMATION ON HOW YOU CAN

REACH OUT TO THE UDN IF ONE OF

THESE PARTICIPANTS LOOKS LIKE

SOMEONE YOU MIGHT KNOW.

TO DATE WE HAVE 17 PARTICIPANT

PAGES UP AND AVAILABLE ONLINE.

AND SOME OF THEM ASSOCIATED 13

GENES OF INTEREST PAGES WHICH

PROVIDE INFORMATION ABOUT GENES

IDENTIFIED IN UDN PARTICIPANTS.

FROM THESE PAGES  TWO

PUBLICATIONS HAVE COME OUT AND

NINE GENES ARE RESEARCH AS PART

OF THE UDN.

IF ANY SOUND LIKE SOMEONE YOU

KNOW AS AN INDIVIDUAL OR AS A

CLINICIAN ON ARE RESEARCHERS,

THE INFORMATION ON HOW TO

CONTACT UDN BY PHONE OR E-MAIL

IS AVAILABLE ON THESE PAGES AS

WELL.

AND ONE OF THE REASONS WHY THIS

IS SO IMPORTANT IS REALLY IT

HELPS US WITH BEING ABLE TO

IDENTIFY THOSE OTHER CASES THAT

ARE OUT THERE.

THESE ARE REALLY RARE CONDITIONS

OFTEN THAT ARE BEING DIAGNOSED

AS PART OF THE UNDIAGNOSED

DISEASES NETWORK.

AND ONE EXAMPLE OF THIS IS IN

THE CASE OF NACC1 WHERE THERE

WAS A SINGLE INDIVIDUAL THAT WAS

SEEN AS PART OF THE UDN, BY

PUTTING THEIR DATA INTO GENE

MATCHER WHICH IS PART OF THE

MATCHMAKER EXCHANGE, THE

RESEARCHERS WERE ABLE TO

IDENTIFY A SECOND CASE, BY THEN

LOOKING AT SOME OF THE

INDIVIDUAL INVESTIGATORS AT THE

BAYLOR COLLEGE OF MEDICINE SITE

WERE ABLE TO IDENTIFY A THIRD

INDIVIDUAL THROUGH THE CENTERS

FOR MENDELIAN GENOMICS RESEARCH

STUDY AND ANOTHER TWO

INDIVIDUALS THROUGH BAYLOR'S

CLINICAL EXOME SEQUENCING

PROJECTS.

AND THEN FINALLY LOOKING AT THE

PATIENT PAGES PROJECT WERE ABLE

TO IDENTIFY A SIXTH AND SEVENTH

INDIVIDUAL THROUGH CONTACT

COMING THROUGH THE WEB PAGE

CONNECTION OF PEOPLE SEEING THE

INFORMATION, BEING ABLE TO

GOOGLE IT AND REACH OUT TO THE

COORDINATING CENTER IN ORDER TO

BE ABLE TO MAKE THOSE CONTACTS.

SO WE FOUND THIS REALLY

IMPORTANT TO HAVE ALL AVENUES

AVAILABLE TO REACH OUT NOT JUST

TO THE RESEARCHERS BUT TO THE

CLINICAL LABS AS WELL AS THE

PARTICIPANTS OUT THERE

THEMSELVES.

AND SO WITH THAT I'D LIKE TO

CONCLUDE BY TELLING PEOPLE A

LITTLE BIT ABOUT OUR PLANS FOR

THE FUTURE.

THE UDN HAS BEEN RENEWED FOR A

SECOND PHASE OF COMMON FUND

SUPPORT WHICH WE'RE VERY EXCITED

TO HEAR ABOUT.

THIS WILL GIVE US ADDITIONAL

FIVE YEARS OF FUNDING THROUGH

2022 FOR THE UDN, IN ORDER FOR

US TO CONTINUE WORKING ON THOSE

THREE OBJECTIVES.

IN THE PHASE 2 WE ALSO HOPE TO

BE ABLE TO WORK ON DEVELOPING

WAYS TO MAKE THE UDN

SELF-SUSTAINING FOR THE FUTURE

AND WE INTEND TO HAVE NEW

FUNDING ANNOUNCEMENTS FOR THE

PHASE 2 SOMETIMES THIS SUMMER.

AND WITH THAT I WOULD LIKE TO

THANK ALL OF THE PARTICIPANTS

AND FAMILIES THAT HAVE BEEN PART

OF THE UDN STUDY, AS WELL AS THE

STAFF HERE AT THE NIH,

PARTICULARLY DR. BILL GALL,

CO-COORDINATOR FOR UNDIAGNOSED

DISEASE NETWORK AND MARY

PERICOMMON FUND LEAD AND POINT

OUT THAT THIS IS THE WEBSITE FOR

THE UNDIAGNOSED DISEASES

NETWORK, YOU CAN GO THERE TO

FIND MORE INFORMATION ABOUT HOW

TO APPLY OR ABOUT THE MANUAL OF

OPERATIONS OR PROTOCOLS IN

GENERAL.

AND ON THE TOP UNDER THE FOR

MORE INFORMATION YOU'LL FIND A

LINK TO OUR COMMON FUND WEBSITE

WHICH ALSO INCLUDES INFORMATION

ON MEETINGS THAT ARE COMING UP

THAT THE UDN IS GOING TO BE

PRESENTING ON SUCH AS KEYSTONE

MEETING ON RARE AND UNDIAGNOSED

DISEASES, BEGINNING OF MARCH, AS

WELL AS ACMG, A LITTLE BIT LATER

IN THE MONTH.

AND SO WITH THAT I WOULD LIKE TO

THANK YOU ALL AND TAKE ANY

QUESTIONS YOU MIGHT HAVE.

THANKS.

[APPLAUSE] 

>> UNFORTUNATELY WE'RE BEHIND ON

TIME ALREADY SO WE'RE GOING TO

UNFORTUNATELY HAVE TO GO TO THE

NEXT TALK.

THANK YOU, ANASTASIA.

THE LAST TALK BEFORE THE BREAK

IS FROM MARTHA RINKER, WHO IS

THE VICE PRESIDENT FOR PUBLIC

POLICY AT NORD, THE NATIONAL

ORGANIZATION OF RARE DISEASES.

I'LL LET MARTHA TELL YOU ABOUT

THIS, BUT IF YOU DON'T KNOW

NORD, PLEASE GET TO KNOW THEM.

THEY ARE THE GRANDDADDY

ORGANIZATION THAT STARTED IT

ALL.

AND WE LOOK TO THEM AND PARTNER

WITH THEM FOR LEADERSHIP IN ALL

KINDS OF THINGS.

SO MARTHA?

[APPLAUSE]

>> WELL, I'M HAPPY TO BE HERE

AGAIN THIS YEAR.

AM I ON HERE?

IT WAS MY FIRST -- I APPEARED

HERE LAST YEAR JOINING NORD JUST

A FEW MONTHS, IT WAS A GREAT

EXPERIENCE TO BE HERE LAST YEAR

AND I'M REALLY HAPPY THAT YOU

LET US JOIN YOU AGAIN.

I'M GOING TO -- BECAUSE I'M THE

LAST SPEAKER BETWEEN YOU AND THE

BREAK, AND I SHOULD KNOW BETTER

FROM LAST YEAR, I'M JUST GOING

TO SKIP THROUGH THESE WONDERFUL

THINGS THAT WE HAVE ABOUT OUR

GUIDING PRINCIPLES.

AM I GOING THE WRONG WAY?

NOPE.

COME ON.

WE ALWAYS DO THESE THINGS, DON'T

WE?

THIS IS LIKE THE FBI WARNING IN

FRONT OF A DVD.

YOU KNOW IT'S THERE AND YOU

IGNORE IT.

[LAUGHTER]

YOU KNOW, THE (INDISCERNIBLE)

LANGUAGE.

NORD IS A FEDERATION OF OVER 250

RARE DISEASE ORGANIZATIONS.

SO WE'RE PRETTY UNIQUE IN THAT

SENSE.

AND THESE ARE SOME OF THE THINGS

THAT WE PROVIDE.

AND I'M GOING TO FOCUS TODAY

THOUGH ON ADVOCACY BECAUSE

THAT'S WHAT I DO HERE IN

WASHINGTON, WITH THE POLICY TEAM

AT NORD.

AND SO IT'S SORT OF A U-TURN

FROM WHAT WE'VE BEEN TALKING

ABOUT THIS MORNING BUT I WANT TO

TALK ABOUT SOME THINGS WE'VE GOT

GOING HERE.

WE'RE NOW LAUNCHED A NEW

PLATFORM FOR ALL FAMILIES,

INDIVIDUALS WHO ARE INTERESTED

IN THIS, TO GET INVOLVED IN

STATE ADVOCACY.

AND ON THAT STATE ADVOCACY

NETWORK, WE HAVE A STATE ACTION

CENTER, WE HAVE A STATE REPORT

CARD, AND WE HAVE TOOLS,

EDUCATIONAL TOOLS, TO HELP

INDIVIDUALS AND ORGANIZATIONS

ACTUALLY LEARN HOW TO DO

ADVOCACY.

THE STATE ADVOCACY CENTER HAS --

BOY, I'M NOT EVEN DOING THIS.

THIS IS GOING OFF BY ITSELF

HERE.

[LAUGHTER]

SO I'M NOT SURE -- REALLY, I'M

SERIOUS.

I'M NOT EVEN TOUCHING THE THING.

[LAUGHTER]

OKAY.

WELL, GO TO THE SITE.

YOU'LL FIND THESE WONDERFUL

THINGS.

YOU'LL FIND INFORMATION ABOUT

ANY STATE OR THE DISTRICT OF

COLUMBIA.

WE HAVE THE STATE REPORT CARD

WHICH TELLS YOU WHAT'S GOING ON

IN YOUR STATES AND ALL THOSE

YOU WILL FIND 52 OF THESE ICONS,

IF YOU GO TO THE STATE ACTION

CENTER, AND YOU CAN PRESS ON

WHICH EVER STATE OR THE DISTRICT

OF COLUMBIA IF YOU'RE

INTERESTED, AND IT WILL LET YOU

KNOW WHAT'S GOING ON IN THOSE

STATES, AND WHAT'S GOING ON IN

THE LEGISLATURES AS WELL AS

LOCAL ACTIVITIES, WORKING IN

THOSE LOCAL STATES FOR ADVOCACY

FOR STATE ISSUES FOR RARE

PATIENTS AND THEIR FAMILIES.

OTHER THINGS ON THE RARE ACTION

NETWORK AS I SAID, THE STATE

REPORT CARD WHICH WE WERE

WORKING ON, WHICH WE SHOWED YOU

A LITTLE BIT ABOUT, AND IF YOU

ARE INTERESTED IN WHAT'S GOING

ON IN YOUR STATE IN THOSE AREAS

PLEASE GO THERE.

AND THEN WE HAVE EDUCATIONAL

TOOLS WHICH IS MORE OF WHAT I

WANTED TO TALK ABOUT ANYWAY, WAS

YOU CAN GO TO THAT SITE AND

THERE ARE SHORT EDUCATIONAL

PROGRAMS THAT WILL HELP YOU

LEARN ABOUT THE LEGISLATIVE

PROCESS.

INSTRUCTIONS ON HOW TO MEET WITH

YOUR LEGISLATORS, HOW TO PREPARE

MATERIALS TO GO TO A LEGISLATIVE

VISIT, HOW TO TELL YOUR STORY TO

THOSE LEGISLATORS SO THEY KNOW

HOW IMPORTANT THE FUNDING IS FOR

THESE PROGRAMS OR WHAT TO TELL

YOUR STORY ABOUT, WHAT'S

HAPPENING IN YOUR LIFE, WITH

YOUR INSURANCE COVERAGE AND

THINGS.

AND ALSO HOW TO ENGAGE WITH THE

MEDIA.

ALWAYS AN IMPORTANT TO THING TO

GET YOUR STORY ACROSS.

THE NEXT THING I WAS GOING TO

TALK ABOUT, BECAUSE WE TALKED

LAST YEAR SO MUCH ABOUT 21ST

CENTURY SECURES, AND IN THE REAR

VIEW MIRROR WE GOT IT PASSED.

IT WAS THE HARD WORK OF

ADVOCATES LIKE YOU WHO HAVE

GOTTEN US THERE.

I ALSO WANT TO TALK ABOUT

TRICARE AND MEDICAL FOODS

COVERAGE, AND ZIKA FUNDING.

SO THE 21ST CENTURY SECURES

INITIATIVE PASSED, YAY, BIG

DEAL.

I MEAN, IT TOOK A LOT OF WORK.

YOU GUYS WERE WONDERFUL ABOUT

THIS.

[APPLAUSE]

WE GOT AN EXTENSION FOR THE RARE

PEDIATRIC DISEASE PRIORITY, WE

ALL KNOW ABOUT FUNDING FOR

RESEARCH, HOW IMPORTANT IT IS.

WE GOT SOME STREAMLINING FOR THE

FDA REVIEW ON GENETICALLY

TARGETED PROTEIN VARIANT

THERAPIES FOR RARE DISEASES.

WE HAVE THE CREATION -- THERE

WAS CREATION OF FUNDS FOR THE

PRECISION MEDICINE INITIATIVE,

THE BRAIN INITIATIVE, AND THE

CANCER MOONSHOT.

IF WE CAN JUST GET CONGRESS TO

WRITE THE CHECK FOR THOSE

THINGS, IT WOULD BE WONDERFUL.

AND WE'VE ALSO EXPANDED THE

PATIENT FOCUSED DRUG DEVELOPMENT

INITIATIVE AT THE FDA.

A LOT OF OTHER THINGS HAPPENED

IN 21ST CENTURY CURES.

WE CREATED -- THERE'S A NATIONAL

NEUROLOGIC SURVEILLANCE SYSTEM

CREATED, EXPANDING HUMANITARIAN

DEVICE PROGRAM, VERY IMPORTANT

TO RARE FAMILIES, AND REQUIRING

PHARMACEUTICAL COMPANIES TO

PUBLICLY POST EXPANDED ACCESS

POLICIES ON THEIR WEBSITES SO

THAT YOU CAN HAVE THAT

INFORMATION ON WHAT'S GOING ON

THERE.

I WANT TO TALK ABOUT MEDICAL

FOODS JUST A QUICKIE.

VERY IMPORTANT FOR OUR

COMMUNITY, THE NATIONAL DEFENSE

REAUTHORIZATION PUT A VERY

EXTENSIVE DEFINITION OF WHAT

MEDICAL FOODS WERE AND WHAT

WOULD BE COVERED BY TRICARE.

IT IS ONLY FOR MILITARY FAMILIES

AT THIS POINT, BUT IT IS THE

FIRST STEPPING STONE.

WE CAN USE THAT NEW LANGUAGE AND

TAKE IT TO OTHER PAYERS TO

EXPAND PAYMENT FOR MEDICAL FOODS

FOR OUR FAMILIES.

[APPLAUSE]

BIG DEAL.

IT WAS A BIG DEAL.

IT DOESN'T SOUND LIKE A LOT, BUT

IT WAS.

THE OTHER THING THAT HAPPENED

LAST YEAR WE THOUGHT WAS VERY

IMPORTANT WAS ZIKA FUNDING.

WE HAVE 1.$2 BILLION IN FEDERAL

FUNDING TO COMBAT THE ZIKA

VIRUS.

IT'S AN UNUSUAL SITUATION WHERE

WE CAN GET ON THE PREVENTION

SIDE OF RARE DISEASES, SO

HOPEFULLY THAT CHECK WILL ALSO

BE WRITTEN FAIRLY SOON.

THE LAST THING I WANT TO TALK

ABOUT WAS 2017, WHAT WE'RE

FACING, NEW CHALLENGES AND NEW

INITIATIVES.

LAST YEAR, THE PATIENTS WERE

VERY ACTIVE AT FDA FOR THE USER

FEE AGREEMENTS THAT ARE

NEGOTIATED EVERY FIVE YEARS,

THERE'S ONE FOR PHARMACEUTICALS,

THERE'S ONE FOR MEDICAL DEVICES

AND THERE'S ONE FOR GENETIC --

GENERIC DRUGS.

AND THOSE AGREEMENT LETTERS HAVE

BEEN DONE.

WE'RE HAPPY WITH WHAT'S BEEN

HAPPENING WITH THAT.

THERE'S A LOT OF

PATIENT-CENTERED FOCUS ON THAT,

MORE ACTIVITY FOR PATIENTS AT

FDA AND THE PRESCRIPTION DRUGS

AND MEDICAL DEVICE AREAS.

IT INCLUDES EXPANSION OF THE

RARE DISEASES PROGRAM BY

INTEGRATING RARE DISEASE

SPECIALISTS, INTO THE REVIEW

DIVISIONS AT FDA.

VERY IMPORTANT TO GET THE

PATIENT VOICE AND TO GET THOSE

RARE DISEASE EXPERTS IN THAT

PART OF THE PROCESS AT THE FDA.

AND PLACING RARE DISEASES

PROGRAM STAFF IN EACH OF THE

REVIEW DIVISIONS SO THERE'S A

VOICE FOR RARE AS SOMETHING A

PRODUCT GOES THROUGH THE FDA.

AND THERE'S THE CONTINUATION OF

PATIENT FOCUS DRUG DEVELOPMENT

AND A BUNCH OF OTHER THINGS LIKE

COMBINATION PRODUCT REVIEW.

I'LL BE HAPPY TO SHARE MY SLIDES

IF ANYBODY IS INTERESTED BUT

THAT HAS TO GO THROUGH

CONGRESSIONAL APPROVAL, THE

LEGISLATION IS IN THE PROCESS OF

BEING WRITTEN RIGHT NOW.

WE'RE VERY ACTIVE ON THE HILL

MAKING SURE IT GOES THROUGH AS A

CLEAN BILL, THAT THERE'S NO

MONKEYING AROUND WITH WHAT'S

IMPORTANT TO US, INCLUDING

ORPHAN DRUG ACT.

THE OTHER THING THAT I WANTED TO

TALK ABOUT WHICH IS SORT OF THE

DEAD MOOSE IN THE ROOM WHEN IT

COMES TO ADVOCACY IS THE ACA.

WE KNOW THAT THE AFFORDABLE CARE

ACT IS NOW UNDER FIRE.

IT'S ALWAYS BEEN SOMETHING THAT

POLITICIANS HAVE USED AS A

TALKING POINT, THEY ARE LIKE A

DOG, THEY HAVE CAUGHT THE CAR

AND NOW THEY DON'T KNOW WHAT TO

DO WITH IT.

WE KNOW THE ACA IS IMPERFECT.

IT NEEDS TO BE WORKED ON.

IT NEEDS TO BE TUNED UP, JUST AS

ANY MAJOR PIECE OF LEGISLATION.

BUT IMPERFECT AS IT IS, IT DID

REFORM SOME INSURANCE PRACTICES

THAT WERE PARTICULARLY

EGREGIOUS.

IT'S BEFORE THE ACA WE HAD

DISCRIMINATORY INSURANCE

PRACTICES.

WE HAD LIMITED MEDICAID

ELIGIBILITY.

AND WE HAD DEBILITATING COST

SHARING.

SO WHETHER IT'S REPEAL AND

REPLACE OR WHETHER IT'S REPAIR,

WE WANT YOU TO BE AWARE AND WORK

WITH US AS WE MAKE SURE THAT

ANYTHING THAT IS DONE FOR THE

ACA PROTECTS RARE DISEASE

PATIENTS AGAINST DISCRIMINATORY

INSURANCE AND MEDICAL

UNDERWRITING, THAT THERE BE

GUARANTEED ISSUE AND  AND
RENEWAL

PROHIBITION OF BENEFIT RENEWAL

AND COMMUNITY RATINGS TO HAVE

ACCESS TO CARE.

IT'S SORT OF A CALL TO ARMS TO

THE RARE COMMUNITY TO BE VERY

VIGILANT, TO BE INTERESTED, TO

READ ABOUT IT, TO MAKE SURE THAT

YOU TALK TO PEOPLE WHO ARE

MAKING THOSE DECISIONS THAT IT

IS A VERY IMPORTANT TO YOU, AND

YOUR FAMILIES AND TO YOUR

COMMUNITIES, THAT YOU CONTINUE

TO RECEIVE, BE ABLE TO GET

INSURANCE TO COVER WHAT YOU NEED

TO DEAL WITH WHAT WE HAVE TO

DEAL WITH EVERY DAY.

SO WITH THAT, I KNOW BREAK IS

WAITING, I JUST WANT TO SAY, THE

LAST THING I WANT TO SAY TO YOU

IS PLEASE GO FORTH AND ADVOCATE.

THANK YOU.

REALLY IS MY DISTINCT HONOR AND

PRIVILEGE TO INTRODUCE TONY

FAUCI AS OUR NEXT SPEAKER.

TONY PROBABLY MOST OF YOU KNOW

BECAUSE HE IS ON THE NEWS

NETWORKS PROBABLY MORE THAN BRAD

PITT THESE DAYS.

AND FOR VERY IMPORTANT PUBLIC

HEALTH REASONS.

TONY HAS BEEN THE DIRECTOR OF

THE NATIONAL INSTITUTE OF

ALLERGY AND INFECTIOUS DISEASES

FOR A NUMBER OF DECADES NOW.

AND IS REALLY THE COUNTRY'S

LEADER IN HELPING US TO

UNDERSTAND, ANTICIPATE, PREVENT

AND MANAGE WHEN THEY HAPPEN,

INFECTIOUS DISEASES, AND

DISORDERS OF IMMUNITY.

AND I ASKED TONY TO SPEAK TODAY

BECAUSE THE -- AS YOU'LL SEE

FROM HIS TALK, THOUGH INFECTIOUS

DISEASES MAY FIRST SEEM TO HAVE

LITTLE TO DO WITH RARE DISEASES,

THEY BOTH HAVE MANY THINGS IN

COMMON.

THEY ARE POORLY UNDERSTOOD.

THEY, IN THIS COUNTRY, ARE RARE,

SO IT'S HARD TO GET POLICYMAKERS

INTERESTED IN THEM, EVEN THOUGH

THEY CAN BOTH BE TICKING TIME

BOMBS.

THERE IS A LOT TO BE LEARNED

FROM MARSHALING NATIONAL AND

INTERNATIONAL RESOURCES TO

HANDLE EMERGING INFECTIOUS

DISEASES AND RARE DISEASES, AND

HAVING SEEN TONY'S TALK A NUMBER

OF TIMES NOW, I LEARN A LOT

EVERY TIME I HEAR IT, AND I KNOW

YOU WILL, AND TAKE SOME LESSONS

FOR HOW YOU MIGHT APPLY WHAT

HE'S DONE AND THEY'VE DONE SO

SUCCESSFULLY TO YOUR OWN WORK.

SO, TONY, PLEASE.

[APPLAUSE]

>> THANK YOU VERY MUCH, CHRIS.

IT'S A REAL PLEASURE TO BE HERE

WITH YOU THIS MORNING TO TALK

ABOUT THE SUBJECT OF EMERGING

INFECTIOUS DISEASES, AND I GAVE

IT THE TITLE FROM AIDS TO ZIKA

BECAUSE THAT'S WHAT WE'VE BEEN

WORKING ON AS CHRIS MENTIONED

FOR A NUMBER OF THE YEARS.

THIS IS A RARE DISEASE

SYMPOSIUM, AND I GUESS AS CHRIS

ALLUDED TO, ONE MIGHT WONDER WHY

YOU WOULD PUT INFECTIOUS

DISEASES WHICH ARE VERY, VERY

COMMON IN A RARE DISEASE

SYMPOSIUM, AND I HOPE IN THE

NEXT FEW MINUTES YOU'LL SEE WHY

WE DO THAT.

I WANT TO GO BACK A LOT OF

YEARS, BACK TO THE EARLY '80s

WHEN I FIRST BEGAN DOING THINGS

AS WE ALL HAVE TO DO IN THIS

CIRCUMSTANCE TO TESTIFY BEFORE

THE CONGRESS TO DEFEND THE

BUDGET OF THE INSTITUTE.

AND WHEN I DID THAT, THE FIRST

TIME WAS 1984, MY FIRST YEAR AS

DIRECTOR OF NIAID, AND AS SOME

OF YOU KNOW AT THAT TIME WITH

VERY EARLY YEARS OF HIV/AIDS

EPIDEMIC, AND THE THING I WANTED

TO IMPRESS UPON THE CONGRESS WAS

THAT THERE ARE THERE ARE

EMERGING REEMERGING INFECTIOUS

DISEASES.

I DREW A MAP OF THE WORLD WITHEN

A ARTIST HELPING ME, AND THE

POINT I MADE THERE ARE  THERE
ARE

EMERGING REEMERGING INFECTIOUS

DISEASES,ONE WAS HIV/AIDS.

I SHOW THAT EVERY YEAR, THE LAST

32 YEARS I'VE BEEN TESTIFYING

BEFORE CONGRESS, THEY DON'T GET

BORED BECAUSE I ADD ONE, TWOTWO

OCCASIONALLY THREE EMERGING

DISEASES TO THE MAP SO THE LAST

TIME I DID THIS, WHICH WAS MARCH

AND APRIL OF 2016, THIS IS WHAT

THE MAP LOOKED LIKE.

AND THESE ARE ALL DISEASES THAT

ARE EITHER BRAND NEW OR DISEASES

THAT HAVE REEMERGED THAT WERE

OLD DISEASES IN A NEW FORM.

SO WHY AM I SPEAKING TO THIS

SYMPOSIUM ABOUT THAT?

BECAUSE EACH OF THOSE DISEASES

ARE ESSENTIALLY STARTING OFF AS

RARE, UNTIL THEY ARE NO LONGER

RARE.

AND HIV, WHEN WE FIRST STUDIED

IT, HAD FIVE INDIVIDUALS

REPORTED FROM NEW YORK, FROM LOS

ANGELES, AND THEN A MONTH LATER

ANOTHER 26 INDIVIDUALS FROM

L.A., NEW YORK AND SAN

FRANCISCO.

SO THAT IS THE CONTEXT IN WHICH

A DISEASE APPEARS AND YOU REALLY

DON'T HAVE ANY IDEA WHERE IT'S

GOING SO LET ME VERY RAPIDLY RUN

THROUGH SOME OF THESE TO GIVE

YOU A LITTLE BIT OF A FEELING

FOR THE KINDS OF THINGS THAT I'M

TALKING ABOUT.

I BREAK UP EMERGING INFECTIOUS

DISEASES INTO TWO BROAD

CATEGORIES, EITHER BRAND NEW OR

OLD BUT REEMERGING.

SO LET'S TAKE A LOOK AT SOME

PROTOTYPICAL NEW EMERGING

DISEASE, AND BY DEFINITION MEANS

TO OUR KNOWLEDGE, WE AS A

CIVILIZATION HAVE NEVER

EXPERIENCED THAT DISEASE.

AS I MENTIONED JUST A MOMENT

AGO, REALLY THE MOTHER OF ALL

NEW EMERGING INFECTIOUS DISEASES

IS HIV/AIDS.

NOW, SOME NEW DISEASES ARE

CURIOSITIES, WHAT I CALL BLIPS

ON THE RADAR SCREEN, THAT COME

AND PERHAPS DISAPPEAR BY

THEMSELVES, BUT OTHERS HAVE

PROFOUND IMPACTS ON GLOBAL

HEALTH.

AND CERTAINLY HIV IS ONE OF

THOSE.

AS I MENTIONED, IT FIRST

APPEARED IN THE SUMMER OF 1981,

WITH THE FIRST CASES IN THE

UNITED STATES SOON TO REALIZE

THAT THIS IS A GLOBAL DISEASE

PREDOMINANTLY A DISEASE OF THE

DEVELOPING WORLD WITH NOW TODAY

67% OF ALL CASES IN SUB-SAHARAN

AFRICA.

SO IF YOU FAST FORWARD, FROM

THAT MMWR, 35, 36 YEARS AGO TO

WHERE WE ARE TODAY THERE HAVE

BEEN 80 MILLION CASES, CERTAINLY

NOT A RARE DISEASE ANYMORE, WITH

36 MILLION PEOPLE LIVING WITH

HIV,, 1.1 DEATHS, 2.1 MILLION

NEW INFECTIONS, INEL FALL AND

WINTER OF 1981 I WAS TALKING

HERE ABOUT THIS NEW STRANGE

DISEASE, INDEED IT WAS A RARE

DISEASE.

BUT THIS IS AN EXCELLENT EXAMPLE

OF WHEN YOU PUT A LOT OF

RESOURCES, SCIENTIFIC AND PUBLIC

HEALTH RESOURCES, INTO STUDYING

A DISEASE, THE KINDS OF THINGS

YOU LEARN, I COULD USE MY ENTIRE

TIME TALKING ABOUT EVERY SINGLE

ONE OF THOSE INDIVIDUAL BOXES,

BUT THE ONE I WANT TO BRING TO

YOUR ATTENTION IS THE ISSUE OF

THE SCIENTIFIC ADVANCES RELATED

TO TREATMENT.

SO RIGHT IN THIS BUILDING, WHEN

I AND MY COLLEAGUES CLIFF LANE

AND HENRY MASUR AND OTHERS WERE

SEEK PATIENTS WITH HIV WHICH WE

DIDN'T KNOW WAS HIV AT THE TIME,

THIS IS A PICTURE OF ME ON

ROUNDS 11 FLOORS UP WHEN WE WERE

SEEING THESE PATIENTS WHERE

THEIR LIFE EXPECTANCY WAS

APPROXIMATELY A YEAR TO 15

MONTHS.

BUT WITH THE SCIENTIFIC ADVANCES

AS A RESULT OF THE RESOURCES

THAT WERE INVESTED, WE NOW HAVE

MORE THAN 30 DRUGS WHICH WHEN

GIVEN TO A PERSON IN THE SAME

CLINIC AND ROOM IN THIS BUILDING

IF A 20-YEAR-OLD CAME IN AND HAD

NEWLY ACQUIRED HIV INFECTION, WE

STARTED THEM ON A SINGLE PILL,

CONTAINING THREE OF THESE DRUGS,

YOU COULD LOOK AT THAT PERSON

AND HONESTLY TELL THEM THAT

THEIR LIFE EXPECTANCY, IF YOU

GOT THEM WHEN THEY ARE LET'S SAY

IN MID-20s, WOULD BE AN

ADDITIONAL 50 YEARS.

WHICH IS ONE OF THE MOST

IMPRESSIVE ADVANCES IN

BIOMEDICAL RESEARCH LITERALLY IN

HISTORY AGAIN IN SOMETHING THAT

STARTED OFF AS A CURIOSITY.

NOW, LET'S QUICKLY GO OVER TO

THE OTHER SIDE OF THE COIN,

WHICH ARE DISEASES WHICH BY

DEFINITION MIGHT BE OLD

DISEASES, BUT THEY REAPPEAR AND

REEMERGE EITHER IN A DIFFERENT

GEOGRAPHIC LOCATION OR UNDER

DIFFERENT CIRCUMSTANCES.

ONE OF THOSE WE'VE EXPERIENCED

RIGHT HERE IN THE UNITED STATES,

WEST NILE VIRUS FOR FOR CENTURY

WAS IN AFRICA AND IN THE MIDDLE

EAST AND IN 1999 WHEN EITHER A

BIRD, A MOSQUITO, AND/OR A

PERSON GOT OFF A PLANE IN LONG

ISLAND, THEN WE HAD THE

BEGINNING OF THE WEST NILE

ENDONICITY WHICH WE STILL HAVE

WEST NILE CASE.

DENGUE WE'RE FAMILIAR AFRICAN

AND ASIA DISEASE INFILTRATED

WESTERN HEMISPHERE SEEN IN SOUTH

AMERICA AND THE CARIBBEAN, WITH

OCCASIONAL ABERRANT CASE IN THE

SOUTHEAST PART OF THE UNITED

STATES.

CHIKUNGUNYA WAS UNHEARD OF IN

THE WESTERN HEMISPHERE UNTIL

2013, WHEN CASES BEGAN TO

EXPLODE IN THE CARIBBEAN,

PARTICULARLY IN PUERTO RICO, AND

NOW IT'S ENDEMIC IN SOUTH

AMERICA AND ONE OF THE MOST

IMPORTANT MOSQUITO BORNE

DISEASES IN THE WESTERN

HEMISPHERE, WHEREAS JUST FOUR OR

FIVE YEARS AGO IT WAS UNHEARD OF

IN THIS HEMISPHERE.

WE ALL KNOW ABOUT EBOLA VIRUS

DISEASE, AS A REEMERGING DISEASE

FIRST DISCOVERED IN 1976, AND

NOW WHAT WE SEE WITH EBOLA IS A

PHENOMENON THAT REALLY

GALVANIZED AND CAUGHT THE

ATTENTION OF THE ENTIRE WORLD.

SOME OF YOU MAY REMEMBER A FEW

YEARS AGO FROM 2014 TO 2016 WHEN

THE PERFECT STORM OF CONDITIONS

IN WEST AFRICA LED TO THE MOST

IMPRESSIVE EXPLOSION OF THIS

DISEASE IN ITS RELATIVELY SHORT

HISTORY.

PRIOR TO THE WEST AFRICAN

OUTBREAK, THERE WERE ABOUT 24

OUTBREAKS WITH CASES ANYWHERE

FROM 2 OR 3 UP TO A HUNDRED.

IN WEST AFRICA, GIVEN THE

CONDITIONS ON THE GROUND, AND A

VARIETY OF OTHER CIRCUMSTANCES,

THERE WERE 28,000 CASES WITH

11,000 DEATHS.

NOW, THAT WAS A DISEASE THAT WAS

CONSIDERED BY PEOPLE AS OVER

THERE.

WELL, WHAT HAPPENED IS THAT NO

DISEASE THAT'S GLOBAL WILL

ULTIMATELY FOREVER STAY AWAY

FROM OUR OWN SHORES.

AND INDEED BY ACCIDENT AN

INDIVIDUAL WHO WAS INFECTED IN

MONROVIA CAME TO THE UNITED

STATES TO VISIT FRIENDS AND

RELATIVES IN TEXAS.

WAS SICK BEFORE THEY GOT ON THE

PLANE BUT NOT SYMPTOMATIC.

SO THEY WENT RIGHT THROUGH THE

SCREENING, LANDED IN TEXAS, WENT

TO AN EMERGENCY ROOM, WHICH WAS

ILL, THE DIAGNOSIS WAS MISSED,

CAME BACK IN EXTREMIS, TAKEN

CARE OF IN INTENSIVE CARE IN

TEXAS.

THE PATIENT DIED NOT

UNEXPECTEDLY WITH THE DISEASE OF

HIGH MORTALITY BUT IMPORTANTLY

THE PATIENT INFECTED TWO

INTENSIVE CARE NURSES WHO WERE

TAKING CARE OF THEM.

ONE, RIGHT HERE IN THIS

BUILDING, WE HAD THE OPPORTUNITY

OF TAKING CARE OF.

BUT IT WAS THE APPEARANCE OF

CASES AS FEW AS THEY WERE, AS

RARE AS THEY WERE, IN THE UNITED

STATES, THAT CAUSED AN

EXTRAORDINARY SPREAD OF

UNREASONABLE FEAR.

SO AGAIN THE RELATIONSHIP WITH

SOMETHING THAT IS RARE BUT THAT

HAS AN EXTRAORDINARY IMPACT ON

THE AWARENESS OF THE NATION AS

THIS DOMINATED THE NEWS.

NIH IN THIS BUILDING WAS

DESIGNATED AS ONE OF THE THREE

SPECIAL CLINICAL UNITS THAT WERE

DESIGNATED TO BE EBOLA TREATMENT

FACILITIES, ONE IN NEBRASKA, ONE

AT EMORY AND ONE HERE AT NIH.

THIS IS A PICTURE OF NINA PHAM,

THE NOW WELL-KNOWN NURSE WHO WAS

INFECTED IN DALLAS BY THE

PATIENT FROM MONROVIA, THEY

COULDN'T TAKE CARE OF HER THERE

BECAUSE THEY HAD ENOUGH ISSUES

OF THINKING THERE WAS GOING TO

BE AN OUTBREAK THERE AND BROUGHT

THEM HERE, AND RIGHT HERE IN OUR

SPECIAL CLINICAL STUDIES UNIT WE

TOOK CARE OF THE PATIENT.

THIS IS A PICTURE OF OUR

DISCHARGING HER RIGHT IN FRONT

OF THE CLINICL CENTER WHERE

YOU'RE SITTING RIGHT NOW.

BUT THERE WAS ANOTHER PATIENT

THAT WAS REALLY MUCH MORE

IMPRESSIVE WITH REGARD TO CARE.

IT'S AN INDIVIDUAL WHOSE

IDENTITY REMAINS SECRET BECAUSE

HE DOESN'T WANT ANYONE TO KNOW,

BUT IT WAS A HEALTH CARE WORKER

WHO WAS TAKING CARE OF PATIENTS

IN SIERRA LEONE WITH PAUL

FARMER'S GROUP IN PARTNERS IN

HEALTH.

HE GOT INFECTED, AND WAS

AIR-EVACKED HERE.

THIS IS A PICTURE OF THE CORNER

DOWNSTAIRS OF THE STAFF WAITING

FOR THE PATIENT TO COME OUT OF

THE AMBULANCE, TAKING THE

PATIENT FROM THE AMBULANCE TO

ELEVATORS TO OUR SPECIAL

CLINICAL STUDIES UNIT WHERE WE

HAVE A TRAINED GROUP OF

INDIVIDUALS, INFECTIOUS DISEASE

INDIVIDUALS, INTENSIVE CARE

SPECIALISTS BUT MOST IMPORTANTLY

HIGHLY QUALIFIED NURSES.

HERE'S AN EXAMPLE OF ONE OF OUR

GROUPS, THIS IS ME AND A

PHYSICIAN NAMED DAN CHERTOW, WHO

HAD EXPENSIVE EXPERIENCE IN

AFRICA.

WE WERE GETTING READY TO GO IN

AND HERE WE ARE SUITING UP,

GETTING READY TO GO IN.

THIS PATIENT WAS ONE OF THE MOST

ILL PATIENTS THAT I'VE EVER

TAKEN CARE OF IN MY LONG MEDICAL

CAREER, BUT BECAUSE OF THE

EXTRAORDINARY CARE GIVEN TO THIS

INDIVIDUAL WITH A VERY RARE

DISEASE, CERTAINLY FOR THE

UNITED STATES, THE PERSON

ULTIMATELY WALKED OUT OF THE

HOSPITAL HEALTHY AND WE'LL SEE

THE PATIENT SOON IN A FOLLOW-UP

VISIT AND HE'S DOING

EXTRAORDINARILY WELL.

AND THE ONE WE DEALT WITH MOST

RECENTLY AND WE'RE STILL DEALING

WITH, AND THAT IS ZIKA VIRUS.

NOW, ZIKA WAS UNKNOWN UNTIL

1947, WHEN IT WAS FIRST

DISCOVERED IN THE ZIKA FOREST OF

UGANDA, NO CASES UNTIL 1952 AND

THEN IN A STRIKING

EPIDEMIOLOGICAL WAY IT WORKED

ITS WAY ACROSS THE PACIFIC, WITH

THE FIRST RECOGNIZED OUTBREAK IN

MICRONESIA, IN YA P ISLANDS IN

2011, 2013 FRENCH POLYNESIA AND

PERFECT STORM IN BRAZIL IN 2015,

WHY DO I SAY PERFECT STORM?

BECAUSE IN BRAZIL, YOU HAD THE

RIGHT CONDITIONS, A LOT OF

PEOPLE, A LOT OF AEDES AEGYPTI

MOSQUITOES, AND A POPULATION

THAT HAD NEVER BEEN EXPOSED TO

ZIKA BEFORE, SO THEY WERE

IMMUNOLOGICALLY NAIVE, A

VULNERABLE POPULATION, WHAT

HAPPENED WAS AN EXPLOSION OF

CASES.

SINCE ZIKA FUNDAMENTALLY IS A

RELATIVELY MILD DISEASE NOT MUCH

ATTENTION WAS PAID UNTIL IT

BECAME CLEAR THAT WHEN PREGNANT

WOMEN GET INFECTED, PARTICULARLY

BUT NOT EXCLUSIVELY IN THE FIRST

TRIMISTER THERE'S DIRE

CONSEQUENCES WITH THE FETUS

PARTICULARLY APPEARANCE OF

MICROCEPHALY AS THE VIRUS

ATTACKS THE DEVELOPING BRAIN OF

THE FETUS, LEADING TO THE TRAGIC

CASES THAT WE'RE ALL SO FAMILIAR

WITH NOW BECAUSE IT GOT SO MUCH

MEDIA ATTENTION.

WE SOON BECAME CLEAR IT WAS NOT

ONLY MICROCEPHALY BUT A WIDE

ARRAY OF MANIFESTATIONS WHICH

HAVE NOW BEEN TERMED THE

CONGENITAL ZIKA SYNDROME,

ANALOGOUS TO CONGENITAL RUBELLA

SYNDROME FROM THE 1960s WHEN

INDIVIDUALS, PREGNANT WOMEN WHO

GOT INFECTED DURING PREGNANCY

WITH RUBELLA, HAD INDIVIDUAL

BABIES WHO HAD VERY CONSIDERABLE

DEGREE OF ABNORMALITIES

CONGENITALLY.

THESE ARE SOME OF THESE.

IT ISN'T JUST MICROCEPHALY AND

WE'RE LEARNING MORE AND MORE

ABOUT THAT AS WE STUDY THESE

INDIVIDUALS.

WHAT ABOUT THE RESPONSE?

IN REAL TIME, WHAT WE'RE DOING

NOW TODAY AS I'M SPEAKING IS

RAPIDLY DEVELOPING A VACCINE,

AND THIS IS A BUSY SLIDE.

I DON'T PARTICULARLY LIKE BUSY

SLIDES, BUT IT'S A LIST OF THE

VARIOUS VACCINE CANDIDATES THAT

WE ARE INVOLVED WITH HERE AT

NIH, IN WHICH WE'VE GONE INTO

PHASE 1 TRIAL JUST TOWARDS THE

FALL AND LATE FALL AND EARLY

WINTER OF THIS PAST YEAR, AND

RIGHT NOW WE'RE GETTING READY IN

THE FIRST CANDIDATE TO GO INTO A

PHASE 2 TRIAL IN SOUTH AMERICA.

NOW, THE REASON WE WERE ABLE TO

HIT THE GROUND RUNNING WITH THIS

DNA VACCINE BECAUSE WE HAD

ALREADY MADE VACCINES AGAINST

WEST NILE VIRUS A FEW YEARS AGO.

WE NEVER GOT IT TO BE A PRODUCT

THAT WAS MARKETABLE BECAUSE WE

COULDN'T GET A PHARMACEUTICAL

COMPANY TO PARTNER WITH US.

AS IT TURNS OUT, THAT'S NOT

GOING TO BE A PROBLEM WITH ZIKA

BECAUSE OF THE INTENSE INTEREST

IN ZIKA.

THIS DNA PLATFORM IS VERY

INTERESTING.

IT'S A SIMPLE PLASMID FOR WHICH

YOU CAN INTERCHANGE GENES.

WE FIRST DID IT WITH WEST NILE,

AND NOW THIS ONE WAS INSERTING

THE GENE FOR A PROTEIN THAT IS

EXPRESSED ON THE ZIKA VIRUS,

WHICH THEN INDUCES THE BODY TO

MAKE AN APPROPRIATE RESPONSE.

AS I MENTIONED, THE PHASE 1

TESTING BEGAN LAST SUMMER IN

THIS BUILDING, AND THEN

PROCEEDED TO A PHASE 2 TRIAL IN

ABOUT TWO WEEKS TO A MONTH AS WE

GET INTO THE EARLY AND

MID-MARCH.

AND THAT WILL BE ABOUT A

2400-PERSON PHASE 2 TRIAL AND

HOPEFULLY BY 2018 WE'LL KNOW A

LITTLE BIT ABOUT EFFICACY SO I

WANT TO STOP WITH THIS LAST

SLIDE AND JUST REITERATE WHAT I

SAID IN THE BEGINNING, THAT

EMERGING INFECTIOUS DISEASES ARE

A PERPETUAL CHANGE.

WE'VE ALWAYS HAD THEM.

WE HAVE THEM NOW AND WILL

CONTINUE TO HAVE THEM BUT THE

COMPLICATING ISSUE IS THAT IS

WHEN THEY ARE NEW DISEASES WE

PERCEIVE THEM EARLY ON AS RARE.

THEY CAN EITHER STAY RARE OR

THEY CAN EXPLODE INTO SOMETHING

LIKE WE'VE SEEN WITH HIV BUT FOR

SURE THE ONE THING THAT WE'RE

CERTAIN OF IS THAT WE WILL

ALWAYS SEE THEM.

THANK YOU VERY MUCH.

IT WAS NICE BEING WITH YOU.

[APPLAUSE] 

>> LET ME JUST SAY, ARE THERE

QUESTIONS FOR DR. FAUCI BEFORE

HE RUNS OFF TO HIS NEXT ... YES,

PLEASE IDENTIFY YOURSELF AND IF

THERE'S -- THERE'S A MICROPHONE

UP HERE.

WE HAVE ANOTHER ONE RIGHT --

>> ALOHA.

MY NAME IS SKY, WITH RARE

DISEASE HAWAII.

AND WHERE ZIKA IS NOW -- WE HAVE

MORE THAN TEN CASES, AND IT'S

SPREADING.

WHAT DO YOU SAY FOR THOSE THAT

ARE TRYING TO WORK ON IT IN

HAWAII?

>> WELL, WHAT YOU SAY IS WHAT WE

TELL EVERYONE.

THERE ARE TWO ASPECTS.

ONE, HOW DO YOU PROTECT

YOURSELF?

WHEN YOU DON'T HAVE A VACCINE,

MOSQUITO CONTROL IS CLEARLY THE

BEST WAY TO DO THAT.

RIGHT NOW, WE ARE HOPING THAT

WE'LL GET A VACCINE INTO AN

ADVANCED TRIAL AS I MENTIONED,

WE'LL  START AT THE END OF THE

MONTH, INTO MARCH.

MOSQUITO CONTROL UNTIL WE GET A

VACCINE, AND WHEN WE GET A

VACCINE THAT'S GOING TO BE THE

ONE THAT WILL DO THE SAME THING

WE DID WITH RUBELLA.

>> THANK YOU.

>> YOU'RE WELCOME.

>> HI, SEAN EKINS, A RARE

DISEASE COMPANY.

HOW WITH WE INFORM THOUSANDS OF

RARE DISEASE AROUND SUCCESS FOR

INFECTIOUS DISEASE LIKE HIV AND

PERHAPS HOPEFULLY ZIKA?

HOW CAN WE INFORM THOUSANDS --

>> YEAH, WELL, YOU KNOW, THAT'S

A REALLY GOOD POINT, BUT IT RUNS

INTO SOMETIMES THE ROAD BLOCK OF

RESOURCE ALLOCATION.

WE WERE ABLE TO HAVE AN

EXTRAORDINARY IMPACT ON HIV,

BECAUSE OF THE ATTENTION THAT

WAS PAID TO IT AND THE

RESOURCES.

ONE OF THE DILEMMAS THAT RARE

DISEASES HAVE IS BECAUSE THEY

ARE RARE, THAT ONE COULD ALWAYS

SAY RELATIVELY SPEAKING HOW MUCH

RESOURCES YOU COULD PUT ON IT.

I THINK IF YOU CAN ACTUALLY GET

ENOUGH RESOURCES TO HAVE AN

IMPACT ON DISEASE TO REALLY

TRANSFORM IT INTO SOMETHING THAT

WAS COMPLETELY UNKNOWN TO

SOMETHING YOU COULD DO ABOUT IT,

IT IS WELL WORTH THE MONEY.

WITHOUT A DOUBT.

AND THE KINDS OF RESOURCES THAT

WE PUT IN, FORGETTING INFECTIOUS

DISEASE NOW BUT RIGHT NOW IN THE

CLINICAL CENTER ON RARE DISEASE

IMPORTANT NOT ONLY FOR

INDIVIDUAL DISEASE BUT REALLY

OPENED UP THE PATHWAY TO

UNDERSTANDING A VARIETY OF OTHER

DISEASES.

SO IT'S TO KIND OF LINK AN

INDIVIDUAL RARE DISEASE TO THE

TOTALITY OF RARE DISEASES, AND I

THINK IF YOU HELP WITH ONE, YOU

COULD HELP WITH A LOT.

>> THANK YOU. 

>> THANK YOU, DR. FAUCI.

[APPLAUSE]

THAT WAS MAGESTERIAL, AS ALWAYS.

I JUST WANT TO MAKE A COUPLE

POINTS FROM TONY'S TALK.

FIRST OF ALL, THAT ONE WORD HE

WAS TALKING ABOUT, WHEN HIV WAS

IDENTIFIED, ZIKA WAS IDENTIFIED,

AND THEY WERE RARE, ALL THE

THINGS DONE, EPIDEMIOLOGY,

NATURAL HISTORY, THE SLIDE HE

SHOWED, THAT'S EXACTLY THE SAME

THING THAT HAS TO GO ON IN EACH

RARE DISEASE WITH THE DIFFERENCE

BEING HE HAD VIROLOGY IN THERE,

AND WE NEED TO PUT GENETICS IN

THERE INSTEAD BUT ALL THE REST

OF THEM ARE EXACTLY THE SAME.

THE OTHER THING THAT I HOPE YOU

GOT FROM TONY'S TALK WAS THAT

THE PLATFORM THAT WAS CREATED

FOR HIV HAS BEEN USED OVER AND

OVER AND OVER AGAIN, FOR ALL OF

THOSE DIFFERENT DISEASES ON HIS

GLOBAL MAP.

AND SO THERE IS NOW A GLOBAL

SYSTEM FOR HANDLING THESE

DISORDERS BECAUSE WE KNOW THERE

ARE MANY OF THEM AND THEY ARE

GOING TO KEEP COMING BACK.

SO THAT'S VERY SIMILAR OR

IDENTICAL TO THE RARE DISEASE

PROBLEM.

AND SO I THINK OUR CHALLENGE AS

A COMMUNITY IS TO BUILD THAT

SORT OF PLATFORM.

OKAY.

SO THE NEXT SPEAKER IS AN OLD

FRIEND, SHAWN BURGESS FROM

NATIONAL HUMAN GENOME RESEARCH

INSTITUTE.

ONE OF THE ISSUES WITH RARE

DISEASES, RARE GENETIC DISEASE

AS YOU'RE ALL AWARE IS THAT THEY

ARE RARE.

AND OF COURSE WHAT WE NEED TO

HAVE IS SYSTEMS IN WHICH WE CAN

STUDY THESE TO UNDERSTAND HOW

GENETIC DEFECT MIGHT LEAD TO

SYMPTOMS WHICH ARE EVIDENT IN A

PERSON WITH A RARE DISEASE, AND

SO SCIENTISTS OVER THE YEARS

HAVE DEVELOPED WAYS OF

DEVELOPING ANIMAL MODELS FOR

HUMAN DISEASES VERY SUCCESSFULLY

AND SHAWN HAS BEEN ONE OF THE

LEADERS IN DOING THIS IN AN

ANIMAL MODEL, YOU MAY BE LESS

FAMILIAR WITH, YOU'RE FAMILIAR

WITH MICE AND RATS.

HOWEVER UNLESS YOU WORK IN A

FISH STORE, YOU MAY NOT KNOW

ABOUT DONIOS, IF YOU GO TO A

FISH STORE THEY SELL THEM AS

DONIOS, THAT IS ACTUALLY THE

SPECIES NAME.

WE FOR SOME REASON DON'T CALL

THEM DONIOS.

WE CALL THEM ZEBRAFISH, WHICH

SHAWN IS GOING TO TELL YOU ABOUT

WAYS THAT HE IS USING AND THE

FIELD IS USING THIS NEW CRISPR

TECHNOLOGY YOU READ ABOUT IN THE

NEWSPAPER TO CREATE MODELS OF

RARE DISEASE IN FISH AND WHY

THEY ARE MORE RELEVANT THAN YOU

MIGHT THINK.

>> GOOD MORNING, EVERYONE.

YEAH, I'M A BIT OF A FISH OUT OF

WATER.

[LAUGHTER]

THAT'S A REALLY BAD JOKE, I

KNOW.

I'VE NEVER EVER STOOD BY A

PATIENT'S BEDSIDE.

IF I TRIED TO TREAT A PATIENT

I'D BE IN JAIL VERY QUICKLY.

BUT WHAT I'M HERE TO TALK ABOUT

TODAY IS HOW SORT OF FUNDAMENTAL

BASIC RESEARCH REALLY IS STILL

THE ESSENTIAL FOUNDATION FOR US

BEING ABLE TO UNDERSTAND HUMAN

HEALTH AND ACTUALLY DO SOMETHING

ABOUT SOMETHING LIKE A RARE

DISEASE.

SO I'M IN THE GENOME INSTITUTE,

AND IT IS A BIT SURPRISING, I

ADMIT FOR THE HUMAN GENOME

INSTITUTE TO HIRE A ZEBRAFISH

GENETICIST.

WE'VE RUN INTO A PROBLEM WITH

SEQUENCING, THE PRICE HAS BECOME

INCREDIBLY CHEAP TO SEQUENCE

EVEN WHOLE HUMAN GENOMES BUT WE

HAVE A LOT OF DATA THAT'S COMING

TOO FAST.

WE CAN'T PROCESS THE DATA AND

UNDERSTAND ALL THE DATA BECAUSE

ABOUT 75% OF THE GENOME IS STILL

DARK SPACE.

AND I'M VERY INTERESTED IN THAT

DARK SPACE.

WE DON'T UNDERSTAND IT.

BUT THE OTHER PART OF IT IS THE

WHOLE CORRELATION VERSUS

CAUSATION PROBLEM.

EVERY ONE IN HERE, INCLUDING

PATIENTS WITH RARE DISEASES,

HAVE A HANDFUL OF GENES THAT ARE

ALMOST CERTAINLY NOT FUNCTIONING

PROPERLY.

MOST OF US DON'T PAY MUCH OF A

PRICE FOR THAT.

WE GET ALONG JUST FINE.

BUT THERE ARE SOME THAT DO

MATTER MUCH MORE THAN OTHERS IN

TERMS OF THEIR FUNCTIONALITY,

AND SO THERE'S A PROBLEM.

MOST OF THESE CANDIDATE

DISEASES, YOU CAN'T PROVE YOU'VE

GOT THE RIGHT THING BY

SEQUENCING AND FINDING SOMETHING

WRONG WITH THE GENE.

YOU NEED GENETIC EVIDENCE TO

SAY, YEAH, WE'VE GOT THE RIGHT

THING.

THIS IS WHERE THE FISH COMES

INTO PLAY.

MOST OF YOU DO KNOW ABOUT THINGS

LIKE MOUSE AND THERE ARE OTHER

MODEL ORGANISMS LIKE YEAST AND

WORMS AND FLIES.

THEY ALL HAVE THEIR USES WHEN IT

COMES TO STUDYING HUMAN HEALTH,

SO I WILL ADMIT THIS DOESN'T

LOOK MUCH LIKE WE LOOK LIKE.

THEY HAVE A FEW DIFFERENCES THAT

MAKE THEM FISH AND NOT HUMAN

BEINGS.

BUT THEY DO HAVE A NUMBER OF

THINGS THAT WE CAN ASK QUESTIONS

ABOUT.

THEY HAVE A REAL  REAL DIGESTIVE

SYSTEM.

THEY HAVE A TWO-CHAMBERED HEART

THAT BEATS AND HAS BLOOD.

MANY OF THE MUSCLE DISEASE

MODELS MADE IN FISH WORK BETTER

THAN IN MICE, SO THAT'S -- THERE

ARE TIMES WHEN A FISH IS

ACTUALLY A BETTER MODEL THAN A

MAMMAL FOR HUMAN DISEASE.

IT'S GOT BONES AND CARTILAGE.

AGAIN IF YOU'VE EATEN ONE YOU'VE

PROBABLY RUN INTO ONE OF THOSE.

I STUDY PARTICULARLY THE EAR,

BUT IT HAS A FUNCTIONAL EYE

THAT'S, AGAIN, A BETTER MODEL

FOR HUMAN THAN A MOUSE EYE WHICH

THEY DON'T SEE VERY WELL IN

GENERAL.

SO BACK WHEN THE UNDIAGNOSED

DISEASE NETWORK WAS THE

UNDIAGNOSED DISEASE PROGRAM I

HAD SOME CONVERSATIONS WITH BILL

GALL AND NEIL BERKEL, THEY WERE

GETTING A LOT OF PATIENTS IN,

THEY WERE GETTING A LOT OF RAW

DATA FROM THEIR SEQUENCING AND

NEEDED WAYS TO FIGURE OUT FROM

THE HANDFUL OF GENES THAT COULD

BE THE CAUSE OF THESE DISEASES

HOW DO WE FIGURE OUT WHICH ONES

IS THE RIGHT ONE.

JUST SO HAPPENS THE NIH HAS ONE

OF THE LARGEST ZEBRAFISH

FACILITIES IN THE WORLD, IF NOT

THE LARGEST FACILITY IN THE

WORLD, IF YOU EVER GET A CHANCE

TO GET DOWN IN THERE AND SEE IT

IT'S REALLY QUITE REMARKABLE.

THERE ARE ABOUT 20,000 TANKS

DOWN THERE, WHICH WILL HOLD

ABOUT A QUARTER OF A MILLION

ZEBRAFISH.

SO -- AND I WAS VERY INTERESTED

IN INVOLVED IN HIGH THROUGHPUT

GENE KNOCKOUTS FOR A VARIETY OF

PURPOSES SO THE IDEA WAS COULD

THEY GIVE US A LIST OF CANDIDATE

DISEASE GENES, KNOCK THEM OUT IN

FISH, SEE WHAT HAPPENS AND THEN

MAYBE THOSE FISH COULD COME

AROUND AND INFORM SOMETHING

ABOUT THE PATIENT EITHER CONFIRM

THE GENE OR MAYBE EVEN HELP

UNDERSTAND THE PATHOLOGY OF THE

DISEASE.

I JUST WANT TO START WITH A

DEFINITION.

THERE'S TWO WORDS THAT ARE OUT

THERE.

OOPS.

TWO WORDS THAT ARE OUT THERE IN

THE POPULAR MEDIA, GENE THERAPY

AND GENE EDITING, AND THEY ARE

RELATED BUT THEY ARE SOMEWHAT

DIFFERENT CONCEPTS.

GENERALLY WITH GENE THERAPY THE

SCIENTISTS ARE TAKING A NORMAL

FUNCTIONING VERSION OF THE GENE

AND SOMEHOW GETTING IT INTO THE

CELL.

SOMETIMES IN THE GENOME,

SOMETIMES OUTSIDE THE GENOME,

BUT GETTING THAT NORMAL VERSION

IN THE CELL.

THEY DON'T REALLY CARE WHAT'S

GOING ON WITH THE ORIGINAL

DAMAGED GENE.

THEY JUST GET A GOOD COPY AND IF

IT FUNCTIONS IT CAN HELP RESCUE

THE PROBLEM THE PATIENT HAS.

GENE EDITING IS DIFFERENT, THIS

EMERGED IN THE LAST FOUR OR FIVE

YEARS IN PARTICULAR WITH

CRISPR/CAS 9 TECHNOLOGY, YOU CAN

TAKE AN ENZYME TO THE SITE IN

THE GENOME AND DO ONE OF TWO

THINGS.

YOU CAN BREAK THAT SITE AND

INACTIVATE THE GENE, THAT'S WHAT

WE'RE MOSTLY INTERESTED IN, OR

YOU CAN GO IN AND TRY TO FIX

THAT GENE AND I'LL GIVE YOU MORE

ABOUT THAT IN A MOMENT.

SO THE POPULAR MEDIA, UNLESS

YOU'VE BEEN SLEEPING UNDER A

ROCK, AT THIS POINT, YOU ARE

AWARE THERE'S THIS GENE EDITING

TECHNOLOGY CALLED CRISPR/CAS9.

WHAT'S GOT SCIENTISTS EXCITED

ABOUT THIS PARTICULAR TECHNOLOGY

IS HOW EASY IT IS TO CHANGE THE

TARGET.

SO IT'S A TWO-COMPONENT SYSTEM.

THERE'S ONE ONE ENZYME CAS9, THE

ONLY JOB IS TO CUT DNA IN HALF,

BOTH STRANDS OF THE DNA.

THE WAY IT TELLS WHERE TO GO IN

THE GENOME AND MAKE THAT CUT IS

ACTUALLY JUST A SINGLE RNA --

PIECE OF RNA, WITHIN THAT RNA

THERE'S 20 BASE PAIRS CALLED THE

GUIDE, THAT 20 BASE PAIRS

MATCHES 20 BASE PAIRS IN THE

GENOME AND CAUSES THAT

DOUBLE-STRANDED BREAK.

SCIENTISTS ARE GOOD AT MAKING

SPECIFIC RNA SEQUENCES SO

SWAPSWAPPING SPECIFICITY IS

SIMPLE AND WE CAN MAKE HUNDREDS

OR THOUSANDS OR TENS OF

THOUSANDS OF TARGETS AND

SPECIFICALLY KNOCK --

SPECIFICALLY ATTACK A PLACE IN

THE GENOME, FIND A SINGLE SPOT

IN THE GENOME ACROSS 3 BILLION

BASES IN THE CASE OF A HUMAN.

SO HOW DOES THAT WORK?

THERE'S REALLY THREE WAYS TO

RESOLVE IT.

I'M MOSTLY RELYING ON THIS

PARTICULAR PATHWAY, THAT'S THE

ONE I'M GOING TO TALK ABOUT THE

MOST.

BRING NUCLEUS TO THE SITEI MAKES

THE DOUBLE STRANDED BREAK, RELY

ON THE REPAIR MECHANISM MAKING A

MISTAKES, IF IT SHIFTS TO A ONE

OR TWO BASE DELETION FOR EXAMPLE

IT THROWS OUT THE READING FRAME

AND YOU CAN'T MAKE A PROTEIN,

THIS IS A KNOCKOUT.

CAN YOU PROVIDE REPAIR TEMPLATES

IN A VARIETY OF METHODS TO EDIT,

BUT WE'RE NOT GOING TO TALK

ABOUT THAT IN PARTICULAR.

SO WHAT DO YOU DO IN ZEBRA FISH

TO MAKE A DISEASE MODEL.

IT FERTILIZES EGGS EXTERNALLY,

THEY WILL GROW IN A DISH FOR THE

FIRST FIVE DAYS BEFORE YOU HAVE

TO FEED THEM.

THAT WHOLE TIME YOU CAN ACTUALLY

SEE THROUGH THEM.

THEY ARE OPTICALLY CLEAR.

WE CAN WATCH ALL THE

DEVELOPMENTAL PROCESSES HAPPEN

AND BY FIVE DAYS OLD THEY ARE

SWIMMING, THEY ARE EATING, THEY

ARE FULLY FUNCTIONAL ANIMALS SO

DEVELOPMENT IS FAST.

WE CAN WATCH IT HAPPEN.

AND DEVELOPMENTAL BIOLOGISTS

LOVE THAT.

SO WHEN THE EGGS ARE BORN, WE

CAN TAKE THAT GUIDE RNA AND CAS9

ENZYME AND ATTACK, THERE'S A

MIXTURE OF MUTANTS, YOU CAN

OUTCROSS THAT WITH A NORMAL FISH

AND GET A POOL OF SIBLINGS, SOME

OF WHICH WILL BE CARRYING THE

MUTATION YOU CARE ABOUT AND WE

HAVE WAYS OF IDENTIFYING THOSE

FISH VERY QUICKLY.

AND THEN WE TAKE TWO SIBLINGS

THAT CARRY THE SAME MUTATION AND

WE BREED THEM TOGETHER, AND SO

MENDEL WORKED OUT THE RULES FOR

THIS A LONG TIME AGO, IF YOU

TAKE TWO CARRIERS, EACH WITH ONE

BAD COPY AND ONE GOOD COPY,

THREE OUT OF FOUR OF THOSE FISH

WILL PROBABLY BE OKAY BECAUSE

THEY'VE GOT AT LEAST ONE GOOD

COPY, BUT ONE IN FOUR OF THOSE

FISH IS GOING TO HAVE BOTH

COPIES KNOCKED OUT, THAT'S ONE

HALFTIMES ONE HALF, IT'S A

SIMPLE RULE.

AND THEN WE LOOK FOR THOSE SICK

FISH.

AND IT'S A SIMPLE PROCESS.

IT TAKES 2 1/2 MONTHS TO GET

FROM HERE TO HERE.

AND THEN FIVE DAYS TO FIGURE OUT

WHICH OF THOSE FISH ARE GOING TO

BE SICK, UNLESS IT'S A

PROGRESSIVE DISEASE AND THEN WE

CAN RAISED FISH AND ASK WHEN

THEY ARE GROWN UP.

SO HOW WOULD YOU -- I'LL GIVE

ONE EXAMPLE HOW WE'VE USED THIS

IN IN COLLABORATION WITH DAN

CASTER'S GROUP IN THE GENOME

INSTITUTE, THEY IDENTIFIED FIVE

OR SIX KIDS ACROSS THE UNITED

STATES WITH AN UNUSUAL AND

DEBILITATING SPECTRUM OF

DISEASES, PERSISTENT RASHES,

VERY EARLY, THEY HAD PROBLEMS

WITH CIRCULATION TO THE POINT

WHERE YOU WOULD END UP WITH

GANGRENOUS AREAS AND BAD

CIRCULATORY AREAS AND THE MOST

DAMAGING PROBLEM WAS THAT THESE

KIDS WOULD GET STROKES, VERY

EARLY IN AGE, VERY YOUNG.

AND IT WAS -- THESE KIDS WERE

VERY SICK FROM A VERY EARLY AGE.

THEY WENT THROUGH THE HUMAN

GENETICS, DID IT RIGHT AND CAME

UP WITH THIS GENE CALLED DADA2,

CECR1 ALSO KNOWN AS.

IT'S AN ENZYME WHERE THERE'S TWO

COPIES, THIS ONE COPY SEEMED TO

BE CAUSING THIS DISEASE.

GENETICS WAS GOOD BUT THEY

WANTED A MODEL TO PROVE THAT

THEY GOT THE RIGHT THING SO THEY

CAME TO US.

SO THIS IS A PICTURE OF TWO DAY

OLD ZEBRAFISH EMBRYO'S HEAD, A

TRANSGENE WE'VE OBTAINED WHERE

THE GREEN MARKS ALL THE BLOOD

VESSELS, AND THE RED ACTUALLY

MARKS THE BLOOD, JUST -- GOT IT.

RED MARKS THE BLOOD.

YOU CAN SEE UNDER NORMAL

CIRCUMSTANCES THE BLOOD WHERE IT

SHOULD BE IN THE BLOOD VESSELS.

WHEN YOU KNOCKED OUT THE CECR1

GENE IN ZEBRAFISH WE ACTUALLY

GET STROKES AT 48 HOURS, THE

BLOOD COMES OUT OF THE BLOOD

VESSELS, FILLS THE BRAIN WITH

BLOOD AND THAT'S NOT SUPPOSED TO

HAPPEN, RIGHT?

SO HERE WE'VE ACTUALLY CONFIRMED

WITH THE VERY SPECIFIC KIND OF

PHENOTYPE THAT WE'VE GOT THE

RIGHT GENE, OR THEY'VE GOT THE

RIGHT GENE.

AND WHAT WAS INTERESTING IS AT

THE TIME OF BIRTH YOU CAN ALSO

INJECT A COPY OF THE CORRECT

GENE AND WE TOOK THE HUMAN GENE

AND SO THIS BAR REPRESENTS THE

NUMBER OF STROKES WE FOUND IN

MUTANT FISH, AND IF YOU INJECT

THE HUMAN GENE YOU CAN ACTUALLY

PREVENT THOSE STROKES FROM

HAPPENING.

SO THIS IS THE GOLD STANDARD FOR

GENETICISTS THAT WE'VE GOT THE

RIGHT THING, CAN YOU RESCUE BY

PUTTING THE GENE BACK, RIGHT?

WE CAN RESCUE BY PUTTING THE

GENE BACK.

INTERESTINGLY WE TOOK THE MUTANT

FORMS THEY IDENTIFY IN THE KIDS,

INJECT THOSE BACK AND THEY DON'T

RESCUE.

HERE IS ADDITIONAL PROOF THE

LESIONS WE WERE SEEING IN THE

GENOME WERE ACTUALLY

INACTIVATING THOSE GENES AND

WE'VE DEFINITELY GOT THE RIGHT

THING.

SO WHAT WE LIKE TO DO AS BASIC

SCIENTISTS IS NOT JUST CONFIRM

BUT ADVANCE OUR UNDERSTANDING.

HERE'S ANOTHER TRANSGENIC FISH,

AND THESE LITTLE WHITE SPOTS

HERE ARE THE IMMUNE SYSTEM OF

THIS FISH AT 3 DAYS OLD.

AND WE ACTUALLY SAW THAT IN

THESE PARTICULAR KNOCKOUTS, THAT

IMMUNE SYSTEM WAS ESSENTIALLY

WIPED OUT.

THIS HADN'T BEEN A PHENOTYPE

THEY WERE LOOKING AT IN THE

PATIENTS, THEY WENT BACK, THEY

CHECKED, IS THERE DEVELOPMENTAL

PROBLEMS IN THE IMMUNE SYSTEM IN

THE PATIENTS.

YES, THERE WERE.

THIS WAS LIKE THE GREAT STORY WE

GO HOO-HA, CHEER AND GET EXACTLY

WHAT I HOPED OR PROPOSED WE

COULD DO IN THE PAST, IN THE

BEGINNING, WE WENT FROM PATIENT

CANDIDATE, KNOCKED OUT THE FISH

AND ACTUALLY LEARNED SOMETHING

IN THE FISH THAT WE COULD BRING

BACK TO THE PATIENT AND

UNDERSTAND IT BETTER.

JUST TO SUMMARIZE WHAT I TOLD

YOU, SO FISH ACTUALLY CAN BE

MODELS OF RARE GENETIC DISEASES.

ONE THING I DIDN'T MENTION WAS

KNOCKOUT PROCESS, WE CAN DO IT A

LOT.

WE CAN DO DOZENS OR EVEN

HUNDREDS IN A MONTH.

SO IT CAN ACTUALLY BE USED TO DO

EVEN IF YOU HAVE A LOT OF

CANDIDATE GENES, WE CAN FIND THE

RIGHT ONE AND WE CAN USE IT TO

MODEL THESE RARE GENETIC

DISEASES.

CRISPR/CAS9 IS REALLY AMAZING

AND IT'S DRIVEN THROUGHPUT TO

THE POINT WE CAN DO THIS FOR AS

MANY CANDIDATES AS THE

SCIENTISTS CAN BRING TO US.

WE CAN REALLY DO IT ON SCALES

THAT WE NEED.

AND ONCE YOU HAVE THIS DISEASE

MODEL YOU CAN BOTH VALIDATE THAT

CANDIDATE GENE, YOU CAN GET NEW

INSIGHTS INTO THE DISEASE

PATHOLOGY IF YOU'RE FORTUNATE,

AND THESE FISH ALSO PROVIDE TEST

SUBJECTS SO IF YOU HAVE -- WANT

TO SCREEN FOR DRUGS, YOU HAVE A

DRUG YOU THINK MIGHT WORK, IT'S

EASIER TO GET AN EXPERIMENT

APPROVED IN A FISH THAN IT IS A

HUMAN AND I THINK THAT'S

PROBABLY A GOOD THING.

BUT THIS IS A REAL IMPORTANT

OPPORTUNITY FOR US.

FINALLY, THE LONE SCIENTIST

WORKING IN ISOLATION AND MAKING

A DISCOVERY IS PROBABLY A DEAD

MODEL, THERE ARE ALWAYS A LOT OF

PEOPLE INVOLVED IN EVERY WORK.

AND THESE ARE JUST THE PEOPLE

THAT I WORK WITH ROUTINELY.

WITH THAT, MAYBE QUESTIONS?

NO QUESTIONS.

SORRY.

[APPLAUSE] 

>> REALLY SORRY WE DON'T HAVE

TIME FOR QUESTIONS.

THERE'S SO MANY INTERESTING

STORIES THAT WE WANT TO HAVE YOU

HAVE, BUT I'M SURE SHAWN WOULD

BE GLAD TO TALK TO YOU.

I DO WANT TO JUST REITERATE A

POINT THAT SHAKEN MADE WHICH IS

REALLY IMPORTANT THAT AS WE'VE

GOTTEN MUCH BETTER AT

IDENTIFYING HUMAN DISEASE GENES,

A LOT OF YOU KNOW, THAT'S THE

FIRST STEP.

IT'S NOT THE END, TO IDENTIFYING

HOW THAT GENE LEADS TO THE HUMAN

DISORDER, OR DEVELOPING A

TREATMENT.

SO THE KINDS OF THINGS THAT

SHAWN AND HIS GROUP ARE DOING

ARE ABSOLUTELY CRITICAL IN THIS

PATHWAY.

THE NEXT STORY YOU'RE GOING TO

HEAR IS ANOTHER REMARKABLE ONE,

IT'S A REMARKABLE STORY FOR A

COUPLE REASONS.

FIRST, IT'S A GREAT EXAMPLE OF

WHAT I'VE BEEN QUOTED IN THE

PRESS AS SAYING WITH PARENTS OF

CHILDREN WITH RARE DISEASE ARE

FORTUNES OF NATURE.

THEY ARE.

THE MOM IN THIS CASE, LORI

SAMES, IS ONE OF THOSE PEOPLE.

I HAD THE PRIVILEGE OF MEETING

LORI SHORTLY AFTER HER DAUGHTER

HANNAH WAS DIAGNOSED, AND I KNOW

DIANA DID AS WELL, AND WE HAVE

AN ONGOING AT NCATS, AN ONGOING

PROJECT WITH SMALL MOLECULES

DRUG DEVELOPMENT.

WHAT DIANA IS GOING TO TELL YOU

IS AN EVEN BETTER STORY OF

DEVELOPMENT OF GENE THERAPY FOR

A DISORDER KNOWN AS GIANT AXONAL

NEUROPATHY.

SO DIANA, PLEASE.

[APPLAUSE] 

>> OKAY.

SO THANK YOU SO MUCH FOR THE

OPPORTUNITY TO SPEAK HERE AT

RARE DISEASE DAY.

AGAIN, AS HAS BEEN STATED TODAY,

ANY GIVEN DISEASE IN THE RARE

DISEASE NETWORK MAY SEEM

UNCOMMON, FAMILIES MAY FEEL LIKE

THEY ARE IN A SEA, SOMEWHAT

ALONE.

AND YET WHEN THEY COME TOGETHER

THE THINGS THAT CAN BE

ACCOMPLISHED AS A COMMUNITY ARE

QUITE REMARKABLE.

I'M GOING TO TELL THAT STORY

THROUGH THIS ONE DISEASE THAT

OUR TEAM HAS HAD THE PRIVILEGE

TO WORK ON CALLED GIANT AXONAL

NEUROPATHY, GAN, THIS IS A PHASE

1 TRIAL AT THE NIH THAT'S FIRST

IN HUMAN IN CERTAIN REGARDS

WE'LL DISCUSS UNDER LEADERSHIP

OF PRINCIPAL INVESTIGATOR, DR.

CARSON.

I'VE RECEIVED A TRAIN GRANT FOR

THREE YEARS THAT ENDED IN 2016

AND AWARD THROUGH CHILD

NEUROLOGY SOCIETY.

THE CARDINAL QUESTION HERE FOR

ME TODAY, WHAT DOES IT TAKE TO

BRING AN ULTRA RARE NEUROGENIC

DISEASE OF CHILDHOOD FROM NO

TREATMENT OPTION TO BE

FIRST-IN-HUMAN GENE TRANSFER

TRIAL SPECIFICALLY INTRATHECAL

APPROACH.

WE'LL TALK ABOUT STORIES WE

LEARNED AND CONTINUE TO LEARN

ALONG THE WAY.

WE'LL DESCRIBE GAN.

MANY PEOPLE HAVE NOT HEARD OF

THIS DISEASE.

WE'LL TALK ABOUT HOW IT

PROGRESSES IN THESE PATIENTS.

WE'LL TALK ABOUT ALSO UTILITY OF

THE NATURAL HISTORY STUDY IN

CLINICAL TRIAL PREPARATION FOR

THESE RARE DISORDERS, AS WELL AS

FEASIBILITY OF ADENOASSOCIATED

VIRUS AAV AND THEN END BY

TALKING ABOUT SOME VITAL ROLES

OF VARIOUS PLAYERS IN DRUG

DEVELOPMENT FOR RARE DISEASE

USING OUR GAN TRIAL AS AN

EXAMPLE.

GAN, IS A CHILDHOOD ONSET

AUTOSIMILAR NEURODEGENERATIVE

DISORDER, EXTREMELY RARE, WITH

ONLY 60 KNOWN CASES WORLDWIDE

THUS FAR.

AND THE DISEASE IS CHARACTERIZED

BY ONSET IN CHILDHOOD OF

PROGRESSIVE SENSORIMOTOR

NEUROPATHY, AS WELL AS WHAT WE

CALL KINKY HAIR, CURLY HAIR

PHENOTYPE.

YOU SEE THE LARGE OR GIANT AXONS

WHE YOU LOOK AT THE NERVE UNDER

THE MICROSCOPE, KINKY OR CURLY

HAIR, PRESENT EVEN FROM VERY

EARLY IN LIFE.

AND OFTEN THE FIRST SYMPTOS ARE

ABNORMALITIES IN WALKING OR IN

THE FOOT POSITION THAT FAMILIES

WILL NOTE.

THE DISEASE IS ALSO MARKED BY

SYMPTOMS INCLUDING FOR EXAMPLE

PROGRESSIVE SCOLIOSIS AND

CONTRACTURES OF THE EXTREMITIES.

AND SO THIS SLIDE HERE IS AN

EXAMPLE OF THE TIME LINE IN THE

GAN STUDY DEVELOPMENT.

SO THIS STORY BEGINS IN MARCH

2008 WHEN A YOUNG GIRL NAMED

HANNAH, 4 YEARS OLD AT THE TIME.

WAS DIAGNOSED WITH THIS DISEASE

CALLED GAN.

AND HER FAMILY, HER PARENTS LORI

AND MATT SAMES LIKE FAMILIES

WITH GAN BEFORE THEM HEARD ABOUT

THIS DIAGNOSIS, A DISEASE THAT

WOULD LEAD TO ULTIMATELY THE

LOSS OF THEIR CHILD'S ABILITY TO

WALK INDEPENDENTLY AND

POTENTIALLY TO THE LOSS OF LIFE

USUALLY DUE TO RESPIRATORY

COMPLICATIONS IN THE TEENAGE

YEARS TO EARLY ADULTHOOD.

œMORE ABOUT IT.D TO DO SOMETHING

AND SO THAT YEAR THEY DEVELOPED

WHAT'S KNOWN AS HANNAH'S HOPE

FUND, AA VERY ACTIVE NON-PROFIT

FOUNDATION IN THE GAN COMMUNITY

ANDING OR NIGHTED THE FIRST

SCIENTIFIC GAN MEETING WHICH LED

TO THEM SEEKING OUT AND THE

FRUITFUL COLLABORATION WITH

SCIENTISTS FROM THE UNC GENE

THERAPY CENTER DR. GRAY AND

SUMSKI THAT LAUNCHED SEVERAL

YEARS OF VERY VALUABLE

PRE-CLINICAL STUDIES, ALL THE

WAY OUT TO THE FUNDING EVEN OF

THE FIRST CLINICAL GRADE VECTOR

BATCH USED IN THE FIRST TWO

PATIENTS IN THE TRIAL.

ALL THROUGH FUNDING AND EFFORTS

SPARKED BY A MOTIVATED FAMILY

THAT BROUGHT TOGETHER THE GAN

COMMUNE AND OTHER FAMILIES.

THERE WERE IN VITRO

PROOF-OF-CONCEPT STUDIES,

DEVELOPING A MOUSE MODEL FOR

SAFETY AND EFFICACY STUDIES

FOLLOWED BY NON-HUMAN PRIMATE

STUDIES TO LOOK AT DOSING AND

SAFETY AND FINALLY THEN THE

COLLABORATION THAT THEN BROUGHT

IN NIH TEAM.

AND SO OUR TEAM AT THE NIH

BECAME INVOLVED AND WAS

APPROACHED, BUT AGAIN AS HAS

BEEN DISCUSSED TODAY WITH

FEASIBILITY FOR EARLY STAGE

CLINICAL TRIALS AT THE CENTER,

WE HAVE A TEAM OF RESEARCHERS

AND NETWORK FOR VARIOUS

COLLABORATORS WITH EXPERTISE IN

ASSESSING AND CARING FOR THESE

PATIENTS.

AND SO AS WE WERE WORKING ON THE

CLINICAL TRIAL DEVELOPMENT

INCLUDING THE PROTOCOL WRITING

AND VARIOUS REGULATORY PHASES WE

ALSO HAD AN ONGOING NATURAL

HISTORY STUDY THAT HAS PROVED TO

BE EXTREMELY VALUABLE PROVIDING

OUTCOME MEASURES, LEAD-IN DATA,

SO THAT FOR TRIAL -- PATIENTS

THAT EVENTUALLY ENTER THE TRIAL,

WE HAVE SOME IDEA OF THE DECLINE

IN THEIR MOTOR FUNCTION LEADING

INTO THE TRIAL.

AND ALSO HELPING US TO

UNDERSTAND THE TRIAL DESIGN AND

STRATIFICATION OF PATIENTS.

IN TERMS OF FURTHER TIME LINES,

IN 2015 THEN THE FIRST PATIENT

IN OUR TRIAL WAS INJECTED, BUT

ALSO IN IN THEN A SMALLER

THERAPEUTICS COMPANY BAMBOO

THERAPEUTICS GAINED INTEREST IN

THE PROGRAM, VECTOR DEVELOPMENT

AND SUBSEQUENTLY BAMBOO

THERAPEUTICS IS A SUBSIDIARY OF

PFIZER.

I I WANT TO TO HIGH ALONG THE

WAY THAT WHAT STARTED WITH

MOTIVATED PARENTS AND MOTIVATED

FAMILIES AND NETWORK OF FAMILIES

WITH GAN SPARKED THE INTEREST OF

SCIENTISTS, CLINICIANS, AND THEN

EVEN INDUSTRY TO REALLY CONTINUE

TO PUSH THIS PROGRAM FORWARD,

AND SO PEOPLE ARE LISTENING,

PEOPLE ARE AVAILABLE AND READY,

AND THIS CAN WORK.

SO FOR ALL THE FAMILIES,

ESPECIALLY, JUST TO SAY THAT

THESE EFFORTS RIGHT HERE ARE NOT

LOST EFFORTS, AND THEY REALLY

ARE QUITE VALUABLE.

AND SO IN TERMS OF OUR NATURAL

HISTORY STUDY, WE'VE SEEN 27 GAN

PATIENTS IN THREE YEARS' TIME,

RANGING FROM 4 TO 21 YEARS OF

AGE AND WE'VE BEEN TRYING TO

IDENTIFY VARIOUS CLINICAL TRIAL

END POINTS RANGING FROM MOTOR

AND FUNCTIONAL SCALES TO

ELECTROPHYSIOLOGIC MARKERS AND

ANATOMICAL MARKERS, IDENTIFIED

VARIOUS OUTCOME MEASURES BUT

GIVEN US UNIQUE OPPORTUNITIES TO

THINK ABOUT NOVEL EXPLORATORY

BIOMARKERS, TAKING ADVANTAGE OF

SOME OF THE VERY RARE FEATURES

AND UNIQUE FEATURES IN GAN SUCH

AS THINNING OF SPINAL CORD,

WHITE MATTER CHANGES IN THE

BRAIN, OPTIC NEUROPATHY, AND

OTHER ABNORMALITIES SEEN IN GAN

AND WE HOPE THIS WILL NOT ONLY

ADVANCE PERHAPS OUTCOME MEASURES

FOR TRIALS IN GAN BUT MAY ALSO

LEND ITSELF TO OTHER SIMILAR

DISORDERS.

SO JUST BRIEFLY, AGAIN FOR THOSE

NOT FAMILIAR WITH GAN, IT'S A

VERY RARE DISEASE BUT CHILDREN

MAY START WITH NORMAL EARLY

MOTOR DEVELOPMENT OR VERY MILDLY

DELAYED BUT THEN VERY QUICKLY

PROGRESS BY 3, 4 YEARS OLD TO

HAVE ABNORMALITIES IN WALKING,

EVENTUALLY TO LOSS OF

INDEPENDENT WALKING, BUT THERE

ARE MANY OTHER FEATURES

INCLUDING ABNORMAL COORDINATION

AND SLURRED SPEECH, DECREASE IN

VISION, DIFFICULTIES WITH

SWALLOWING, URINARY

DIFFICULTIES, AND ULTIMATELY AS

WELL DIFFICULTY WITH BREATHING

THAT CAN OFTEN BE THE CAUSE OF

DEATH IN THESE PATIENTS IN THEIR

TEENAGE YEARS OR IN THEIR 20s.

THESE ARE TWO SIBLINGS AT AGES 2

AND 4, AGAIN AT 22 AND 24, JUST

TO HIGHLIGHT THAT GAN REALLY IS

A RELENTLESSLY PROGRESSIVE

DISEASE FOR WHICH PRIOR TO THIS

TRIAL THERE WERE NO THERAPEUTIC

OPTIONS BESIDES SUPPORTIVE CARE

WHICH MADE A GREAT IMPACT IN

SURVIVAL, THERE WAS STILL A LOT

TO BE DONE.

FROM OUR NATURAL HISTORY STUDY,

IT'S BEEN HELPING US IMMENSELY

TO UNDERSTAND THE PATIENTS,

THEIR DISEASE PROGRESSION AND

STAGES OF DISEASE, , INCREASE

MORBIDITY OR SYSTEMIC

INVOLVEMENT AS DISEASE ADVANCES

AND SORT OF SUPER IMPOSE

FUNCTIONAL MEASURES THAT WE'RE

MEASURES IN THE NATURAL HISTORY

STUDY SUCH AS NEUROMUSCULAR

SCALE NFN 32 ALLOWS NUMERICAL

STORES TO UNDER UNDERSTAND HOW

DISEASE IS PROGRESSING OVER

TIME, QUANTIFIABLY AND WHO WERE

THE INITIAL PHASE 1 CANDIDATES,

WHO SHOULD BE LATER PHASE 1

CANDIDATES AND PERHAPS IN LATER

PHASES OF TRIALS OR ULTIMATELY

IF YOU GAIN APPROVAL OF A DRUG

WHO SHOULD BE REALLY YOUR TARGET

INTENT TO TREAT PATIENTS, THAT

IS WHO ARE THE PATIENTS MOST

AMENABLE TO REPAIR OR PERHAPS

RESTORATION OF FUNCTION BASED ON

NERVE HEALTH.

SO REALLY THIS PROJECT, WHEN

INTRODUCED TO THE NIH TEAM, LENT

ITSELF TO A VERY UNIQUE AND

WONDERFUL OPPORTUNITY.

IT WAS THE OPPORTUNITY TO BRING

GENE THERAPY TO A VERY RARE AND

DEVASTATING PEDIATRIC

NEURODEGENERATIVE DISEASE CALLED

GAN BUT ALSO ALLOWED -- IT WAS A

PATH BREAKING REALLY FIRST IN

HUMAN INTRATHECAL APPROACH,

DELIVERING THROUGH AAV MECHANISM

INTO THE SPINAL FLUID THROUGH A

SPINAL TAP PROCEDURE, ALLOWS

ITSELF TO HOPEFULLY SET THE

STAGE FOR OTHER NEUROLOGIC

DISEASES WITH A SIMILAR TARGET.

THE PLAYERS INCLUDE THE

NON-PROFIT ORGANIZATION HANNAH'S

HOPE FUND, AS WELL ALES

PARTNERSHIP WITH ACADEMIA,

UNIVERSITY OF NORTH CAROLINA,

GENE THERAPY CENTER, DR. STEPHEN

GRAY, AND THEY ARE AGAIN FROM

THE CLINICAL PIECE OF IT, THE

CLINICAL CARE RECEIVED HERE AT

NIH, NINDS AND FINALLY THE ADDED

PARTNERSHIP IN THIS ALONG THE

WAY WITH INDUSTRY WITH BAMBOO

THERAPEUTICS AND THEN PFIZER.

YOU MIGHT ASK WHY GAN?

IT'S A MONOGENIC DISEASE, WE

KNOW THE DISEASE CAUSING THIS

DISEASE.

THE DISEASE PHENOTYPE IS

RELATIVELY SIMILAR IN PATIENTS

ACROSS THE BOARD.

AND THERE ARE NO CURRENT

TREATMENTS AVAILABLE PRIOR TO

THIS TRIAL.

IT HAS RAPID DISEASE

PROGRESSION, BUT NOT TOO FAST,

WHICH MEANS THERE'S A

THERAPEUTIC WINDOW WITHIN WHICH

YOU MIGHT BE ABLE TO MEASURE IF

YOUR INTERVENTION IS ACTUALLY

MAKING A DIFFERENCE WHETHER IT

STABILIZES DISEASE OR PERHAPS IN

THE IDEAL SITUATION WOULD

REVERSE THE DISEASE.

IT'S A SMALL GENE WHICH IS VERY

IMPORTANT BIOLOGICALLY WHEN YOU

THINK ABOUT USING AAV-BASED

TECHNOLOGY, THAT IS WHEN YOU'RE

INSERTING GENE OF INTEREST INTO

THIS AAV SHELL OR CAPSID, AND

THEN FINALLY THIS SERVES AS A

MODEL AGAIN FOR OTHER DISORDERS

WITH SIMILAR TARGET, YOUR

CENTRAL NERVOUS SYSTEM, BRAIN,

SPINAL CORD.

THERE ARE SOME LIMITATIONS IN

THE STUDY.

FOR EXAMPLE, THERE'S BEEN NO

LARGE ANIMAL MODELS OF THE

DISEASE AND SO THERE IS A MOUSE

MODEL BUT IT HAS A MILDER

PHENOTYPE THAN THE PATIENTS,

WITH GAN BEING ULTRA RARE IT HAS

IMPORTANT CONSIDERATION WHEN YOU

THINK ABOUT TRIAL DESIGN

ESPECIALLY FOR FUTURE PHASES OF

THE TRIAL.

AND THIS SLIDE GIVES GENERAL

CONCEPTS TO THE PROCESS HERE SO

WE HAVE AGAIN AAV 9 OR

ADENOASSOCIATED VIRUS,

SINGLE-STRANDED DNA VIRUS.

YOU INSERT YOUR GENE OF INTEREST

IN THIS CASE WE'RE USING A WEAK

JET PROMOTER TO DRIVE THE GENE

EXPRESSION, AND THIS WAS AGAIN

THIS APPROACH IN TECHNIQUE WAS

DEVELOPED AT UNC BY DR. STEPHEN

GRAY AND HIS TEAM.

WE'RE USING PHASE 1 DOSE

ESCALATION STUDY, WE GIVE IT

THROUGH LUMBAR PUNCTURE OR

SPINAL TAP APPROACH,, INFUSION

10 1/2 MINUTES, TO IMPROVE

TRANSDUCTION THROUGH THE SPINAL

CORD AND THE BRAIN WE KEEP THE

PATIENT IN A HEAD TILTED DOWN OR

TREN DELLENS ABOUT BURG POSITION

TO REACH THE BRAIN AND SPINAL

WORTH.

BIOLOGY BEHIND THIS, YOU HAVE

THE AAV 9 ENTERING THE CELL

THROUGH RECEPTOR MEDIATED

ENDOCYTOSIS, UNENCODED, YOU HAVE

THE GENE OF INTEREST NOT

INTEGRATING INTO THE HOST

GENOME, BUT ENTERS INTO THE

PATIENT'S -- NUCLEUS OF THE

CELLS, AND THEN ULTIMATELY YOU

GET PROTEIN THAT'S PRODUCED,

REMAINS INTRACELLULAR,

NON-EXCRETED.

PHASE 1 NONRANDOMMIZEDs TRIAL

SINCE 2015 TO NOW WE'VE INJECTED

7 PATIENTS WITH GAN, AND SO

SINCE THE TRIAL BEGAN WE HAVE

SIX MIX SENSE PATIENTS, ONE NULL

MUTATION PATIENT THAT'S BEEN

INJECTED WITH SLIGHTLY DIFFERENT

PROTOCOL.

AND OUR PRIMARY GOAL IS TO

ASSESS SAFETY.

AGAIN, THE CLINICAL CENTER HAS

GIVEN US UNIQUE OPPORTUNITIES

BECAUSE IT ALLOWS US TIME TO

HAVE PATIENTS STAY ON CAMPUS FOR

US TO REALLY FOLLOW THEM OVER

WEEKS AFTER GENE TRANSFER, AND

SO THEY CAN STAY OUTPATIENT THE

CHILDREN'S INN AND COME

REGULARLY FOR VISITS AND

UNDERSTAND HOW THE DRUG IS

IMPACTING IN TERMS OF SAFETY.

AND SO IN TERMS OF PRELIM

CONCLUSIONS, PRE-TRIAL, NATURAL

HISTORY STUDIES INVALUABLE IN

THIS STUDY, FINALLY THERE'S

IMPORTANCE TO NETWORKS BETWEEN

PATIENT CARE ORGANIZATIONS,

ACADEMIA, INDUSTRY AND

CLINICIANS, INTRATHECAL GENE

TRANSFER IS FEASIBLE AND WELL

TOLERATED LEADING TO LOWER DOSE

REQUIRED AND LOWER IMMUNOLOGIC

RISK.

I END WITH THIS GROUP AT THE

BASE OF THIS ALL, THEN SPARKING

INTEREST OF ACADEMIA,

CLINICIANS, INDUSTRY, ROLE OF

REGISTRIES AND BIOBANKING AND

NATURAL HISTORY STUDIES, AS WELL

AS THEN NEXT STEPS GETTING

THINGS THROUGH REGULATORY

PROCESSES, VECTOR MANUFACTURING,

AND ULTIMATELY ALL OF THIS WITH

THE HOPES WE CAN IMPROVE THE

LIVES OF PATIENTS WITH RARE

DISEASES.

AND SO WITH THAT AGAIN I'D LIKE

TO THANK MANY PEOPLE WHO HAVE

BEEN INVOLVED IN THIS STUDY, AND

MOST IMPORTANTLY OUR PATIENTS

FOR ALL OF THEIR EFFORTS AND

ENERGY AND HOPE THAT THEY

PROVIDE US 

ALL.

[APPLAUSE]

>> THANK YOU VERY MUCH, DIANA.

ONE OF THE THINGS THAT WE'VE

TRIED TO DO WITH THIS SESSION IS

KIND OF WALK YOU THROUGH A

NUMBER OF AREAS WHERE GENETICS

HAS BECOME REALLY IMPORTANT.

WE STARTED OUT WITH THE ZIKA

VIRUS AND HOW GENETICS IS BEING

USED TO CREATE VACCINES.

WE'VE TALKED ABOUT GENE EDITING

FOR DISEASE MODELS AND GENE

THERAPY.

WHICH IS A REALLY EXCITING

ADVANCE.

NOW WE HAVE TWO TALKS THAT ARE

GOING TO START TALKING ABOUT

PRECISION MEDICINE, IT'S BEEN IN

THE NEWS, IT'S ACTUALLY BEING

FUNDED IN 21ST CENTURY CURES,

IT'S AN INTERESTING APPROACH TO

TARGETING THE RIGHT PEOPLE TO

GET THE RIGHT TREATMENTS, AND SO

THE FIRST TALK WE HAVE IS FOR

BRIAN BROOKS, TALKING ABOUT

ALBINISM, A PRECISION MEDICINE

TYPE OF APPROACH HE'S TAKING.

[APPLAUSE]

>> THANK YOU ALL FOR THE WARM

WELCOME.

THANK YOU FOR THE INTRODUCTION.

TWO OTHER THREADS I WANT TO

EMPHASIZE FOR MY TALK, ONE, CAN

WE MAKE DEVELOPMENTAL DISEASE IN

CHILDREN TREATABLE,

DEGENERATIVE, CAN WE MAKE

DEVELOPMENTAL DISEASE TREATABLE

AND TWO, REPURPOSE DRUGS THAT

ARE ALREADY ON THE SHELF FOR ONE

PURPOSE AND USE IT FOR ANOTHER.

SO THIS IS THE STORY THAT I'LL

TELL YOU.

IF MY ADVANCER WORKS.

THIS ONE PROGRAMS.

THERE WE GO.

ALBINISM IS AN AUTOSOMALLAL

RECESS CONDITION, CHARACTERIZED

BY REDUCE MELANIN PIGMENTATION

IS HAIR, SKIN AND EYES.

IT'S THE BROWN-BLACK PIGMENT WE

ALL HAVE THAT STARTS WITH

TYROSINEAMINO ACID IN THE DIET,

FORMS A BROWN, BLACK OR

RED-BROWN MATERIAL.

THE FIRST ENZYME IS TYROSINASE.

MELANIN NEEDS TO BE PACKAGED

INSIDE CELLS.

THIS IS VERY IMPORTANT WHEN

THINKING ABOUT THERAPIES, YOU

NOT ONLY WANT YOUR PRODUCT, YOU

WANT IT IN THE RIGHT PLACE DOING

THE RIGHT THING.

IN ORDER FOR MELANIN TO WORK AND

NOT CAUSE US HARM IT HAS TO BE

PACKAGED IN THESE LITTLE PACKETS

CALLED MELANOSOMES, IMPORTANT IN

ONE OF THE SLIDES I'LL SHOW

SHORTLY.

WHY AM I TELLING YOU THIS?

I'M A PEDIATRIC OPHTHALMOLOGIST

AND GENERALETTIST.

PEOPLE WITH ALBINISM, NO MATTER

WHAT PAIR OF GLASSES, I CANNOT

OR HER 20/20.

THIS IS A MICROSCOPE WE CAN

LOOK.

THIS IS CALLED IRIS

TRANSILLUMINATION, WHAT WE'RE

SEEING HERE.

YOU'RE ALL FAMILIAR WITH RED EYE

REFLEX WHEN YOU TAKE A ACCOUNT

APPROXIMATE, LIGHT REFLECTED OFF

THE BACK OF THE EYE THROUGH THE

PUPIL, JUST A HOLE.

NOW, IN YOU AND ME, THE MELANIN

PIGMENTED IN OUR IRIS BLOCKS

THAT, IN ALBINISM MORE SHINES

THROUGH, AN IMPORTANT THING TO

KEY IN LATER.

ALBINISM IS NOT ONE CONDITION.

IT COMES IN GENETIC FLAVORS, THE

ONE HERE IS OCA1 DUE TO

MUTATIONS IN THE FIRST FIRST

ENZYME TYROSINASE.

SOME PATIENTS WITH WHITE HAIR

AND PALE MILKY SKIN HAVE OCA,

FOR THE SAKE OF THE TRIAL YOU

GENETICALLY HAD TO HAVE OCA1B,

BECAUSE WE WEREN'T SURE WHETHER

IT WOULD WORK IN ANY OF THESE

AND IN FACT THERE MIGHT HAVE

BEEN SOME CONCERN IT COULD HAVE

CAUSED HARM.

WE NEEDED TO MAKE SURE AND YOU

COULDN'T TELL, JUST BY LOOKING

AT THE PATIENT.

SO WHY ARE WE DOING THIS?

RIGHT NOW WE DON'T REALLY HAVE

ANY GREAT TREATMENTS.

WE CAN GIVE THEM THE BEST PAIR

OF GLASSES, PATCH THEM, LOW

VISIONATES, ALL SUPPORTIVE.

CAN WE MAKE A DIFFERENCE?

THIS RAISES A VERY INTERESTING,

TO ME, SCIENTIFIC QUESTION.

SO WHY IS IT THAT WHEN A CHILD

IS BORN INCAPABLE OF MAKING A

NORMAL AMOUNT OF MELANIN, WHY

DOES THAT AFFECT VISION, VISUAL

DEVELOPMENT?

AND PERHAPS MORE IMPORTANTLY, IF

WE HAD A TREATMENT TO IMPROVE

MELANIN PIGMENTATION, MAYBE EVEN

FOR JUST A PERIOD OF TIME, COULD

WE MAKE A POSITIVE IMPACT ON

THAT PATIENT?

SO THE STORY I WANT TO TELL YOU

FOCUSES ON VERY SMALL AREA OF

THE RETINA.

LIGHT FOCUSED FROM THE FRONT OF

THE EYE, FOCUSES ON SMALL AREA

OF THE RETINA WHICH CONVERTS

LIGHT INTO ELECTRICAL SIGNALS

THAT IT SENDS BACK INTO YOUR

BRAIN.

THAT AREA OF THE RETINA IS

CALLED THE FOVEA, PERFECT 20/20

VISUAL ACUTEY, NO BLOOD  VESSELS

OVER THAT AREA.

THE CRITICAL POINT IS IN ALL OF

US WHEN WE WERE BORN, OUR FOVEA

WAS IMMATURE, KNOWN FOR DECADES.

SO THAT PERHAPS GIVES US A

WINDOW.

THIS IS THE CENTRAL HYPOTHESIS.

PERHAPS IF WE WERE TO IMPROVE

MELANIN SYNTHESIS, PERHAPS ONLY

FOR A PERIOD OF TIME, AT THAT

CRITICAL POINT IN DEVELOPMENT,

COULD WE MAKE A POSITIVE IMPACT,

EVEN IF WE DON'T NECESSARILY

UNDERSTAND WHAT THE MECHANISM IS

WE WANT TO UNDERSTAND THAT BUT

EVEN IF WE DON'T UNDERSTAND IT

MAYBE WE CAN CONNECT THE TWO

DOTS, RIGHT?

THIS IS MY PIPE DREAM.

THIS IS WHAT I'D LIKE BEFORE I

RETIRE.

I'D LIKE A BABY TO BE IDENTIFIED

THROUGH NEWBOR SCREENINGS

HAVING ALBINISM AND WE CONFIRM

THAT AND THEN WE EXACT A

TREATMENT AGAIN MAYBE EVEN ONLY

FOR A PERIOD OF TIME.

FOVEA DEVELOPS OVER THE COURSE

OF A COUPLE YEARS.

SO PATIENTS WITH OCA1 AS I

MENTIONED THEY HAVE PROBLEMS AT

THE FRONT END HERE.

THEY ARE NOT ABLE TO TAKE THIS

AMINO ACID TYORISINE AND SHUTTLE

IT THROUGH THE PATHWAY.

SO HOW MIGHT WE GET THAT PATHWAY

TO GET MOVING?

IT'S STUCK IN A PLACE.

WELL, ONE WAY MIGHT BE TO

INCREASE THE SUBSTRATE BY WHICH

I MEAN INCREASE TYROSINE, RIGHT?

WE KNOW THIS IS A FANCY GRAPH,

WHAT HAPPENS WHEN YOU INCREASE

IN THIS CASE TYROSINE, WHATEVER

THE SUBSTRATE FOR ENZYME IS, THE

MORE YOU INCREASE SUBSTRATE THE

HARDER THE WORK THE ENZYME.

YOU RUN OUT OF STEAM BUT IF YOU

CAN KEEP YOUR ENZYME WORKING UP

HERE, MAYBE THAT WOULD WORK.

IT ALSO TURNS OUT THAT THE

SUBSTRATE OF ENZYMES, ENZYMES

CONVERT A TO B HEALTHY ENZYMES

FOLD PROPERLY.

MANY PROTEINS THAT ARE MUTATED,

THEY DON'T FUNCTION -- THEY

DON'T FOLD PROPERLY AND

THEREFORE DON'T FUNCTION

PROPERLY SO MAYBE THIS CAN ACT

œSO, DOC, CAN I EAT A LOT OF?

TYROSINE, A LOT OF CHICKEN OR

SOMETHING LIKE THAT?

AND THAT PROBABLY WOULDN'T WORK,

RIGHT?

SO ONE, YOU PROBABLY WOULDN'T BE

A SORB IT IN YOUR G.I. TRACT,

AND IF DID YOU WOULD EXCRETE IT.

WHAT YOU WANT TO DO IS INCREASE

LEVEL OF THAT TYROSINE INSIDE

YOUR CELLS.

SO WHEN I WAS IN TRAINING HERE

AT THE NIH, I LEARNED ABOUT

ANOTHER RARE DISEASE CALLED

TYROSINE ANEMIA TYPE 1 FROM

MENTOR BILL GALL TAUGHT BY BILL

BUNCHET.

THESE PATIENTS HAVE PROBLEMS

HERE AT THE TAIL END OF THAT

DEGRADATION PROCESS.

THE PROBLEM WITH THAT IS THAT

THEY BUILD UP TOXICS THINGS IN

THE MIDDLE, THAT HURT THE LIVER,

HURT THE KIDNEYS AND EVENTUALLY

WILL KILL THE CHILD IF NOT

TREATED.

LUCK -- OKAY.

LUCKILY.

SO THERE'S A BLOCK DOWN HERE.

RIGHT.

AND YOU GET TOXIC INTERMEDIATES

AND THOSE THINGS WILL HURT THE

CHILD, OKAY?

LUCKILY, WE HAVE A GENE, OR HAVE

A DRUG RATHER, THAT BLOCKS

TYROSINE  DEGRADATION UP HERE

BEFORE WE MAKE THE BAD STUFF.

AS A SIDE EFFECT OF THIS DRUG IT

INCREASES THE CONCENTRATION OF

TYROSINE INSIDE CELLS.

THAT'S WHAT WE WANT.

WE HAVE A LOT OF EXPERIENCE.

SO I'M GOING TO SHOW YOU SOME

MICE.

THIS IS A MOUSE MODEL OF OCA1A

WITH NO MELANIN, THIS IS A MODEL

OF OCA1B WHERE YOU HAVE JUST A

LITTLE BIT OF MELANIN.

NOW, TURNS OUT THESE MICE ARE

GENETICALLY IDENTICAL, EXCEPT

FOR THAT ONE CHANGE IN THE

ENZYME TYROSINASE.

WE FED THEM ORALLY OVER THE

COURSE OF THREE MONTHS, I'M

SORRY OVER ONE MONTH, THREE TO

FOUR MONTH OLD MICE AND OBSERVED

WHAT WE DID.

THIS IS A BLACK MOUSE.

WHEN YOU SHAVE AN AREA OF FUR

YOU HAVE INCREASED RATE OF

MELANIN PRODUCTION NORMALLY.

IN THESE OCA1A MICE DIDN'T WORK

VERY WELL BUT IN OCA1B MICE THE

FUR GROWS BACK BROWN.

WHEN WE LOOKED AT THE EYES, HERE

IS THAT IRIS TRANSILLUMINATION,

VEHICLE TREATED, AND TREATED.

YOU START AFTER A MONTH TO SEE

MELANIN PIGMENTATION AND LOOK

WITH A SPECIAL MICROSCOPE START

TO SEE MELANIN IN VARIOUS

TISSUES OF THE EYE, PACKAGED IN

THOSE MELANOSOMES THAT WE WERE

TALKING ABOUT.

THIS IS FDA APPROVED.

BABIES ARE TREATED WITH THIS

COMPOUND.

WHAT IF WE PUT IT INTO HUMANS?

AND SO WE'VE ESTABLISHED AND

HAVE JUST COMPLETED A PILOT

TRIAL OF FIVE -- IN THIS CASE A

ADULT PATIENTS WITH OCA1B

TREATED WITH MEDICATION OVER THE

COURSE OF A YEAR.

THEY ARE VARYING DEGREES OF IRIS

TRANSILLUMINATION.

I DIDN'T POINT OUT BUT THIS IS

WHAT THE BACK OF THE EYE LOOKS

LIKE WHEN THERE'S REDUCED

MELANIN.

THEY HAVE VARYING MUTATIONS AND

VARYING DEGREES OF VISUAL

ACUITY.

AND SO WE'RE NOW IN THE PROCESS

OF ANALYSIS.

WE DID NOT EXPECT VISION WOULD

IMPROVE.

THIS IS A PROOF-OF-CONCEPT

EXPERIMENT.

WE FIRST WANT TO DO NO HARM.

SEE WHETHER MELANIN PIGMENT

IMPROVES IN OUR ADULT PATIENTS,

AND IF WE THINK IT DOES, THEN

WE'RE GOING TO MOVE DOWN THE AGE

CHAIN BECAUSE ULTIMATE GOAL IS

OF COURSE TO TREAT OUR CHILDREN.

WITH THAT I WILL WRAP UP AND I

WILL THANK ALL THE MANY PEOPLE

WHO HELPED 

WITH THIS WORK.

[APPLAUSE]

>> SO OUR NEXT SPEAKER IS

STEPHANIE DEVANEY, AND SHE COMES

TO US FROM THE -- WHAT USED TO

BE KNOWN AS THE PRECISION

MEDICINE INITIATIVE, IT'S BEEN

REBRANDED AS THE "ALL OF US"

RESEARCH PROGRAM AND SHE'S GOING

TO TALK ABOUT HOW WE'RE GOING TO

TAKE PRECISION MEDICINE ON A

LARGER SCALE AND TURN ALL THE

COMMON DISEASES INTO MULTIPLE

NUMBERS OF RARE DISEASES.

SO STEPHANIE.

[APPLAUSE]

>> THANK YOU VERY MUCH.

HI.

THANK YOU VERY MUCH FOR HAVING

ME.

THIS IS SUCH AN IMPORTANT EVENT

AND I'M GRATEFUL FOR THE

OPPORTUNITY TO BE HERE TO SHARE

WITH ALL OF YOU WHAT WE ARE

TRYING TO BUILD WHICH WE HOPE

WILL BE A RESOURCE FOR

SCIENTIFIC DISCOVERY TO LEAD TO

MORE PRECISION MEDICINE KEEPING

PEOPLE HEALTHIER LONGER AND ALSO

PLATFORM FOR INVESTIGATIONS

ACROSS ALL DISORDERS.

SO MY TALK IS GOING TO BE

DIFFERENT FROM WHAT WE'VE HEARD

HERE TODAY.

I WANTED TO DESCRIBE WHAT WE'RE

TRYING TO DO AND HOPE THAT IT

INSPIRES THE SAME POTENTIAL THAT

WE FEEL EVERY DAY GOING TO WORK.

I AM THE DEPUTY DIRECTOR OF THE

"ALL OF US" RESEARCH PROGRAM,

CENTRAL COMPONENT OF PRECISION

MEDICINE INITIATIVE, ANNOUNCED

AND LAUNCHED BY PRESIDENT BARACK

OBAMA, AT THE 2015 STATE OF THE

UNION ADDRESS WITH THE INTENTION

WE COULD REVOLUTIONIZE MEDICINE

IF WE SPENT THE TIME BUILDING

THE RIGHT FOUNDATIONS.

WHAT WE'RE HOPING TO DO IS

ENGAGE ONE MILLION OR MORE

VOLUNTEERS WHO LIVE IN THE

UNITED STATES TO ENROLL IN THIS

PROGRAM, AND OVER A LONG PERIOD

OF TIME VOLUNTEER DATA ABOUT

THEMSELVES IN AN ONGOING BASIS.

WE ARE HOPING TO COLLECT ALL

DIFFERENT TYPES OF HEALTH AND

LIFESTYLE DATA WHICH I'LL GO

OVER LATER IN THE TALK, THIS

WILL PROVE TO BE A RESOURCE THAT

PROVIDES OPPORTUNITIES FOR

RESEARCHERS AND WE THINK OF

RESEARCHERS BROADLY FROM MORE

TRADITIONAL RESEARCHERS, CITIZEN

SCIENTISTS, AND THEN BY ALLOWING

THEM TO ACT AS DATABASES BUT

JUST TO MENTION ONE MORE TIME

THIS STUDY THAT I'M TALKING

ABOUT TODAY IS NOT ABOUT ANY

PARTICULAR DISEASE.

THIS IS ABOUT BUILDING THE

RESOURCE PLATFORM FOR ALL SORTS

OF DIFFERENT TYPES OF STUDIES.

SO WHEN WE BEGAN BUILDING THIS

INITIATIVE, WE REALLY STOPPED

FOR A MOMENT AND THOUGHT ABOUT

WHAT OUR CORE VALUES WERE.

AND WE ACTUALLY HEARKEN BACK TO

THESE QUITE A BIT AS WE'RE

BUILDING THE PROGRAM.

THIS PROGRAM REALLY IS AN ACTIVE

BUILD PHASE RIGHT NOW, WE

IT'S IMPORTANT TO REMEMBER WHAT

THE VALUES ARE, THE THING THAT

HELPS US AS WE BUILD THE PROGRAM

AND STICK TO THESE.

FIRST OF ALL PARTICIPATION WILL

BE OPEN TO EVERYONE.

AND THEN THAT GOES ALONG WITH

THE SECOND BULLET THAT WE WANT

TO TRY TO REFLECT THE DIVERSITY

OF AMERICA, OR OF ANYONE LIVING

IN THE UNITED STATES.

WE FEEL THAT NOT ONLY SHOUD%

WHAT COMES OUT OF THIS PROGRAM

BE OPEN TO EVERYONE AND HELP US

DECREASE HEALTH DISPARITIES BUT

THAT THE OPPORTUNITIES TO

VOLUNTEER AND PARTICIPATE IN

RESEARCH SHOULD BE OPEN TO

EVERYONE.

WE WANT TO BE SURE THAT

PARTICIPANTS WHO JOIN THIS STUDY

FEEL LIKE THEY ARE PARTNERS IN

THE PROGRAM, AND THIS MEANS THAT

WE NEED TO HAVE TRUST AND WE

NEED TO BE THINKING ABOUT WHAT

IT MEANS TO REALLY BE ENGAGED IN

RESEARCH, AND HAVE FULL

TRANSPARENCY WITH OUR

PARTICIPANTS.

THIS IS NOT GOING TO BE EASY IF

WE'RE TALKING ABOUT MILLIONS OF

PEOPLE SO WE'RE GOING TO HAVE TO

BE CREATIVE HERE AND LEARN A LOT

FROM OUR  PARTICIPANTS.

PARTICIPANTS WILL HAVE ACCESS TO

INFORMATION AND DATA ABOUT

THEMSELVES.

WE KNOW FROM STUDIES AND ASKING

PEOPLE ONE OF THE GREATEST

INCENTIVES TO ENROLL IS THEY ARE

GETTING INFORMATION BACK,

THERE'S ALSO ALTRUISM AND

FACTORS THAT PEOPLE DO WANT TO

LEARN THINGS, UNDERSTAND WHAT

SCIENCE IS COMING OUT OF

RESEARCH AND LEARN THINGS ABOUT

THEMSELVES.

SO WE WANT TO THINK DEEPLY ABOUT

WHAT WE CAN GIVE BACK TO PEOPLE

AND CREATIVE WAYS TO DO THAT.

ALSO IMPORTANTLY, THAT DATA FROM

THIS PROGRAM WILL BE BROADLY

ACCESSIBLE TO EMPOWER RESEARCH,

HOW WE THINK ABOUT RESEARCHERS

AND MAKING SURE WE MAKE THIS

RESOURCE OPEN TO A WIDE SWATH OF

RESEARCHERS.

IN OUR EFFORT TO MAINTAIN TRUST

WITH OUR PARTICIPANTS, WE NEED

TO THINK ABOUT PRIVACY AND

SECURITY, ALL ALONG THE WAY.

WE HAVE BEEN THINKING OF BOTH OF

THESE IMPORTANT FACTORS AS WE

ARE BUILDING THE PROGRAM AND NOT

AS ADD-ONS.

AND FINALLY THAT THIS PROGRAM

CAN BE A CATALYST FOR INNOVATIVE

RESEARCH PROGRAMS, POLICIES,

TECHNOLOGY DEVELOPMENT, ET

CETERA.

SO JUST A LITTLE BIT MORE ON A

COUPLE OF THESE CORE VALUES.

WHEN WE THINK ABOUT DIVERSITY WE

DO THINK ABOUT THIS BEYOND RACE

AND ETHNICITY.

WE THINK ABOUT IT IN TERMS OF

HEALTH STATUS, ACCESS TO HEALTH

CARE, AGE, GEOGRAPHY, AND EVEN

IN TERMS OF DATA TYPE.

SO WHAT IS THE DIVERSITY OF DATA

TYPES THAT WE CAN COLLECT ON

FOLKS.

HERE IS A SCHEMATIC SHOWING WHAT

WE KNOW FROM SOME PARTNERS

ALREADY WORKING WITH US ON THE

PROGRAM THAT WILL BEGIN

ENROLLING PARTICIPANTS AND I'LL

GET TO THAT LATER BUT THIS IS

WHAT WE KNOW.

THIS IS THE LEVEL OF DIVERSE

THIS WE KNOW WE COULD ACHIEVE IN

SPECIFIC REGIONS OF THE U.S.

I WANT TO TALK MORE THIS WAY.

WE'VE BEEN THINKING ABOUT WHAT

IT REALLY MEANS TO HAVE A

DIVERSE  A

DIVERSE RESEARCH COHORT, THOSE

TRADITIONALLY REPRESENTED IN

RESEARCH, THOSE UNDERREPRESENTED

IN RESEARCH AND HOPE WE CAN GET

TO A PLACE WHERE WE HAVE AN

OVERWHELMING NUMBER OF FOLKS WHO

HAVE BEEN UNDERREPRESENTED IN

THE PAST IN COMMUNITIES THAT

HAVE BEEN UNDERREPRESENTED IN

THE PAST INVOLVED IN THE

PLATFORM TO START TO LEARN MORE

ABOUT SOME COMMUNITIES.

SO WE THINK ABOUT THIS IN TERMS

OF GENDER, RACIAL AND ETHNIC

GROUPS, SEXUAL AND GENDER

MINORITIES, DISADVANTAGED

BACKGROUNDS, BOTH IN SDS AND

EDUCATION AND OCCUPATION, PEOPLE

WITH WITH DISABILITIES,

GEOGRAPHICALLY AND CULTURALLY

ISOLATESSED.

I MENTIONED EARLY ON WE WANT TO

THINK ABOUT OUR PARTICIPANTS AS

PARTNERS.

THIS IS VERY IMPORTANT TO US.

WE DON'T EVER TALK ABOUT HUMAN

SUBJECTS.

WE TALK ABOUT HUMAN

PARTICIPANTS.

WE HAVE ALREADY BEEN WORKING

WITH POSSIBLE PARTICIPANTS.

WE DON'T HAVE ANY PARTICIPANTS

IN THE STUDY NOW BUT WITH PEOPLE

WHO COULD BE PARTICIPANTS AND

ASKING THEM TO HELP US THINK

ABOUT DIFFERENT ASPECTS OF THE

PROGRAM INCLUDING PROTOCOL, WHAT

WE COLLECT, LAB ANALYSIS, WHAT

RESEARCH IS CONDUCTED, A BIG

FUN, FUN TO WORK WITH

PARTICIPANT GROUP AND UNDERSTAND

WHAT TYPES OF RESEARCH THEY

WOULD LIKE US TO DO A PLATFORM

LIKE THIS AND HOW DATA GETS

RETURNED, WHAT THEY WANT TO

KNOW, WHAT INFORMATION THEY NEED

WITH SPECIFIC RESULTS, WHAT THEY

DON'T WANT TO KNOW, ET CETERA.

WE THINK THE VALUE PROPOSITION

IS A CHANCE TO LEARN YOUR OWN

DATA, OPPORTUNITY TO FIGHT

DISEASE, AND IMPORTANTLY TO MAKE

SURE THAT YOUR COMMUNITY IS

REPRESENTED IN SCIENCE THIS WAY

AND FINALLY WE HOPE THAT IT'S

ALSO TO BE PART OF A MOVEMENT

AND TO REALLY CHANGE THE WAY WE

DO RESEARCH.

AND THEN FINALLY BEFORE I

EXPLAIN MORE OF THE NUTS AND

BOLTS OF THE PROGRAM I WANT TO

TALK ABOUT DATA ACCESS BECAUSE

WE'RE DEALING IN THE SAME WAY

THAT EVERY RESEARCH PROGRAM

DEALS, WE'RE DEALING WITH

TENSION OF DATA SECURITY AND

PRIVACY AND DATA ACCESS.

AND SO WE'RE TRYING TO BE REALLY

CREATIVE ABOUT HOW WE CAN OPEN

ACCESS TO RESEARCHERS, WHILE

ALSO MAINTAINING CONFIDENTIALITY

OF THE DATA THAT EXISTS IN

THIS -- WHAT WILL ULTIMATELY A

LARGE DATASET.

SO WE HAVE BEEN THINKING ABOUT

DATA SHARING IN TERMS OF SHARES

OF DATA, WE'LL GET MORE REFINED

OVER THE COMING YEARS.

BUT WE'RE REALLY INTERESTED IN

INVESTING IN LEVELING THE

PLAYING FIELD SO YOU DON'T HAVE

TO BE A RESEARCHERS WITH A BIG

INSTITUTION BEHIND YOU IN ORDER

TO ACCESS THE DATA.

AND AGAIN AS I MENTIONED BEFORE,

MAKING SURE THAT PARTICIPANTS

HAVE ACCESS TO STUDY INFORMATION

DATA ABOUT THEMSELVES IS ANOTHER

BIG COMPONENT IN TERMS OF HOW WE

OFFER ACCESS.

SO IF A RESEARCHERS IS GOING TO

RESEARCH SPECIMENS THEY NEED TO

RETURN THAT INFORMATION BACK TO

THE RESOURCE AND WE'RE GOING TO

BE SHARING THAT BACK WITH

PARTICIPANTS.

SO NOW I'LL TAKE A FEW MINUTES

TO DESCRIBE WHERE WE ARE WITH

THE PROGRAM.

WE HAVE FUNDED THE DIFFERENT

COMPONENTS OF THE PROGRAM.

THIS IS WHAT WE CALL THE

INFRASTRUCTURE AND EVERYONE IN

THESE BLOCKS ARE BUILDING

RAPIDLY TO TRY AND GET THIS

THING OFF THE GROUND.

WE HAVE A DATA AND RESEARCH

CENTER WHICH IS BEING BUILD BY

VANDERBILT UNIVERSITY WITH BROAD

AND VERILY, FORMERLY GOOGLE LIFE

SCIENCES, HOLDING AND

MAINTAINING, THE PLACE WHERE

RESEARCHER TOOLS WILL BE AND

YOU'LL GET ACCESS.

ANY RESEARCHERS THAT WANTS TO

ACCESS WILL DO SO IN A SECURE

ENCLAVE, NOT DOWNLOADED ON

PERSONAL COMPUTERS.

MAYO CLINIC IS BUILDING ONE OF

THE WORLDEST LARGEST BIOBANKS.

SCRIPPS AND VIBRANT HEALTH ARE

WORKING ON PARTICIPANT

TECHNOLOGY CENTER.

THIS IS THE PARTICIPANT FACING

PART OF OUR PROGRAM, HOW

INDIVIDUALS WILL ENROLL IF THEY

ARE NOT CLOSE TO A CLINICAL

ENROLLMENT SITE.

I'LL TALK A LITTLE BIT MORE

ABOUT THAT IN A MOMENT.

AND THEN OUR HEALTH CARE

PROVIDER ORGANIZATION PARTNERS.

SO THESE ARE THE HEALTH CARE

ORGANIZATIONS BOTH SMALL AND

LARGE THAT WE HAVE FUNDED TO

ACTUALLY BE ENROLLMENT SITES FOR

PARTICIPANTS TO WALK IN.

WE HAVE A NUMBER OF THEM.

I'LL GOING TO SHOW A SLIDE WITH

A MAP AND TALK MORE ABOUT THEM

IN A MOMENT.

ANYONE WHO WANTS TO ENROLE CAN

ENROLL AS DIRECT VOLUNTEERS ON

SMARTPHONE OR COMPUTERS THROUGH

THE WEB OR BY CALLING A CALL

CENTER OR ENROLL THROUGH ONE OF

THE HEALTH PROVIDER CARE

ORGANIZATIONS WE'RE FUNDING TO

BE PART OF THE PROGRAM.

WE HOPE TO EXPAND BOTH NETWORKS

OVER TIME BUT DIRECT VOLUNTEER

PORTAL IS IMPORTANT BECAUSE THIS

IS OPEN TO EVERYONE.

IF YOU DON'T LIVE NEAR A MEDICAL

CENTER OR COMMUNITY CLINIC THAT

WE'VE PARTNERED WITH, WE NEED

THOSE FOLKS TO HAVE WAY TO

ENROLL IN THE STUDY.

HERE IS A MAP SHOWING PARTNERS

WE HAVE SO FAR WITH THE FUNDS

FROM CONGRESS IN FY16.

IF FUNDING ALLOWS WE'LL EXPAND

THIS NETWORK BUT YOU CAN SEE

WE'VE GOT PRETTY LARGE REGIONAL

MEDICAL CENTERS THAT REPRESENT A

PRETTY LARGE CATCHMENT AREA AND

LARGE NUMBER OF PATIENTS WITH

MANY DIFFERENT DIVERSITIES IN

TERMS OF GEOGRAPHIC OR

ETHIC/RACIAL, ET CETERA.

WE'RE WORKING WITH FEDERALLY

QUALIFIED HEALTH CENTERS TO GET

AT MORE COMMUNITY CLINIC

POPULATION IN MORE RURAL AREAS.

AND THEN THE V.A. WHO IS

ACTUALLY NOT ON HERE BUT THE

VETERANS ADMINISTRATION IS GOING

TO BE STARTING OUT WITH AT LEAST

FIVE SITES AND HOPEFULLY

EXPANDING OVER TIME SO WE'LL BE

ENROLLING VETERANS AS WELL INTO

THE PROGRAM.

SO HERE IS IF SOMEBODY JOINS THE

PROGRAM, HERE IS WHAT THEY WILL

DO AT THE OUTSET.

ANSWER A BUNCH OF SURVEYS, I'LL

TALK ABOUT THAT IN A MOMENT.

PROVIDE ACCESS TO ELECTRONIC

HEALTH RECORD WHICH WILL BE AN

ONGOING THING, WE'LL HAVE

CLINICAL INFORMATION, REAL TIME,

IN ADDITION TO OTHER INFORMATION

ON EVERYONE.

THEY WILL UNDERGO BASELINE

PHYSICAL EVALUATION AND OFFER

BLOOD AND URINE SAMPLE,

EVENTUALLY WE WILL ADD MOBILE

AND WEARABLE TECHNOLOGIES, AND

GEOSPATIAL ENVIRONMENTAL DATA

AND I HOPE OTHER TYPES OF DATA,

THE SCHEMATIC ON THE BOTTOM

SHOWS HOW WE THINK OF THIS, NOT

A PROTOCOL DEVELOPED AT THE

OUTSET FOR 70 YEARS.

WE DO WANT OVER TIME THIS

PLATFORM TO GROW IN TYPES OF

DATA AND TECHNOLOGIES,

UNDERSTANDING THE FIELD IS

RAPIDLY EVOLVING AND SO WE HAVE

A VERSION 1 PLATFORM WE'LL START

WITH AND ADD SURVEY MODULES,

OTHER THINGS, MOBILES, WEARABLE

SENSORS TO CAPTURE MORE DATA TO

HELP US FILL OUT THE PICTURE OF

HUMAN HEALTH.

SO INDIVIDUALS WHO ENROLL WILL

GO THROUGH ELECTRONIC CONSENT,

WE'RE IMPLEMENTING CONSENT

ACROSS THE PROGRAM EVEN ON-SITE

AT A CLINIC.

A SIMPLE DESIGN, AT THE END THE

LONG FORM CONSENT MOST

PARTICIPANTS WILL BE USED TO.

THEY WILL GO THROUGH A NUMBER OF

SURVEY MODULES, THREE TO START

OFF WITH AND WE'LL HAVE ANOTHER

FOUR OR FIVE AT THE OUTSET THAT

WE'LL USE TO KEEP PEOPLE

ENGAGED, ON THEIR SMARTPHONE OR

ON THE WEB AND YOU CAN SEE THE

INTERFACE ON THE RIGHT THAT

WE'RE  BUILDING THAT WILL SHOW

WHERE THEY ARE.

WE HOPE TO USE SURVEYS TO GIVE

PEOPLE INFORMATION BACK SO YOU

CAN SEE HOW MUCH YOU SLEEP IN

COMPARISON TO OTHER PEOPLE IN

YOUR AGE GROUP OR DEMOGRAPHIC,

SO WE'RE LOOKING AT INTERESTING

WAYS TO KEEP PEOPLE ENGAGED

UNTIL WE HAVE MORE DEEP

INFORMATION LIKE SOME GENOMIC

SEQUENCING, ET CETERA.

HERE ARE EXAMPLES OF FUTURE

SURVEYS.

I WON'T LINGER ON THIS BECAUSE

WE HAVEN'T MADE DECISIONS ABOUT

THIS YET AND DO WANT TO WORK

WITH SCIENTIFIC COMMUNITIES TO

UNDERSTAND WHAT ARE THE REAL

NEEDS AND WHAT SORTS OF SURVEYS

WE SHOULD BE ADDING SO BUILDING

THE SCIENTIFIC PRIORITIES AND

WHAT TYPES OF DATA WE COLLECT,

WE WANT TO DO THAT IN

COLLABORATION WITH SCIENTIFIC

COMMUNITY SO WE'LL BE -- THAT%

WILL BE CHANGING.

THESE ARE THE PHYSICAL

MEASUREMENTS AND BIOSPECIMENS IN

VERSION 1 THIS YEAR AND IF YOU

ENROLL THROUGH A CLINICAL CENTER

THIS WILL BE DONE THERE.

IF YOU ENROLL THROUGH DIRECT

VOLUNTEER PORTAL YOU'LL GET A

NOTES TO GO TO A WALGREEN'S OR

BLOOD DONOR CENTER WE HAVE

PARTNERSHIPS WITH DOING THE

BIOSPECIMEN DRAW AND PHYSICAL

MEASURES FROM THERE.

WE'RE OVER TIME HOPING TO BUILD

OUT A STRONG NATIONAL NETWORK.

AND SO ONE LAST THING I WANT TO

MENTION, I'M RUNNING OUT OF TIME

SO I'LL BE QUICK.

ELECTRIC HEALTH RECORDS IS

REALLY IMPORTANT TO THIS STUDY.

IF YOU ENROLL WITH ONE OF OUR

MAJOR HEALTH CARE ORGANIZATIONS,

THAT WILL BE RELATIVELY EASY

BECAUSE WE HAVE A WAY OF

TRANSMITTING THE EHR DATA TO

"ALL OF US" RESEARCH CENTER BUT

IF "ALL OF US" PROGRAM, BUT IF

YOU ARE COMING IN THROUGH YOUR

SMARTPHONE COLLECTING DATA, YOUR

EHR FROM THE VARIOUS PROVIDERS

YOU MAY HAVE AND GETTING IT INTO

OUR PROGRAM IS GOING TO BE

TRICKY.

ESPECIALLY GIVEN WHERE WE ARE

WITH EHRs IN THIS COUNTRY.

WE'VE BEEN WORKING WITH THE

OFFICE OF TO CIVIL RIGHTS TO

ENFORCE HIPAA ON MAKING SURE

PATIENTS UNDERSTAND THEIR RIGHT

TO ACCESS THEIR DATA AND SHARE

WITH RESEARCH STUDIES AND

WORKING WITH THE OFFICE OF

NATIONAL COORDINATOR FOR HEALTH

I.T. AND SEVEN LARGEST EHR

VENDORS TO BUILD TECHNOLOGY

PROVIDERS COULD PUT IN PLACE TO

TO  ALLOW A PATIENT TO SAY I
WANT

TO SEND MY DATA TO THE "ALL OF

US" RESEARCH PROGRAM PILOTED AT

12 PROVIDER SINCE WHEN WE LAUNCH

THE STUDY.

HERE IS A LIST OF SOME OF OUR

BIG POLICY ISSUES.

I WANT TO TAKE TEN SECONDS,

POLICY IS ONE OF MY PET AREAS,

THIS IS ILLUMINATING POLISHES

AND PROVIDE A PLATFORM FOR

TESTING AND DEVELOPING NEW

POLICIES THAT WILL SUPPORT

SCIENCE AND MORE INNOVATIVE

WAYS.

SO FINALLY I'LL END WITH HERE IS

WHERE WE ARE NOW, SNAPSHOT OF

WHERE WE ARE.

WE HAVE BUILT THE AWARDEE

NETWORK, EVERYONE IS BUILDING

PIECES.

WE HAVE A NEW NAME, CONTENT AND

BRAND, PART OF THE MARKETING TO

MAKE SURE IT FEELS CONSISTENT

WHEN YOU ENROLL, FINALIZING

PROTOCOL AND CONSENT DOCUMENT,

WE'RE WORKING ON ENROLLMENT

œWEBSITE AND CALL CENTER AND

SMARTPHONE APPS AND THINGS THAT

NEED TO BE IN PLACE TO ENROLL.

TESTING I.T. INTERFACES AND

SECURITY, BUILDING BIOBANK

CAPACITY, WE RECENTLY RELEASED A

FUNDING OPPORTUNITY TO GET SOME

COMMUNITY GROUPS TO HELP US WITH

ENGAGEMENT IN THEIR COMMUNITIES

SO WE'RE GOING TO START THINKIG

ABOUT ENGAGEMENT IN NEW WAYS.

AND THEN AS I MENTIONED BEFORE

WE'RE GOING TO BE LOOKING TO THE

SCIENTIFIC COMMUNITY AND TO THE

PARTICIPANT AND PATIENT

COMMUNITIES TO HELP US

UNDERSTAND WHAT OUR SCIENTIFIC

PRIORITIES SHOULD BE OVER THE

SHORT AND LONG TERM AND LAUNCH

WHEN WE'RE READY AND RIGHT,

CAREFUL TO LAUNCH SLOWLY AND

TEST, A BETA PHASE WE'LL BE

STARTING THIS SPRING, BUT WE'RE

NOT GOING TO DO A NATIONAL

LAUNCHING UNTIL THE SYSTEM IS

READY, SECURE,  HAS THE RIGHT

CAPACITY, CAN HANDLE THE PEOPLE

AND HAS THE RIGHT USERS

EXPERIENCE.

WITH THAT I WILL END, AND THANK

YOU FOR HAVING ME.

[APPLAUSE]

>> OUR FINAL SPEAKER IN THE

MORNING SESSION IS GOING TO BE

JONATHAN GOLDSMITH, GIVING THE

FIRST OF TWO TALKS FROM THE FDA,

JONATHAN IS FROM THE CENTER FOR

DRUG EVALUATION AND RESEARCH,

CDER AT THE FDA, AND LATER WE'LL

HEAR FROM GAYATARARAO IN THE

OFFICE OF PRODUCT DEVELOPMENT.

JON?

>> THANK YOU.

SO GOOD MORNING.

I WANT TO THANK THE ORGANIZERS

FOR INVITING US HERE TODAY AND

TO PARTICIPATE IN THIS REALLY

OUTSTANDING EVENT, CRITICAL

MOMENT EVERY YEAR TO COME HERE

AND SEE THE GREAT INTEREST IN

RARE DISEASES.

AND TO BE ABLE TO PARTICIPATE A

LITTLE BIT IN IT FROM THE

PERSPECTIVE OF RARE DISEASE DRUG

DEVELOPMENT AND ITS REGULATION

THAT GOES ON AT THE CENTER FOR

DRUGS.

THESE ARE MY DISCLOSURES.

I HAVE NO CONFLICTS OF INTEREST,

NOTHING TO REPORT, OPINIONS

EXPRESSED OR PERSONAL MAY NOT

REFLECT THE FOOD AND DRUG

ADMINISTRATION.

I HAVE A FEW TOPICS TO COVER IN

A FEW MINUTES, INTRODUCE YOU TO

CDER'S RARE DISEASE PROGRAM,

CHALLENGES IN RARE DISEASE DRUG

DEVELOPMENT, MENTION CONCEPT OF

REGULATORY FLEXIBILITY, WHICH

GIVES US THE REGULATORY

AUTHORITIES TO DEAL WITH A LOT

OF RARE DISEASE DRUG

APPLICATIONS, PROGRAMS WE'VE

ADVERTISED IN THE LAST FEW YEARS

THAT ACCELERATE DRUG

DEVELOPMENT, EUROPEAN MEDICINE

AGENCY AND FDA RARE DISEASE

CLUSTER WE SAID UP RECENTLY --

SET UP RECENTLY AND CLOSE WITH A

COMMENT ON THE 21ST CENTURY

CURES ACT, SOME THINGS ABOUT

PATIENT FOCUS.

RARE DISEASES PROGRAM WAS

ESTABLISHED IN 2010 TO

FACILITATE SUPPORT AND

ACCELERATE DRUG AND BIOLOGIC

PRODUCTS, REGULATED BY CDER FOR

BENEFIT OF PATIENTS WITH RARE

DISEASES, COMPLEMENTED WORK OF

THE OFFICE OF ORPHAN PRODUCTS

DEVELOPMENT OFFICE OF

COMMISSIONER AT THE FOOD AND

DRUG ADMINISTRATION.

AND YOU'LL HEAR FROM DR. RAO

ABOUT THEIR WORK THIS AFTERNOON.

WE HAVE CHALLENGES IN RARE

DISEASE DRUG DEVELOPMENT.

THESE ARE A FEW.

WE'VE HEARD ABOUT NATURAL

HISTORY STUDIES TO BE DONE

TODAY, UNFORTUNATELY THESE ARE

OFTEN POORLY UNDERSTOOD AND

CHARACTERIZED.

DISEASES TEND TO BE PROGRESSIVE,

SERIOUS, LIFE LIMITING AND

LIFE-THREATENING.

AND LACK OF APPROVED THERAPY.

THEY ARE SMALL POPULATIONS

AFFECTED RESTRICTING STUDY

DESIGN AND REPLICATION.

WE HAVE TO TAKE ADVANTAGE OF

EVERYONE OF THIS BIT OF HUMAN

CAPITAL TO DO ADEQUATE DRUG

DEVELOPMENT.

PHENOTYPIC DIVERSITY ADDS TO

COMPLEXITY, VALIDATED END

POINTS, OUTCOME MEASURES, TOOLS

AND BIO, MAKERS ARE OFTEN

LACKING.

THERE'S LACK OF PRECEDENTED.

WE FEEL COMFORTABLE WHEN WE'VE

ALREADY DONE SOMETHING BEFORE.

WE'VE LICENSED A DRUG FOR A

PARTICULAR INDICATION AND HAVE A

GOOD IDEA OF STANDARD BUT THIS

IS NOT USUALLY TRUE IN RARE

DISEASE DRUG DEVELOPMENT.

AS YOU HEARD ABOUT HALF OF THE

PEOPLE WITH RARE DISEASES ARE

CHILDREN.

AND THERE ARE IMPORTANT ETHICAL

CONSIDERATIONS FOR DEVELOPMENT

OF DRUGS FOR CHILDREN IN

CLINICAL TRIALS.

THERE MUST BE THE PROSPECT OF

DIRECT BENEFIT FOR THE

PARTICIPATION OF CHILDREN IN

THOSE TRIALS AND THIS CAN

PRESENT SOME CHALLENGES.

REGULATION OF DRUGS FOR RARE

DISEASES, ROLE OF FLEXIBILITY,

ORPHAN DRUG ACT IN 1983 DOES NOT

ALTER U.S. STATUTORY STANDARD

FOR DRUG APPROVAL, WE'RE OFTEN

ASKED BY SPONSORS ISN'T THERE A

SPECIAL PATHWAY, A SPECIAL SAID

OF LAWS FORLICENSING DRUGS,

THERE'S NOT.

THE REASON IS IT'S NOT

NECESSARY.

WE DON'T NEED SPECIAL STANDARDS

FOR ORPHAN DRUGS BECAUSE THE

REGULATIONS PROVIDE FOR

FLEXIBILITY AND JUDGMENT IN

APPLYING STANDARDS IN PLACE.

AND BY LAW, FDA IS REQUIRED TO

EXERCISE SCIENTIFIC JUDGMENT TO

DETERMINE A KIND AND

QUANTITATIVE DATA AND

INFORMATION AN APPLICANT IS

REQUIRED TO PROVIDE FOR A

PARTICULAR DRUG TO MEET THE

STATUTORY STANDARDS.

SO WE HAVE THE AUTHORITIES TO

LOOK AT EACH APPLICATION, CASE

BY CASE, AND APPLY STANDARDS.

WE ACTUALLY DO THIS, THIS SLIDE

SHOWS DATA SAYING WE DO

PARTICIPATE AND USE A FLEXIBLE

PROGRAMS, APPROVALLED FOR CDER

OVER A 9-YEAR PERIOD, FLEXIBLE

DEVELOPMENT PROGRAM SO RARE

APPROVALS IN THE CENTRAL COLUMN

THERE, ABOUT 80% OF THE TIME.

WHAT IS A FLEXIBLE DEVELOPMENT

PROGRAM?

HERE IT MEANS OTHER THAN TWO

ADEQUATE AND WELL-CONTROLLED

TRIALS OR THE USE OF A NOVEL

ENDPOINT.

RECENTLY ABOUT CLOSE TO 80% OF

THE RARE DISEASE APPROVALS

BENEFITED FROM THESE PARTICULAR

PARTICULAR FLEXIBLE APPROACHES.

TWO ADEQUATE AND WELL CONTROLS

TRIALS USED WITH LARGE

POPULATIONS OF PEOPLE AFFECTED

BY A PARTICULAR DISEASE.

THERE ARE EXPEDITED PROGRAMS FOR

SERIOUS OR LIVING DISEASE WITH

UNMET MEDICAL NEEDS, WE ISSUED

GUIDANCE IN MAY OF 2014, AND

DEALS WITH FOUR DIFFERENT AREAS

THAT I WON'T GO INTO IN GREAT

DEPTH BUT JUST TO GIVE YOU A

QUICK DEFINITION.

FAST TRACK IS GENERALLY BASED ON

PRE-CLINICAL WORK, AND SHOWS

THERE'S PROMISE FOR PARTICULAR

DISORDER, TREATMENT FOR

PARTICULAR DISORDER AND THIS

ALLOWS THE FIRM THAT GETS

DESIGNATED AS FAST TRACK TO HAVE

ADDITIONAL MEETINGS WITH THE

FOOD AND DRUG ADMINISTRATION AND

FILE DIFFERENT PARTS OF THEIR

MARKETING APPLICATION AT

DIFFERENT TIMES RATHER THAN ALL

AT ONCE.

BREAKTHROUGH DESIGNATION IS MUCH

YOU NEWER, 2012 UNDER FDASIA AND

CLINICAL DEVELOPMENTS SUGGEST

THERAPY MAY OFFER SUBSTANTIAL

BENEFITS TO THE DISEASE AFFECTED

POPULATION.

BREAKS IN THERAPY INVOLVE THE

ONGOING PARTICIPATION OF UPPER

MANAGEMENT, IN THE FOOD AND DRUG

ADMINISTRATION, MULTITUDE OF

MEETINGS AND SUPERVISION,

POWERFUL IN TERMS OF

ACCELERATING REVIEW PROCESS BY

ONE OR TWO MONTHS.

SIX MONTHS MARKETING

APPLICATIONS RATHER THAN

STANDARD TEN MONTHS, FOUR MONTHS

DON'T SOUND LIKE MUCH BUT FROM A

SPONSOR'S PERSPECTIVE HAS GREAT

VALUE AND THIS IS USED COMMONLY

IN RARE DISEASE DRUG

DEVELOPMENT.

ACCELERATED APPROVAL IS AN

EXPEDITED PROGRAM, ALTERNATE

PATHWAY TO APPROVAL.

WE HAVE OUR STANDARD, FULL

APPROVAL METHODS, AND THEN

ACCELERATED APPROVAL IS DONE

WHEN THE APPROVAL IS BASED ON A

SURROGATE OR INTERMEDIATE

CLINICAL ENDPOINT RATHER THAN

FULL DEVELOPMENTAL PROGRAM.

HOWEVER, THE SPONSOR IS REQUIRED

TO PERFORM A POST MARKETING

STUDY THAT CONFIRMS BENEFIT OF A

LICENSED THERAPEUTIC.

AND YOU CAN SEE OUR USE OF THESE

ON THE NEXT SLIDE.

AGAIN, THIS IS LOOKING, NEW

MOLECULAR FROM 2008-2016, ONE

OUT OF FIVE BREAKTHROUGH

THERAPY, 3/4 GOT PRIORITY

REVIEW, ONE OUT OF 4 GOT

ACCELERATED APPROVAL.

AND THIS STANDS IN MARKED 

CONTRAST TO THE RIGHT, BETWEEN

TWO AND TEN-FOLD MORE COMMONLY

EMPLOYED EXPEDITED PROGRAMS FOR

RARE DISEASE FOR DEVELOPMENT.

THIS IS A CHART OF A RECENT

ORPHAN DRUG APPROVAL AT THE

CENTER FOR DRUG EVALUATION, AND

RESEARCH, SHOWS FOR YEARS ACROSS

THE BOTTOM, 2014, 2015, 2016,

THE BLUE BAR SHOWS TOTAL NUMBER

OF APPROVALS, AND RED IN MIDDLE

SHOWS ORPHANS AND HATCHED IN THE

UNITED STATES.

GO BACK 20 YEARS, FIRST LICENSED

IN THE UNITED STATES WAS THE

ODDITY, EXTREMELY RARE, NEVER

HAPPENED.

OVER THE LAST 20-ODD YEARS WE'VE

MOVED TO MAKE THIS THE NEW

REALITY, WE'VE LICENSED FIRST IN

THE UNITED STATES.

AND IF YOU LOOK AT THE YEARS YOU

CAN SEE IN 2014 ABOUT 20%%

APPROVAL FOR ORPHANS AND LAST

YEAR 41%.

TOTAL NUMBER WAS DOWN SOMEWHAT

IN CALENDAR YEAR 2016, WE

LICENSED FIVE AGENTS THAT HAD

ACTION DATES IN 2016, WE

LICENSED FIVE OF THEM EARLY IN

2015, WHICH MEANT THEY WERE IN

THE MARKETPLACE SOONER

BENEFITING PATIENTS AND FAMILIES

AND HAD SEVERAL HELD UP, NOT FOR

THE ACTUAL CLINICAL TRIALS BUT

BECAUSE OF MANUFACTURING ISSUES,

AND THESE WILL COME BACK INTO

THE SYSTEM PROBABLY IN 2017 AND

BE APPROVED AT THAT TIME.

CAN YOU PREDICT THE FUTURE ABOUT

RARE DISEASE DRUG DEVELOPMENT?

I OFFER THIS AS EVIDENCE THAT WE

CAN.

AND THAT IT LOOKS LIKE A BOOMING

BUSINESS.

THIS IS DATA FROM THE OFFICE OF

ORPHAN PRODUCTS DEVELOPMENT, THE

BLUE LINE SHOWS THE NUMBER OF

ORPHAN DESIGNATION APPLICATIONS

THAT WERE SUBMITTED, AND RED

LINE SHOWS THE NUMBER OF ORPHAN

DESIGNATION APPLICATIONS THAT

WERE DESIGNATED AS ORPHAN

DISEASES TO GET BENEFITS OF

ORPHAN DESIGNATION BY THE OFFICE

OF ORPHAN PRODUCTS DEVELOPMENT

AND BROKE UP BY ARROWS INTO

THREE SEGMENTS.

IN THE FIRST SEGMENT YOU CAN SEE

BETWEEN THE YEAR OF LICENSURE OF

ORPHAN DRUG ACT IN 83 UNTIL 2001

THERE WERE 60 DESIGNATED HER

YEAR, IN A SECOND SEGMENT

DOUBLED TO 120 PER YEAR AND

SINCE 2009 TO PRESENT TIME WE'RE

AVERAGING ABOUT 250 DESIGNATED

PER YEAR, WHICH MEANS WE HAVE

THOUSANDS, THOUSANDS OF

POTENTIAL ORPHAN DRUGS THAT ARE

IN THE PIPE, COMING OUR WAY FOR

REVIEW FOR REGULATORY REVIEW AND

ULTIMATELY BENEFIT PATIENTS AND

FAMILIES.

I THINK THIS IS A WILDLY

EXPANDING BUSINESS.

TO HELP SPONSORS OF RARE DISEASE

DRUG DEVELOPMENT IN THE SUMMER

OF 2015 WE ISSUED DRAFT GUIDANCE

CALLED COMMON ISSUES IN DRUG

DEVELOPMENT, TO HELP SPONSORS OF

DRUG AND BIOLOGIC PRODUCTS

INTENDED TO TREAT OR PREVENT

RARE DISEASES, CONDUCT MORE

EFFICIENT AND SUCCESSFUL

DEVELOPMENT PROGRAMS AND COVER

TOPICS INCLUDING NATURAL
HISTORY%

TO MANUFACTURING ISSUES AND I

WOULD REFER YOU TO THIS IF

YOU'RE INTERESTED IN GETTING

INTO THE RARE DISEASE BUSINESS.

THIS WAS ISSUED AS DRAFT WHICH

MEANS SOME DAY WE'LL ISSUE A

FINAL GUIDANCE, THOSE WHO

UNDERSTAND THE GUIDANCE PROCESS

KNOW IT'S NOT RAPID.

OKAY.

TWO MORE COMMENTS, WE DEVELOPED

AN EMA FDA RARE DISEASE CLUSTER

AND HAD OUR FIRST MEETING IN

SEPTEMBER OF 2016, THIS IS

MULTIPLE YEARS IN DEVELOPMENT,

AND IT WAS BASED ON THE

FOLLOWING TENETS.

THERE'S BEEN GROWING GLOBAL

INTEREST IN RARE DISEASE DRUG

DEVELOPMENT FROM PATIENTS AND

FAMILIES, NON-PROFIT PATIENT

ADVOCACY STAKEHOLDER

ORGANIZATIONS, DRUG DEVELOPERS

AND REGULATORY AUTHORITIES.

WITH GLOBAL DRUG DEVELOPMENT

PROGRAMS, ENHANCED INTERACTIONS

BETWEEN THE FOOD AND DRUG

ADMINISTRATION AND THE EUROPEAN

MEDICINE AGENCY COULD PROVIDE

IMPORTANT OPPORTUNITIES FOR

SCIENTIFIC EXCHANGE AND

HARMONIZATION, WE'VE HAD

TELEPHONIC ISSUES DEALING WITH

ENDPOINTS TO POST MARKETING

SAFETY SO THIS HAS ALREADY BEGUN

TO PAY DIVIDEND, EACH TWO LARGE

REGULATORY AGENCIES INTERACT WE

GET MORE ISSUES IRONED OUT

FASTER.

AND JUST TO CONCLUDE, THE

21st CENTURY SECURES ACT IS

ABOUT A THOUSAND PATIENCE LONG,

POP 

PUBLIC LAW 114-225, READ ALL OF

IT.

A PIECE ABOUT PATIENT FOCUS IS A

PRIORITY, RECOGNIZING THE UNIQUE

POTION OF PATIENTS TO PROVIDE

IS LIKE TO LIVE WITH AND FIGHTT-

THEIR DISEASE.

THIS HAS BEEN FDA'S PERSPECTIVE

AS WELL AND IT'S WHY FDA HAS

CONTINUED TO ADVANCE SCIENCE OF

PATIENT INPUT THROUGH PATIENT

FOCUSED DRUG DEVELOPMENT

PROGRAMS.

THE CURES ACT WILL ENHANCE

EFFORTS TOBETTER INCORPORATE THE

PATIENT'S VOICE AND FDA IS

COMMITTED AS WE MOVE FORWARD

DOING ITS REGULATORY WORK.

SO THANK YOU FOR YOUR ATTENTION.

[APPLAUSE]

YOU CAN SEND ME TEXTS OR

E-MAILS.

OUR FIRST SPEAKER THIS AFTERNOON

IS MAX BRONSTEIN, HE IS FROM THE

EVERYLIFE FOUNDATION.

HE WILL TALK ABOUT ALL OF THE

GREAT THINGS THEY'RE DOING FOR

THE IMMUNITY.

MAX.

-- COMMUNITY.

[APPLAUSE]

>> HI, THERE.

CAN EVERYONE HEAR ME OKAY?

NO.

WE'RE GOING TO WORK ON THE

MICROPHONE, GIVE US A SECOND.

NOW?

CAN YOU GUYS HEAR ME?

HOW MANY OF YOU GUYS HAVE HEARD

OF THE EVERYLIFE FOUNDATION

BEFORE?

OKAY.

THIS IS GOOD NEWS.

MORE PEOPLE THAN RAISED THEIR

HANDS LAST YEAR.

GOOD SO SEE WE'RE GOING IN THE

RIGHT DIRECTION.

HOW MANY ARE HERE FROM OUT OF

TOWN, TRAVELED TO D.C. FOR BEING

HERE?

EXCELLENT.

THANK YOU FOR BEING HERE.

I APPRECIATE EVERYONE WHO HAS

COME TO DC TO SHEAR SHARE

STORIES.

THIS IS AN INCREDIBLY IMPORTANT

TIME TO BE IN D.C. AND ENGAGING

IN THE POLICY CONVERSATION HERE.

SO WHAT I'M GOING TO DO IN THE

NEXT 15 MINUTES IS TELL YOU A

LITTLE BIT ABOUT MY

ORGANIZATION, THE EVERYLIFE

FOUNDATION FOR RARE DISEASES, I

WILL TELL YOU ABOUT SOME OF THE

INITIATIVES WE HAVE GOING ON AT

THE STATE AND FEDERAL LEVELS AND

GIVE YOU GUYS A SENSE FOR HOW

YOU CAN GET ENGAGED AND GET

INVOLVED WITH US.

SO FOR THOSE WHO MIGHT NOT BE

FAMILIAR WITH OUR ORGANIZATION,

KIND OF OUR CORE BELIEF AT THE

FOUNDATION IS THAT EVERY PATIENT

HAS THE RIGHT TO TREATMENT.

THIS IS REGARDLESS OF HOW RARE

THEIR DISEASE ARE.

WE THINK THAT ALL OF THOSE

TREATMENTS SHOULD BE AS SAFE AND

AS EFFECTIVE AS WE CAN POSSIBLY

MAKE THEM.

AND AS PART OF THAT, WE ACTUALLY

THINK THAT THERE'S A LOT OF

SCIENCE OUT THERE THAT WE'RE

UNDERLEVERAGING SO WE CAN DO

MORE WITH THE SCIENCE WE HAVE

AND TALK A LITTLE BIT ABOUT HOW

WE ACTUALLY APPLY THAT IN OUR

ADVOCACY WORK.

SO WHAT WE ACTUALLY DO IS

ADVOCATE FOR POLICY CHANGES AND

REGULATORY CHANGES.

SO THIS IS WHAT WE DO, WE GO OUT

TO CAPITOL HILL, WE GO OUT TO

CONGRESS, WE GO TO THE FEDERAL

AGENCIES, WE WORK WITH THE WHITE

HOUSE AND WE REALLY TRY TO HELP

RARE DISEASE PATIENTS RAISE

THEIR VOICE WITH POLICY MAKERS.

THE WHICH WE DO THIS IS BY

PARTNERING WITH HUNDREDS OF RARE

DISEASE PATIENT ORGANIZATIONS,

ACROSS THE COUNTRY AND THEN WE

ALSO HAVE THE OPPORTUNITY TO

WORK WITH SOME OF THE LEADING

SCIENTIFIC AND POLICY EXPERTS

ACROSS THE COUNTRY.

YOU CAN SEE THIS IS OUR TEAM

FLOATING AT THE BOTTOM OF THE

SLIDE HERE.

SO I WANT TO TALK A LITTLE BIT

ABOUT WHAT'S GOING ON IN THE

POLITICAL ENVIRONMENT BECAUSE

WHEN YOU WORK ON POLICY ISSUES

YOU REALLY CAN'T TALK ABOUT THEM

WITHOUT EXPLORING WHAT'S GOING

ON IN THE WORLD OF POLITICS.

WE'RE ALL AWARE THAT WE JUST

WENT THROUGH A MAJOR CHANGE IN

GOVERNMENT IN THIS COUNTRY,

PEOPLE ARE VERY CONCERNED ABOUT

THE POLITICAL DIVIDE, THIS IS

GOING TO AFFECT EVERYTHING THAT

CONGRESS DOES AND THINKS ABOUT

FOR THE NEXT FOUR YEARS,

POTENTIALLY LONGER.

SIMULTANEOUSLY WE HAVE HAD

SCANDALS GOING ON IN THE

INDUSTRY WHERE WE HAVE HEARD

ABOUT PRESS SCANDALS AND PEOPLE

CONCERNED ABOUT THE PRICE OF

PRESCRIPTION DRUGS WHICH GETS

ECHOED IN THE MEDIA.

THEN WE HAVE THE OTHER DEBATE

GOING ON CALLED HEALTHCARE

REFORM.

SO THESE ARE REALLY THE ISSUES

THAT ARE DRIVING THE DAY RIGHT

NOW FOR PATIENTS AND EVERYTHING

THAT GETS DONE ON CAPITOL HILL

IN THE HEALTH SPHERE IS GOING TO

BE COLORED BY THESE ISSUES.

SO I WANT TO TALK A LITTLE BIT

ABOUT SOME OF THE SCIENTIFIC

OPPORTUNITIES THAT EXISTS IN THE

PATIENT NEED AND I WON'T GO INTO

STATISTICS HERE BECAUSE I FEEL

LIKE YOU GUYS KNOW THESE NUMBERS

BETTER THAN ANYBODY DOES.

THE ONE I DO WANT TO TOUCH ON,

IN GENERAL WE HAVE A HUGE LACK

OF TREATMENTS IN THE RARE

DISEASE SPACE GIVEN NUMBER OF

DISEASES THAT PATIENTS ARE

FACING.

SO -- AND THIS IS COMING AT A

TIME OF TREMENDOUS AND

UNPARALLELED SCIENTIFIC

OPPORTUNITY.

HERE I'M TRYING TO ILLUSTRATE

GENE EDITING WHICH I'M SURE

THAT'S NOT WHAT I LOOKS LIKE AT

THE MICROSCOPIC LEVEL BUT GIVES

YOU A LITTLE BIT OF AN IDEA OF

WHAT THE POTENTIAL IS FOR SOME

OF THESE TECHNOLOGIES AND

ESPECIALLY IN THE GENE THERAPY

SPACE AS WELL.

I DON'T HAVE TIME TO GO INTO ALL

OF THE EMERGING THERAPIES BUT

THIS IS WHAT'S AT STAKE HERE.

SO THE WAY PUBLIC POLICY COMES

INTO PLAY HERE IS THAT THE WAY

WE TEND TO LOOK AT IT IS GOOD

PUBLIC POLICY CAN EITHER

SUPERCHARGE RESEARCH AND

INNOVATION OR BE A HINDRANCE.

OUR MISSION AT EVERYLIFE IS TO

USE PUBLIC POLICY TO MAKE SURE

THAT THE POLICIES THAT WE'RE

MAKING IN THIS COUNTRY NOT ONLY

HELP PATIENTS BUT HELP THE

RESEARCH ENTERPRISE AND

ENCOURAGE DEVELOPMENT OF NEW

TREATMENTS.

I THINK THE BEST EXAMPLE OF THIS

WAS SOMETHING CALLED THE

21st CENTURY CURES ACT.

OUT OF CURIOSITY HOW MANY OF YOU

TOOK ACTION OR ADVOCATED ON

BEHALF OF 21st CENTURY

CURES?

TERRIFIC.

THANK YOU GUYS VERY MUCH FOR ALL

YOUR ADVOCACY.

YOU GUYS MADE THIS LAW POSSIBLE.

THIS WAS A HUGE MOMENT FOR THE

RARE DISEASE COMMUNITY.

YOU CAN SEE IN THE PICTURE WE

HAD MACK SHOW, A RARE DISEASE

PATIENT WITH NEWMAN SYNDROME,

WAS THERE EVERY STEP OF THE WAY

AS CONGRESS CONSIDERED THE BILL.

SO FOR QUITE A WHILE IN DC MAX

WAS THE MOST POWERFUL LOBBIEST

AND IN THE CITY AND YOU CAN SEE

HIM HERE WITH DR. COLLINS WHEN

THE BILL WAS SIGNED INTO LAW BY

PRESIDENT OBAMA LAST YEAR SO

THIS IS A GREAT EXAMPLE WHAT WE

CAN DO AS A COMMUNITY WHEN WE'RE

UNITE AND WORK TOGETHER ON

BEHALF OF PATIENTS.

SO I WANT TO SHIFT GEARS A

LITTLE BIT, THAT'S WHAT WE WERE

WORKING ON AT FEDERAL LEVEL LAST

YEAR BUT I WANT TO TALK ABOUT

WHAT WE'RE DOING AT THE STATE

LEVEL.

FOR THOSE WHO PERHAPSES ARE NEW

TO NEWBORN SCREENING, I KNOW YOU

PROBABLY CAN'T READ ALL THE

NUMBERS ON THIS MAP BUT THE TAKE

AWAY MESSAGE IS THAT WE HAVE A

VERY WIDE VARIATION IN TERMS OF

HOW STATES ARE SCREENED FOR

DISEASES.

SO AS A RESULT OF THAT, FOR A

LOT OF PATIENTS WHO HAVE RARE

DISEASES THEY'RE FALLING THROUGH

THE CRACKS OF THE NEWBORN

SCREENING SYSTEM IN THIS

COUNTRY.

AND THERE'S VERY SERIOUS

CONSEQUENCES TO THAT, WE'RE

TALKING ABOUT KIDS WHO OTHERWISE

WOULD BE ABLE TO OBTAIN

TREATMENT END UP WITH LIFETIME

OF DISABILITY OR DEATH IN SOME

CASES.

SO THIS IS A VERY QUICK EXAMPLE

OF WHEN YOU HAVE A PATIENT WHO

HAD THE BENEFIT OF EARLY

DIAGNOSIS, SAMUEL COMPARED TO A

PATIENT WHO IS DIAGNOSED LATER

IN LIFE.

THIS IS JUST ONE DISEASE AND ONE

EXAMPLE BUT THIS GIVES YOU AN

IDEA OF WHAT IS AT STAKE WITH

NEWBORN SCREENING.

WHEN WE LOOKED AT THIS ISSUE,

THIS IS A HUGE PROBLEM IN THE

UNITED STATES SO WE DECIDED TO

TAKE ACTION.

AND DEVELOPED A STRATEGY TO

EMPOWER STATES TO SCREEN FOR

ADDITIONAL DISEASES.

WE ENLISTED ALLIES IN THIS WORK

AND WE STARTED IN OUR HOME STATE

OF CALIFORNIA SINCE THAT'S WHERE

WE'RE BASED.

WE WORKEDDED WITH 120 PATIENT

ORGANIZATIONS TO WORK ON A PIECE

OF LEGISLATION THERE.

WE PARTNERED WITH DR. RICHARD

PENN, AMAZING CHAMPION FOR THE

LEGISLATION SO NOT ONLY IS HE

STATE SENATOR BUT PEDIATRICIAN

BY TRAINING.

CERTAINLY MADE HEADLINES WHEN

THE VACCINE DEBATES WERE GOING

ON WE BROUGHT PATIENT ADVOCATES

TO SACRAMENTO SO THEY CAN TALK

TO POLICY MAKESSERSK THAT TELL

THEIR STORIES AND LET THEM

UNDERSTAND HOW NEWBORN SCREENING

MADE A DIFFERENCE FOR THEM SO

WHEN THIS LEGISLATION WENT

THROUGH THE COMMITTEES TO GET

VOTED ON, IT PASSED THROUGH

EVERY COMMITTEE IN THE

CALIFORNIA STATE HOUSE

UNANIMOUSLY WHICH WAS A BIG

ACHIEVEMENT FOR US, ANY TIME YOU

PASS LEGISLATION, ESPECIALLY

LEGISLATION WITH A COST, THERE'S

POTENTIAL FOR HICCUPS ALONG THE

WAYS IS THE NICE WAY TO SAY IT,

VERY HAPPY TO REPORT THIS LAW

WAS SIGNED BY GOVERNOR BROWN IN

SEPTEMBER OF LAST YEAR.

WHAT THE IMPACT OF THIS WILL BE

IS IT REQUIRES THE STATE WHICH

HAS 550,000 LIVE BIRTHINGS PER

YEAR TO SCREEN FOR MPS 1 AND

POMPEII DISEASE.

AND THE OTHER COOL THING ABOUT

THIS, IN MY OPINION IS THAT IT

IS A LIVING LAW IN THE SENSE

THAT ANY TIME A DISEASE IS

RECOMMENDED AT THE FEDERAL LEVEL

BY A COMMITTEE OF PUBLIC HEALTH

EXPERTS, THEY THEN HAVE TO

SCREEN FOR THAT DISEASE AT THE

STATE LEVEL.

SO IT DOESN'T REQUIRE NEW

LEGISLATIONER TIME WE WANT TO

IMPROVE -- EDGESLATION EVERY

TIME WE WANT -- LEGISLATION

EVERY TIME.

SO MY FAVORITE PART IS WHAT THAT

MEANS IS ABOUT 20 BABIES PER

YEAR IN CALIFORNIA WILL THEN

HAVE THE BENEFIT OF BEING

SCREENED FOR THESE DISEASES AND

AS A RESULT WILL LIVE MUCH

LONGER AND MUCH HEALTHIER LIVES

SO VERY PROUD OF OUR WORK THERE.

FOR THOSE WHO ARE INTERESTED IN

NEWBORN SCREENING, OUR NEXT STOP

IS FLORIDA AND WE HAVE ALREADY

BEGUN WORK IN THE STATES.

SO FOR FOLKS WHO ARE INTERESTED

IN GETTING ENGAGED THERE YOU CAN

JOIN OUR COMMUNITY CONGRES

PROGRAM WHICH IS FREE FOR

PATIENT ORGANIZATIONS TO JOIN.

SO DEFINITELY NEED HELP THERE TO

MAKE THIS LAW POSSIBLE IN

FLORIDA AS WELL.

I WANT TO GO BACK FOR A MOMENT

TO FEDERAL LEVEL AND TALK ABOUT

SOMETHING I TOUCHED ON AT THE

OUTSET HERE.

THIS IS THIS HUGE CHALLENGE WE

FACE IN THE RARE DISEASE

COMMUNITY ABOUT THE LACK OF

TREATMENTS OR FOR SHORT

SOMETIMES WE CALL IT THE

INNOVATION GAP.

SO AS AN ORGANIZATION WE REALLY

WANT TO INCREASE THE NUMBER OF

THERAPIES THAT ARE AVAILABLE.

WHEN WE LOOK AT MECHANISMS THAT

DO THAT, WE REALIZE ONE OF THE

FASTEST MOST COST EFFICIENT WAYS

TO DO THIS IS ACTUALLY THROUGH

REPURPOSING.

THE CHALLENGE AROUND REPURPOSING

IS AGAIN BECAUSE WE'RE TALKING

RARE DISEASES AND RELATIVELY

SMALL PATIENT POPULATIONS,

THERE'S NOT A HUGE AMOUNT OF

INCENTIVES FOR COMPANIES TO GET

ENGAGED IN THIS SPACE.

SO WHAT THE CONCEPT WAS WAS TO

CREATE AN INCENTIVE FOR

COMPANIES TO REALLY TAKE

REPURPOSING TO THE NEXT LEVEL

AND REALLY MAKE IT SOMETHING

THAT WOULD BENEFIT RARE DISEASE

PATIENTS.

WHAT THAT AMOUNTED TO IS ALL

THIS WORK AROUND REPURPOSING

THAT'S BEEN DONE.

I THINK MANY OF YOU PROBABLY HAD

THE BENEFIT OF DRUGS THAT HAVE

BEEN USED OFF LABEL OR TAKEN OFF

LABEL.

THESE ARE TWO EXAMPLES OF THE

DIFFERENCE THAT REPURPOSE

THERAPIES CAN MAKE FOR PATIENTS.

HOW MANY READ THIS ARTICLE IN

THE NEW YORK TIMES THAT CAME OUT

LAST MONTH ABOUT DAVID

FAGANBAUM?

GREAT.

FOR THOSE WHO HAVEN'T READ IT I

ENCOURAGE YOU GOOGLE THIS STORY

BUT I CAN'T DO HIS FULL STORY

JUSTICE, HE'S A MEDICAL DOCTOR

RESEARCHING CASTLEMAN'S DISEASE

AND IS ALIVED TO BECAUSE OF A

REPURPOSE THERAPY THAT HE WAS

ABLE TO TAKE FOR THIS DISEASE.

SO HE'S WE'RE ONLY ABLE TO HEAR

ABOUT THE STORY BECAUSE OF

IMPACT OF A REPURPOSED DRUG.

AND I'M SURE MANY OF YOU HAD THE

OPPORTUNITY TO MEET KAYLA

MARTINEZ.

SHE CAME TO THE NIH WHEN SHE WAS

MUCH YOUNGER AND BUTTING DIESER

DIAGNOSED WITH A RARE DISEASE

CALLED NOMED P.

SHE BENEFITED AND STILL BENEFITS

TODAY FROM A REPURPOSE THERAPY

THAT MADE TREMENDOUS IMPACT ON

HER LIFE.

THE PICTURE BELOW IS WHEN WE

BROUGHT KAYLA TO CAPITOL HILL TO

TALK ABOUT HER EXPERIENCE AT NIH

AND WHY REPURPOSING WAS SO

IMPORTANT TO HER.

VERY HAPPY TO HAVE THE

OPPORTUNITY TO WORK WITH KAYLA.

ALL THIS IS SOMETHING THAT WE

HAVE COME TO CALL THE OPEN ACT,

THE LEGISLATION THAT WE HAVE

WORKING ON FOR A FEW YEARS AT

THE FOUNDATION.

SO AGAIN, THE GOAL IS TO

INCREASE THE NUMBER OF

TREATMENTS THAT ARE AVAILABLE.

BY DEPLOYING THIS INSEN TV WE

CAN CREATE THE LEVEL OF CLINICAL

EVIDENCE THAT WE NEED TO TAKE A

LOT OF THERAPIES THAT ARE OFF

LABEL AND MAKE THEM ON LABEL

TODAY.

THE REASON THERE'S A LOT OF

REASONS THIS IS IMPORTANT BUT

FOR MANY PATIENTS AS YOU KNOW,

REIMBURSEMENT CAN BE A STRUGGLE

SO WHEN THERAPIES ARE ON LABEL

IT TENDS TO BE EASIER TO GET

REIMBURSED FOR THOSE.

WHEN A COMPANY RUNS A TRIAL AND

SAY THEY FINE OUT THAT A -- FIND

OUT A DRUG THEY THOUGHT MIGHT

WORK FOR A RARE DISEASE DOESN'T

ACTUALLY WORK FOR THAT DISEASE,

THAT'S REALLY IMPORTANT

INFORMATION FOR PATIENTS AND FOR

HEALTHCARE PROVIDERS.

SO WE SEE THAT AS A HUGE

BENEFIT.

ON TOP OF THAT, A LOT OF THE

DRUGS THAT WE THINK COULD

BENEFIT FROM THIS INCENTIVE

WOULD BE DEVELOPED FOR MUCH MORE

COMMON DISEASES.

SO WHEN THEY THEN GET SWITCHED

OVER TO BE REPURPOSED FOR RARE

INDICATIONS OUR HOPE IS THAT

THEY WOULD BE PRICED

COMPETITIVELY WITH THE MAJOR

MARKET DISEASE SO MORE

AFFORDABLE THAN TYPICAL RARE

DISEASE THERAPIES.

IF I HAVE TO PUT IT IN A TWO

MINUTE ELEVATOR PITCH, OPEN

CONNECTION DOUBLES THE NUMBER OF

THERAPIES AVAILABLE TO RARE

DISEASE PATIENT AND BRING LOW

COST THERAPIES TO PATIENTS WHO

NEED THEM.

THAT'S THE MESSAGE WE WILL BE

TAKING TO CAPITOL HILL LATER

THIS WEEK.

THOSE WHO REPRESENT PATIENT

ORGANIZATIONS I WHOLLY ENCOURAGE

YOU TO SIGN ON IN SUPPORT OF THE

LEGISLATION.

WE HAVE 176 PATIENT ORGS SIGNED

ON NOW, VERY HAPPY MAX IS WITH

US AND HELPING LEAD THE CHARGE

AROUND OPEN SO AS WE GET THE

BILL INTRODUCED IN THE NEAR

FUTURE, YOU CAN STAY IN TOUCH

WITH ACTION ALERT, THESE ARE

ACTUAL WAYS TO CONTACT THE

LEGISLATION.

I ALSO WANT TO YOU CAN TAN'T A

RARE DISEASE WEEK ON CAPITOL

HILL.

I HAVE A FEMALING MANY ARE IN

TOWN FOR THIS A FEELING.

SO MANY ARE AT CAPACITY SO I

CAN'T INVITE YOU TO ALL OF THEM

ANY MORE BUT WHAT I CAN DO IS E

COURAGE YOU TO SIGN UP FOR NEXT

YEAR, WE'RE EXCITED TO HAVE OVER

300 ADVOCATES REPRESENTING

ALMOST THE ENTIRE COUNTRY.

AND WE'RE LOOKING AT DOING AT

LEAST 220 MEETINGS ON THE HILL

ON WEDNESDAY SO VERY EXCITED

ABOUT THESE EVENTS AND IT IS A

REWARDING AMAZING EXPERIENCE TO

BE THERE WHEN MEMBERS OF

CONGRESS GET TO HEAR DIRECTLY

NOT ONLY FROM CONSTITUENTS BUT

ALSO FROM CONSTITUENT WHOSE HAVE

RARE DISEASE PATIENTS AND THE

PATIENTS CAN TELL MEMBERS OF

CONGRESS WHAT THEY CAN DO TO

MAKE A DIFFERENCE AND HELP

PATIENTS WITH RARE DISEASES.

WE HAVE AT THE END OF WEDNESDAY

WE WILL DO A RARE ARTIST

RECEPTION WHICH WE DO STILL HAVE

SOME SPACE FROM.

IF FOLKS AREN'T SIGNED UP FOR

THAT YOU'RE MORE THAN WELCOME TO

COME, YOU CAN SEE CONGRESSMAN

LANCE'S PICTURE, HE'LL BE

SPEAKING LATER TODAY.

ON THURSDAY WE HAVE SPACE FOR

THIS EVENT TOO SO IF YOU WANT TO

COME TO A BRIEFING ON CAPITOL

HILL WE PROVIDE LUNCH IN THE

SENATE HART OFFICE BUILDING SO

HOPE TO SEE YOU GUYS THERE.

YOU CAN GET REGISTERED AT

RAREADVOCATES.ORG.

I WANT TO WRAP UP AND TELL YOU

ABOUT SOME OF THE TOOLS THAT ARE

AVAILABLE TO PATIENT

ORGANIZATIONS WE RUN A PROGRAM

CALLED RARE DISEASE LEGISLATIVE

ADVOCATES.

DESIGNED TO BE A LEGISLATIVE

CLEARING HOUSE FOR STATE OR

FEDERAL POLICY ISSUES.

SO IF YOU GUYS HAVE ACTION

ALERTS THAT YOU WANT US TO HOST

YOU CAN EMAIL TO US AND WE WILL

PUT THEM ONLINE SO ALL YOU HAVE

TO DO IS SEND A LINK TO YOUR

NETWORKS AND THEN FOLKS CAN USE

THAT TO ACTUALLY CONTACT

CONGRESS ON YOUR BEHALF AND GET

IN TOUCH WITH THEIR MEMBERS.

EVERY MONTH WE DO A WEBINAR

WHERE ANYONE IS WELCOME TO SPEAK

TO RAISE A POLICY ISSUE.

SO DEFINITELY ENCOURAGE FOLKS TO

GET ON TO THOSE.

WE ALSO HAVE A COMMUNITY

CALENDAR, ANYONE CAN POST A

POLICY RELEVANT RARE DISEASE

EVENT.

THEN THE LAST THING WE DO IS

ONCE A MONTH WE SEND OUT A

POLICY NEWS LETTER THAT REALLY

KEEPS YOU GUYS UP TO THE MINUTE

ABOUT WHAT'S GOING ON IN D.C.

AND WHAT SOME OF THE

OPPORTUNITIES FOR ACTION ARE.

I DIDN'T ALREADY MENTION THIS,

THESE ARE ALL FREE TOOLS FOR

PATIENT ORGANIZATIONS.

SO DEFINITELY ENCOURAGE YOU GUYS

TO TAKE ADVANTAGE OF THEM.

SO WITH THAT, I WANT TO WRAP UP

AND I WANT TO SAY THANK YOU FOR

EVERYONE WHO TRAVELED TO D.C.

AND EVERYONE WHO HAS TAKEN TIME

OUT OF THEIR HECTIC LINES TO BE

HERE AND EDUCATE CONGRESS ABOUT

THE CHALLENGES FACING PATIENTS.

I DON'T KNOW IF WE HAVE TIME FOR

QUESTIONS AT ALL, NO TIME FOR

QUESTIONS I'M TOLD.

IF YOU HAVE QUESTIONS WE HAVE A

BOOTH IN THE MAIN ROOM, I WOULD

BE HAPPY TO CHAT WITH YOU GUYS

THERE OR FEEL FREE TO EMAIL ME

ANY TIME.

THANK YOU VERY MUCH.

[APPLAUSE]

>> I HEARD THIS WAS A GOOD DAY

BECAUSE AT THE BECOMING OF THE

DAY THEY SAID YOU GUYS CAN WEAR

JEANS.

HOW MANY PEOPLE ARE ACTUALLY

WEARING JEANS?

YEAH.

ALL RIGHT.

JEANS FOR JEANS.

SO I'M WENDY WHITE, CHAIR OF THE

GLOBAL JEANS, I'M A PARENT

ADVOCATE AND BUSINESS PERSON.

DID I GET THE WRONG ONE?

>> SO AS YOU HEARD ALREADY TODAY

RARE DISEASES, IT'S COMPLICATED.

THERE ARE INCREDIBLE

OPPORTUNITY, THERE'S ENORMOUS

CHANGE AND I THINK WHAT THAT

MEANS FOR ALL OF US IS THAT WE

ALL HAVE TO BE OPEN, WE HAVE TO

BE COLLABORATIVE AND THINK ABOUT

IT.

THE WAY WE AT GLOBAL GENES THINK

ABOUT IT IS WE NEED TO BE

FOCUSED.

THAT WHAT WE'RE DOING IN THIS

WHOLE CONTINUUM IS UNDER THE

UMBRELLA OF OUR ANYTHING TO

ELIMINATE THE CHALLENGES OF RARE

DISEASES GLOBALLY WE DEVELOP

RESOURCES AND TOOLS TO HELP

EQUIP PATIENT ADVOCATES TO

BECOME SUCCESSFUL ACTIVISTS FOR

THEIR DISEASE.

AND WE'RE WORKING TO BUILD A

GLOBAL CONNECTED NETWORK, A

PLATFORM FOR COLLABORATION AND

SUCCESS SO WE THINK ABOUT THAT

IS NOT FISHING FOR PEOPLE BUT

TEACHING PEOPLE HOW TO FISH.

WHEN SOMEONE OR IS DIAGNOSED

WITH A RARE DISEASE OR THEIR

CHILD IS DIAGNOSED WITH A RARE

DISEASE, THAT IS REALLY WHEN

THEY'RE PUT UP AGAINST THE WALL.

THEY WILL DO EVERYTHING WITH

THEIR TIME, TALENT AND TREASURE

TO FIGURE HOW TO DO A BETTER

JOB.

NOW, PEOPLE ARE GIVEN DIFFERENT

GIFTS AND THEY CAN DO DIFFERENT

THINGS.

NOT EVERYBODY IS LORI SEEMS AND

PUTS ON A MEDICAL CONFERENCE AN

GETS HER DRUG PARTNERD WITH THE

NIH BUT SHE IS DOING IT AND

THERE ARE OTHER EXAMPLES, PARENT

ADVOCATES RUNNING TECHNOLOGY

PLATFORMS.

THERE ARE SCIENTISTS WHO HAVE AS

YOU HEARD DAVID FAGANBAUM AND

PARENTS WHO ARE SCIENTISTS

THINKING DEEPLY WHAT THEY CAN DO

BASED ON THEIR KNOWLEDGE.

IT IS AN MAZING TIME.

-- AMAZING TIME.

WHAT CAN WE DO TO HARNESS THOSE

PEOPLE TO BE MORE EFFICIENT.

THIS IS PROBABLY A VERY

EFFICIENT INEFFICIENT TIME

BECAUSE EVERYBODY IS COMING WITH

IDEAS AND IT'S COMPLICATED.

SO THAT IS OUR GOAL, WHAT WE

THINK, WE ARE PLACE IS TO

SUPPORT AND BUILD THOSE RARE

DISEASE LEADERS.

HERE IS HOW WE LOOK AT IT.

WE LOOK AT IT AS THINKING ABOUT

WHERE SOMEONE MIGHT START AND

WHERE WE CAN TAKE THEM AND HOW

WE CAN COLLABORATE TO MOVE THEM

DOWN THE LINE BY SUPPORTING

THEM, EDUCATING AND CONNECTING

THEM WITH APPROPRIATE RESOURCES.

SO STARTING WITH POTENTIALLY

DIAGNOSES OR EVEN PRE-DIAGNOSIS

AND LIVING WITH THAT LIFE

ALTERING CONDITION CONSIDERING

WHETHER OR NOT THEY HAVE TO

START A NON-PROFIT WE HAVE A

TOOL KIT AROUND THAT BECAUSE WE

HOPE THAT NOT EVERYONE IS GOING

TO START A NON-PROFIT.

OUTREACH, COMMUNITY BUILDING,

PROVIDING SUPPORT AND BECOMING

RARE DISEASE EXPERTS THINKING

HOW THEY MIGHT HAVE TO STRETCH

IN TERMS OF UNDERSTANDING

BUSINESS SCIENCE POLICY AND

LEGISLATION THINKING ABOUT THE

ARCHITECT, WHAT THEY CAN DO TO

HELP MAKE THE SYSTEM WORK A

LITTLE BIT BETTER.

FINDING AND FUNDING RESEARCHERS

OR PARTNERING WITH BIOTECH OR IN

SOME CASES STARTING BIOTECH

COMPANIES.

AND WE THINK THERE ARE EVEN

EXAMPLES OF INVESTING THE

BIOTECH ENTREPRENEURS.

SO WHAT GLOBAL GENES DOES IS

LOOK AT WHAT ARE THE TOOLS WE

HAVE EACH STEP OF THE WAY TO

LEVERAGE WHAT WE'RE DOING BUT

MORE IMPORTANTLY HOW WE CONNECT

PEOPLE AND HOW WE COLLABORATE

WITH THE EXPERTS, PEOPLE WHO

KNOW HOW TO DO THESE THINGS.

SO WE HAVE A COLLABORATION WITH

SYMPTOMS WITHOUT NAME, WE DO

SCHOLARSHIPS AND GENOME

SEQUENCING THROUGH THE RARE

PATIENT IMPACT PROGRAM.

WE HAVE RARE EDUCATION TOOL KITS

AND WEBINARS.

BY THE WAY WE ARE OVER IN THE --

WE HAVE A BOOTH IN THE EXHIBIT

HALL, THERE ARE EXAMPLES OF ALL

THE TOOL KITS PUT TOGETHER

INCLUDING THINGS LIKE WHETHER OR

NOT TO START YOUR OWN 501C 3 OR

FIGURE HOW TO WORK IT WITH

SOMEONE ELSE.

WE HAVE RARE PATIENT SUMMIT WE

PUT ON EVERY YEAR THAT'S TWO OR

THREE DAY EVENT.

THIS YEAR IT'S

SEPTEMBER 14th, 15th AND

16th IN SOUTHERN CALIFORNIA.

WE ALSO ARE DOING REGIONAL

EVENTS THIS YEAR TO BRING THAT

OUT FOR PEOPLE WHO CAN'T MAKE IT

TO SOUTHERN CALIFORNIA.

WE ALSO HAVE A PROGRAM CALLED

RARE CONCIERGE WHERE WE WORK TO

-- IF SOMEBODY CALLS IN WE WORK

TO HOOK THEM UP WITH THE RIGHT

EXPERTS SO THEY KNOW WHERE TO GO

AND THEY CAN HAVE THAT PERSONAL

CONNECTION.

THEN THINKING STARTING A

NON-PROFIT OR COMMUNITY BUILDING

AND PROVIDING SUPPORT, WE HAVE

TOOL KITS SPECIFIC TO THAT, THE

RARE CONCIERGE AND RARE

FOUNDATION ALLIANCE WHERE

ORGANIZATIONS ONCE YOU HAVE GOT

AN ORGANIZATION TOGETHER YOU CAN

LOOK WHERE YOU ARE IN YOUR

EVOLUTION AS NON-PROFIT AND MEET

WITH OTHER ONES, AND THEN

POTENTIALLY MENTOR YOU, IF

YOU'RE AT A CERTAIN LEVEL WE CAN

MENTOR -- CONNECT YOU WITH

ANOTHER ORGANIZATION THAT MIGHT

BE FURTHER DOWN THE EXPERIENCE

PIPELINE SO NOT EVERYONE HAS TO

TO REINVENT THE WHEEL FOR 7,000

DIFFERENT DISEASES.

BY THE WAY, 85% OF THE 7,000

DIFFERENT DISEASES DON'T HAVE

ORGANIZED PATIENT GROUPS AND

EVEN WHEN THEY DO, I BET A LOT

OF YOU HAD THIS EXPERIENCE,

THERE'S TWO OR THREE OF THEM AND

THEY DON'T ALWAYS GET ALONG.

IT'S AN OPPORTUNITY.

BECAUSE WE ARE ALL IN THIS

TOGETHER.

FINALLY WE HAVE THE NEXT STEP I

GUESS IS BECOMING DISEASE

EXPERTS, THINKING ABOUT THAT

EDUCATION, BECOMING THE

ARCHITECTS.

WE HAVE LAUNCHED THIS LAST YEAR

IN PARTNERSHIP WITH A COMPANY IN

BOSTON, THEY DEVELOPED A

PLATFORM FOR US TO DO EDUCATION

AND THINGS LIKE EVEN WHAT KND

OF CLINICAL TRIALS AND WHAT DOES

THAT MEAN FOR YOU.

OF COURSE WE COLLABORATE WITH

RDLA WE ARE NOT EXPERTS IN

POLICY BUT THEY ARE.

SO IF SOMEBODY COMES IN AND ASKS

US WE DIRECT THEM OVER THERE.

AND THE SAME KINDS OF THINGS IN

TERMS OF PATIENT SUMMIT TOOL

KITS AND WEBINARS BUT AT

DIFFERENT LEVEL ARE DIRECTED

TOWARDS DIFFERENT AGENDA ITEM.

SO YOU GO TO PATIENT SUMMIT YOU

CAN FIGURE OUT WHICH TRACK OR

EDUCATION YOU MIGHT NEED OR

COLLABORATE WITH THE PEOPLE WHO

ARE IN THE SAME PLACE ADS YOU OR

A LITTLE BIT AHEAD.

FINALLY WE LAUNCHED THIS YEAR AT

J.P. MORGAN WHICH IS A INVESTOR

EVENT AT THE BEGINNING OF

JANUARY, CALLED RARE IN THE

SQUARE.

SO THAT EVENT IS HELD IN SAN

FRANCISCO AT THES WE TON AND WE

TOOK OVER THE SQUARE IN FRONT OF

IT TO RAISE THE LEVEL OF

AWARENESS ABOUT RARE DISEASE AND

THERE WERE -- IT WAS FANTASTIC.

GAVE AWAY UMBRELLAS.

IT RAINED.

THAT WAS A GOOD THING, NOT SURE

-- THERE WERE LOTS OF DEN

ANYMORE UMBRELLAS RUNNING

AROUND.

THE OTHER THING WE'RE DOING IS

AT THE SAME TIME WE'RE DOING THE

PATIENT SUMMIT THIS YEAR, WE'RE

GOING TO LAUNCH A RARE

PARTNERING EVENT FOR BIOTECHS

AND PEOPLE WHO ARE FOCUSED JUST

IN THE RARE SPACE.

SO A LITTLE BIT LIKE A SMALLER

VERSION OF J.P. MORGAN BUT IT'S

TO LIVE THAT MANTRA OF EVERYONE

HAS A SEAT AT THE TABLE AND

PEOPLE ARE BRINGING ALL THESE

DIFFERENT THINGS SO COULD BE --

NOT NECESSARILY JUST INVESTORS,

PITCHING OR COMPANIES PITCHING

TO INVESTOR, BUT IT COULD BE

CITIZEN SCIENTIST, WE HAVE AN

EXAMPLE OF BIOTECH PARTNERSHIPS

WITH PATIENT ORGANIZATIONS AND

FUNDRAISING.

WHAT'S EXCITING IS THINKING

ABOUT THESE NEW MODELS HOW WE

HAVE TO WORK TOGETHER OR HOW WE

CAN WORK TOGETHER TO MAKE A

DIFFERENCE IN OUR VERY EXCITING

BUT COMPLICATED SPACE.

SO THAT IS IT.

WE HAVE A COMMITMENT TO SERVE,

WE'RE FOCUSED FOCUSED IN TERMS

OF BUILDING PATIENT ADVOCACY

GROUPS AND HOW WE THINK ABOUT

THAT IS THROUGH THE WHOLE

LEVERAGING AND COLLABORATING AT

EACH STEP ALONG THE WAY.

SO ANY QUESTIONS?

>> CAN YOU HEAR ME?

GOOD AFTERNOON.

I'M JENNIE LUCCA, CEO AT

CHILDREN'S INN AT NIH.

IT IS AN HONOR TO BE HERE AMONG

LIKE MINDED PEOPLE WHO CARE SO

DEEPLY ABOUT RARE DISORDERS AND

RARE DISORDER RESEARCH AND THE

300 MILLION PEOPLE WORLDWIDE WHO

ARE AFFECTED BY RARE DISORDERS.

AS YOU HAVE HEARD TODAY, ABOUT

HALF OF ALL PEOPLE WITH A RARE

DIAGNOSIS ARE CHILDREN, THAT

COME FROM NATIONALITIES, AGES

AND BACKGROUNDS, FOR MANY

CHILDREN AND THEIR FAMILY IT IS

NIH REPRESENTS THEIR BEST HOPE

FOR HEELING AND ANSWERS.

THEY'RE YOUNG PEOPLE LIKE CRIST

PETTY WHO YOU WILL HEAR -- CHRIS

PETTY WHO YOU WILL HEAR FROM IN

A MINUTE WHO CAME TO THE NIH

SEEKING ANSWERS AFTER EXHAUSTING

ALL THE MEDICAL OPTIONS IN HIS

HOME STATE AND OTHERS IN HOME

COUNTRIES.

THE CHILDREN'S CENTER IS LOCATE

AID CROSS THE STREET FROM WHERE

WE ARE NOW AND WE OPENED OUR

DOORS IN 1990 TO HELP CHILDREN

AND FAMILIES ENJOY THEIR

CHILDHOOD AND ENJOY THEIR YOUTH.

WE GIVE THEM OPPORTUNITIES TO

SOCIALIZE AND HAVE FUN DESPITE

BOLD JOURNEY INTO UNKNOWN IN AN

EFFORT TO FIND RELIEF AND CHANGE

STORY FOR OTHER CHILDREN ALL

AROUND THE WORLD.

SINCE OPENING OUR DOORS WE

PROVIDED FREE LODGING AND

SUPPORTIVE SERVICES TO 13,000

CHILDREN AND FAMILIES THEY COME

FROM ALL 50 STATES AND 94

COUNTRIES.

HOUR EXCEPTIONAL TEAM OF STAFF

AND VOLUNTEERS STRIVE TO MAKE

EVERY FAMILY STAY AS FUN

COMFORTABLE AND EASY AS

POSSIBLE.

IT'S HARD TO DESCRIBE WHAT IT

MEANS TO CHILDREN IN THEIR

FAMILIES TO HAVE THE OPPORTUNITY

TO ENJOY THE MOMENT, ONE ANOTHER

AND COME TO A CARING SUPPORTIVE

ENVIRONMENT WHERE THEY CAN SPEND

TIME WITH OTHER CHILDREN AND

FAMILIES GOING THROUGH THE SAME

SITUATION.

I KNOW FOR MANY OF YOU OUT THERE

TODAY, YOU KNOW THE FEELING I'M

TRYING TO CONVEY.

WE'RE PROUD SINCE OPENING THE

CHILDREN'S INN FAMILIES HAVE

INCREASED PARTICIPATION IN

CLNICAL TRIALS AND WE'RE

CERTAINLY PROUD TO BE PARTNER TO

THE NIH AND DISCOVERY AND

RESEARCH.  WE ARE PROUD TO BE

THE PLACE, THIS IS WHERE THE

POWER OF CHILDHOOD TRULY MEETS

POWER OF RESEARCH.

IN JUST A MINUTE I WILL

INTRODUCE TO YOU CHRIS PETTY.

CHRIS PETTY IS A TRUE PIONEER IN

MEDICAL RESEARCH.

HE IS CURRENTLY A GRADUATE

STUDENT AT ARIZONA STATE

UNIVERSITY.

HE FIRST CAME TO THE CHILDREN'S

INN IN THE NIH IN 2010 AND SINCE

THEN STAYED NO FEWER THAN 33

TIMES.  HE HOLDS AN

UNDERGRADUATE DEGREE IN GEOLOGY

THANKS TO HIS DEEP INTEREST IN

MINERALS.

IF YOU KNOW CHRIS, I KNOW SOME

OF YOU HERE AT THE NIH DO, YOU

KNOW HE'S NOT AFRAID TO SPEAK UP

AND ADVOCATE FOR HIMSELF.

HE IS PASSIONATE ABOUT SCIENCE

AND FOR THOSE WHO ARE FOLLOW

SCIENTISTS YOU CAN RELATE TO HIS

DESIRE THE GET THINGS RIGHT.

HE TOLD US AS WE WERE PREPARING

FOR RARE DISEASE DAY TODAY THAT

HE LOVES THE MINERAL EXHIBIT AT

THE CLINICAL CENTER AND ON HIS

LAST VISIT HE SHARED WITH HIS

LIBRARIAN FRIENDS UP STAIRS THAT

A COUPLE OF MINERALS BEFORE

APPARENTLY INCORRECTLY LABELED.

AND HE ASSURED US THAT THEY ARE

ALL LABELED CORRECTLY NOW.

IT IS A PLEASURE TO INTRODUCE

CHRIS, WE'RE HONORED TODAY TO

HAVE HAVE HIM AS THE RARE

DISEASE SPEAKER.

I WOULD LIKE TO WELCOME HIM NOW.

>> THEY WOULDN'T LET ME OUT ON

THE BLUE PART.

MY NAME IS CHRIS PETTY.

I WANT TO START OFF, IF YOU HAVE

SEEN THE MOVIE FIGHT CLUB YOU

MAY BE FAMILIAR WITH ONE OF MY

FAVORITE QUOTE WHICH I'M

PARAPHRASING.

YOU ARE NOT YOUR KHAKIS, IT'S

KIND OF BECOME MY MOTTO.

I'M NOT MY ILLNESS, I DON'T LET

IT DEFINE ME AS WHO I AM.

AND YOU SHOULDN'T IF YOU'RE SICK

DON'T LET YOUR ILLNESS DEFINE

YOU.

GO OUT, DO SOMETHING AND LIVE

YOUR LIFE.

SO EVERYTHING STARTED TOWARD THE

END OF MY SENIOR YEAR OF HIGH

SCHOOL.

I WAS A RATHER PHYSICALLY FIT

PERSON, PLAYED SPORTS ALL

THROUGH SINCE I WAS A KID.

SOCCER, BASEBALL, EVERYTHING.

BUT IN APRIL 2009 MY DOCTOR

THOUGHT I HAD MONO WHEN I CAME

IN WITH A SORE THROAT AND

PRESCRIBED STEROIDS.

FOUR WEEKS LATER I STARTED

GETTING MY FIRST HEADACHES AND

THEY RAPIDLY GOT WORSE.

THEY WERE FOLLOWED BY NAUSEA,

VOMITING AND LIGHT SENSITIVITY.

AT TIMES THEY WERE SO PAINFUL

THAT I COULDN'T KEEP FOOD DOWN

AND PASSED OUT SEVERAL TIMES.

AN MRI SHOWED A QUARTER SIZE

MASS IN MY BRAIN AN SURGERY

REVEALED THAT IT WAS A CARDIA

BACTERIAL INFECTION.

NO CARDIA INFECTIONS AREN'T

COMMON BUT THEY ALSO AREN'T

RARE.

BUT THEY ARE EXCEEDINGLY RARE OR

UNKNOWN IN THE BRAIN OF A

NON-IMMUNODEFICIENT PERSON.

I ALSO LEARNED THAT THE STRAIN

OF BACTERIA THAT I HAD IS ONE OF

THE MOST RARE STRAINS OF

NOCARDIA.

MY DOCTORS WERE PUZZLED AD TIME,

THEY WERE CONVINCED I HAD TO

HAVE SOMETHING WRONG WITH MY

IMMUNE SYSTEM.

THEY TESTED ME FOR LUPUS, HIV,

MANY MORE.

BUT FOUND NOTHING.

AFTER MY BRAIN SURGERY, THE

DOCTORS PUT ME ON ANTIBIOTICS

AND STEROIDS.

I STARTED TO FEEL BETTER

EVENTUALLY.

THE MOMENT I WAS TAKEN OFF

STEROIDS ALL MY SYMPTOM CAME

BACK.

HEADACHES, NAUSEA, VOMITING,

EVERYTHING.

I LEARNED I WAS HIGHLY SENSITIVE

TO MY STEROIDS.

BY THAT FALL DOCTORS FINALLY

AFTER MONTHS AND MONTHS OF

WEANING GOT ME OFF MY STEROIDS.

DURING ALL THIS I STARTED

COLLEGE AND BY THE TIME FINALS

ROLLED AROUND I HAD FINISHED MY

SIX MONTHS OF ANTIBIOTIC.

AND ALMOST IMMEDIATELY AFTER

THAT, I STARTED TO GET HEADACHES

AGAIN.

I ATTRIBUTED THEM TO FINALS MORE

THAN ANYTHING.

I'M SORRY.

A LITTLE BIT MORE STRESSFUL WHEN

YOU ACTUALLY COME OUT HERE AND

DO THIS.

AFTER MY FINALS I WENT FOR

ANOTHER MRI AND THEY SHOWED

ANOTHER ABSCESS IN THE BRAIN

STEM.

AFTER MY SECOND BRAIN SURGERY,

MY DOCTORS IN ARIZONA WERE TOO

PUZZLED TO FIGURE THIS OUT IN I

MORE, THEY TOLD ME I NEEDED TO

SEARCH FOR SOMEBODY MORE

ACQUIRED TASTE FOR THIS TYPE OF

MEDICAL MYSTERY.

AFTER MANY PHONE CALLS, I

WOULDN'T UP TALKING TO NIAID.

NATIONAL INSTITUTE OF ALLERGY

AND INFECTIOUS DISEASE.

DR. STEVEN HOLE LAND AND CHRIS

DESERBE AT NIAID BECAME MY

PRIMARY DOCTORS.

AT THAT POINT THEY WERE MY ONLY

HOPE OF RECOVERY AND I

CONSIDERED MYSELF VERY LUCKY

THEY DECIDED TO KEEP AN EYE ON

ME.

THEIR DEDICATION TO PATIENTS

LIE ME AND ADVANCING MEDICAL

SCIENCE PERSONALLY MEANS A LOT

TO ME AS SCIENTIST.

BUT SPEAKS VOLUMES ABOUT THE

DEDICATION OF THE NIH TO THEIR

PATIENTS AND THE ACTUAL MEDICAL

RESEARCH THAT GOES ON.

I CONTINUED MEDICATION TO FIGHT

THE INFECTION AND I WAS STILL

NAUSEATED AND THROWING UP

REGULARLY.

I DROPPED TO 1010 POUNDS AND I

WAS -- 110 POUNDS AND I WAS

CONVINCED I WAS FEELING BAD

BECAUSE OF THE MEDICATION.

I HAD THE NICKNAME OF CHICKEN

LEGS IN COLLEGE.

IT WAS PRETTY BAD.

IT WAS AT THAT POINT THAT I MADE

A DECISION I CAME TO DEEPLY

REGRET AND RECOMMEND NOBODY ELSE

MAKE.

I STOPPED TAKING MEDICATION

BECAUSE I THOUGHT THAT WAS WHAT

WAS MAKING ME FEEL BAD.

DESPITE MY HEALTH ISSUES I

STAYED IN COLLEGE AS MUCH AS

POSSIBLE AND WHEN I STARTED TO

LOSE FEELING IN MY FEET, AN MRI

SHOWED LESIONS ON MY SPINE AND

THAT THE OUTER LAYER OF MY SPINE

WAS BEING DESTROYED.

I HAD MY FIRST SPINAL SURGERY TO

REMOVE LEAGUES AND SURGEONS

FOUND AREAS OF STICKY PUS WITH

NO INFECTION PRESENT.

DUE TO THE PROXIMITY TO MY NERVE

IT IS SURGEONS COULDN'T FULLY

REMOVE THE LESIONS.

AFTER THE SURGERY I TEMP RARELY

NEED AD WHEELCHAIR THEN

PROGRESSED TO A WALKER.

WITH MONTHS OF INPATIENT

TREATMENT AND THERAPY I WAS ABLE

TO GO HOME AND I STAYED ON

MEDICATION, TOOK SEVERAL YEARS

FOR ME TO BE ABLE THE WALK

AGAIN.

EVENTUALLY MOVE FROM WALKER TO

CANE AND FINALLY WALKED ON MY

OWN, I ENJOYED HIKES AGAIN, THAT

WAS FUN.

EVENTUALLY SEEMED STABLE AND

CAME OFF MY STEROIDS.

LIFE WAS BACK TO NORMAL IN

REGARDS TO MOBILITY AND I

GRADUATED MY BACHELORS DEGREE IN

GEOLOGY.

WITHIN A WEEK I STARTED MY

MASTERS IN EDUCATION AND THEN

SUDDENLY THE BACK PAIN STARTED

TO CAME BACK.

ACCOMPANIED BY WEAKNESS IN MY

LEGS, BACK TO THE CANE TO WALK.

AND I WAS PUT ON

ANTI-INFLAMMATORY MEDICATION TO

TRY AND STOP INFLAMMATION.

AN MRI SHOWED A NEW LESION ON

UPPER SPINE AND ANOTHER SPINAL

SURGERY FOLLOWED AND SHOWED THE

SAME AS THE FIRST.

THERE WAS INFLAMMATION WITHOUT

ANY INFECTION.

WHILE I STARTED WITH A RARE

INFECTIOUS DISEASE THAT CAUSED

RARE SYMPTOMS MY DOCTORS CAN NO

LONGER FIND ANY TRACE OF THE NO

CARDIA IN ANY SYSTEM.

MY INFECTION ESSENTIALLY MORPHED

INTO A NEW MYSTERIOUS ILLNESS

AND DOCTORS BELIEVE IT WAS AN

AUTOIMMUNE RESPONSE TO INITIAL

BACTERIAL INFECTION.

WE TRIED SEVERAL MEDICATIONS TO

KEEP THE SPINE INFLAMMATION AT

BAY BUT NOTHING HAS HELPED.

AFTER MY SECOND SPINAL SURGERY,

I LAD TO START USING A

WHEELCHAIR INDEFINITELY.

I BELIEVE IN SCIENCE AND MY

DOCTORS.

AND WE CONTINUE TO LOOK FOR

MEDICATION TO STOP THE

INFLAMMATION.

SINCE MY FIRST HEADACHES EIGHT

YEARS AGO MY LIFE CHANGED

DRAMATICALLY.

REPEATED ILLNESS AND LOSING MY

ABILITY THE WALK WITH NO CLEAR

PATH TO RECOVERY AND NO WAY TO

KNOW HOW MY HEALTH IS GOING TO

TAKE -- TWIST AND TURNS AS I GO

THROUGH LIFE.

IT CAN BE TOUGH TO DEAL WITH.

ALONG MY ROCKY PATH OF LOOKING

FOR ANSWERS, I FOUND SEVERAL

SOURCES OF STRENGTH AND

INSPIRATION I WANT TO SHARE WITH

YOU.

I HAD TO THROW THE GEOLOGY PUN

IN THERE.

NUMBER ONE, I'M VERY GRATEFUL TO

THE CLINICAL CENTER LIBRARY AND

LBRARIANS MARIE AND MARTHA.

WHEN I WAS INPATIENT FOR SIX

MONTHS, I BENT TO THE -- WENT TO

THE LIBRARY ONCE OR TWICE A WEEK

AND BOOKS ALLOWED ME TO ESCAPE

MY OWN REALITY.

I WAS HOOKED ON THE SERIES AN

WAITING FOR THE FINAL BOOK.

THE NIH LIBRARIANS ORDERED THE

BOOK FROM AMAZON UK BECAUSE IT

WASN'T OUT YET IN THE US.  THE

VERSION CAME AND THEY SURPRISED

ME WITH THE BOOK AND JUST LIKE

THESE -- GESTURES LIKE THESE

MEAN THE WORLD WHEN YOU'RE ALONE

IN A HOSPITAL AND CAN'T DO MUCH.

NUMBER TWO, GOOD FOOD.

ANOTHER CLINICAL CENTER IS GREAT

AND IT IS A GREAT HOSPITAL.

BUT THE FOOD.

AFTER WEEKS OF ORDERING THE SAME

THING YOU GET SICK.

SO THE FOOD AND ESPECIALLY THE

FAMILY DINNERS AN OUTINGS

ORGANIZED BY THE CHILDREN'S INN

SAVED ME MY SANITY AND HELPED ME

FROM GOING BROKE FROM ORDERING

TAKE OUT.

NUMBER THREE, ACTIVITIES.

THE ACTIVITIES AT THE CHILDREN'S

INN BROUGHT VARIETY AND JOY TO

MY HOSPITALIZED LIFE.

I PLAYED BASEBALL THROUGHOUT MY

CHILDHOOD AND HIGH SCHOOL AND

THROUGH THE FIRST PITCH -- IN

THROWING THE FIRST PITCH AT

PROFESSIONAL BASEBALL GAME HAS

BEEN ON MY BUCKET LIST SINCE I

WAS A KID.

WHEN I HEARD THE CHILDREN'S INN

WA LOOKING FOR A RESIDENT TO

THROW THE FIRST PITCH T A

NATIONAL WASHINGTON NATIONALS

GAME, I IMMEDIATELY VOLUNTEERED.

I COULD TELL BY THE LOOK FROM ME

AND MY WALKER THAT THEY DIDN'T

THINK I WOULD BE ABLE TO DO IT.

BUT THE DAY CAME AND THEY ASKED

IF I STILL WANTED TO AND I SAID

YEAH.

YEAH I DO.

SO WE WENT TO THE FIELD, ME AND

MY FATHER, AND THE NATIONALS

SAID YOU CAN'T TAKE YOUR WALKER

ON THE FEEL.

HOW DO YOU EXPECT ME TO GET OUT

THERE?

YOU'RE GOING TO HAVE TO FIGURE

IT OUT SO ME AND MY DAD HOBBLED

UP THERE AND THEY TOLD ME TO

THROW IT FROM THE FOOT OF THE

MOUND.

YEAH I'M NOT DOING THAT.

WENT TO THE RUBBER, TOWED THE

RUBBER AND THROUGH THE FIRST

PITCH AND IN MY OPINION IT'S

BETTER THAN MOST OF THE

PRESIDENT'S FIRST PITCH.

[APPLAUSE]

NUMBER 4, FAMILY AND FRIENDS.

HAVING MY FAMILY SUPPORT ME

THROUGHOUT MY ILLNESS IS A

SOURCE OF STRENGTH I DRAW FROM.

MY FATHER --

[APPLAUSE]

>> MY FATHER SPENT AN ENTIRE

SUMMER WITH ME WHEN I STOPPED.

MY FATHER SPENT AN ENTIRE SUMMER

WITH ME WHEN I FIRST CAME TO THE

NIH.

I HAVE AN AUNT, UNCLE AND COUSIN

IN MARYLAND WHO MAKE TIME TO

VISIT ME.

I'M GOING TO SKIP THIS PART.

MY AUNT AND COUSIN ARE IN THE

AUDIENCE TODAY.  SO IS ONE OF MY

BEST FRIENDS.

LET'S GET BACK TO THE HUMOR

SIDE.

NUMBER FIVE.

THERE ARE TIMES THAT I GO OUT

AND MY NURSES LET ME GET AWAY

WITH BENDING THE YOU WILL

RADIOS.

WHETHER IT'S GOING OUT WITHOUT A

FORMAL PASS DOWN TO THE END OR

DINNER, OR WHEN I ORDERED SIX

GATORADES TO STAY HYDRATED WHEN

I WENT TO SEE THE FINAL HARRY

POTTER MOVIE.

MY NURSES POLITELY TOLD ME YOU

CAN'T ORDER THAT MANY, BUT

EVENTUALLY THEY LET ME DO IT AND

DRANK THEM ALL BECAUSE AS YOU

KNOW, BETHESDA SUMMER HUMIDITY

CAN BE QUITE STRUGGLING.

WHEN YOU'RE ROLLING UP A HILL IN

A WHEELCHAIR IT'S EVEN WORSE.

NUMBER 6.

HUMOR.

I HAVE ALWAYS BEEN A HAPPY GO

LUCKY PERSON AND STAYED THAT WAY

THROUGHOUT MOST OF MY ILLNESS.

I LOVE IT WHEN MY FAMILY AND I

CAN JOKE ABOUT MY ILLNESS OR

WHEN MY STUDENTS MAKE A JOKE

ABOUT ME BEING IN A WHEELCHAIR.

SAME WAY THEY JOKE WITH ANYBODY

ELSE.

I KNOW SOME PEOPLE WOULDN'T FIND

IT FUNNY AND MIGHT BE OFFENDED

BUT TO ME, HUMOR NORMALIZES MY

ILLNESS.

IT MAKES ME FEEL LIKE I'M JUST

LIKE ANYONE ELSE.

MY FAVORITE ONE OF MY STUDENTS

ONCE SAID MR. PETTY, YOU'RE A

REAL STAND UP COMIC.

JUST LIKE YOU MADE ME LAUGH OUT

LOUD.

NUMBER 7, KINDNESS AND PEOPLE

WHO CARE.

ONE TIME WHEN I WAS AT THE INN

THERE WAS A FAMILY DINNER GOING

ON.

THIS GIRL, A YOUNG WOMAN I

SHOULD SAY, WAS HAVING HER SWEET

16 BIRTHDAY PARTY AT THE END.

RATHER THAN GIFTS AND PRESENTS

FROM OTHER PEOPLE SHE ASKED FOR

THAT MONEY THAT THEY WOULD HAVE

SPENT TO BE DONATED TO THE INN.

THEY HAD A FAMILY DINNER ALONG

WITH IT.

T ME, SOMETHING LIKE THAT IS

DEEP IMPRESSION ON ME.

NUMBER 8.

POSITIVE ATTITUDE AND HOPE.

KNOWING THERE ARE SO MANY OTHER

CHILDREN AND YOUNG ADULT WHOSE

HAVE TOUGHER DIAGNOSIS THAN I DO

AND STILL FAY ARE FULL OF JOY,

HOPE AND GREAT ATTITUDE DESPITE

THEIR ILLNESS.

ANY TIME I THINK OF THESE KIDS I

REALIZE I CAN KEEP GOING TOO.

NUMBER NINE.

A STRONG SUPPORT SYSTEM.

AISHA, RYAN AND THE MANY OTHER

CHILDREN AND STAFF AND

VOLUNTEERS ARE ALWAYS THERE FOR

YOU.

IF YOU NEED SOMETHING, THEY WILL

EITHER HAVE IT FOR YOU OR THEY

WILL GET IT FOR YOU.

THEY STRIVE TO PROVIDE A PLACE

LIKE HOME WHICH IS THEIR MOTTO.

AND THEY DO A FANTASTIC JOB OF

THAT.

I CONSIDER THE INN STAFF MY

EXTENDED FAMILY.

MY MOM DONATES TO THE INN

THROUGH THE COMBINED FEDERAL

CAMPAIGN.

AND ONCE I'M EARNING A PAYCHECK

AND CAN GIVE BACK, THE

CHILDREN'S INN IS THE PLACE I

WANT TO SUPPORT.

NUMBER 10, BEING GRATEFUL.

MY HEART IS FULL OF GRATITUDE

AND I APPRECIATE ALL THE MEDICAL

SCIENCE THAT NIH DOES AND I MORE

THAN APPRECIATE THE CHILDREN'S

INN.

THERE'S PLACES SO IMPORTANT TO

FINDING CURES AND TREATMENTS AND

I DON'T KNOW WHERE WE WOULD BE

MEDICALLY WITHOUT IT.

I WOULD LIKE TO THANK THE

CHILDREN'S INN FOR ALL YOU DO

FOR ME AND THE 1500 CHILDREN AND

FAMILIES YOU SERVE EVERY YEAR.

I NEED TO THANK DR. HOLLAND,

DR. ZERBY, SAMANTHA AND ALL THE

OTHER DOCTORS AND NURSING STAFF

AND THERAPISTS FOR ALL YOU DO

FOR ME AND THE MANY OTHER NIAID

PATIENTS THAT YOU SUPPORT.

I ALSO WANT TO SAY A SPECIAL

THANKS TO LILY AND THE OTHER

SHUTTLE DRIVERS AS WELL.

THEY HAVE TO GET OUT OF THE

SHUTTLE AND HELP ME GET INTO IT

EVERY TIME NOW.

IT MAKES A LIFE LOTS EASIER WHEN

YOU HAVE DIFFERENT PEOPLE

SUPPORTING YOU.

FINALLY, I WOULD LIKE TO THANKS

ALL MY FAMILY AND FRIENDS THAT

ARE WATCHING THIS BACK AT HOME.

THANKS TO ALL OF YOU HERE TODAY

FOR HEARING ME OUT ON RARE

DISEASE DAY.

THANK YOU VERY MUCH.

[APPLAUSE]

>> OUR NEXT SPEAKER HAS BEEN A

GREAT FRIEND TO NCATS, SHE'S

BEEN A ADVISORY COUNCIL MEMBER

ALONG STANDING, SHE CYCLED OFF

SO SHE MAY LOOK A LITTLE MORE

RELAXED AT THIS POINT.

BUT SHE'S ALSO EXECUTIVE

DIRECTOR OF FASTERCURES AND THIS

HAS BEEN A GREAT ORGANIZATION

FOR WORKING TO MOVE THINGS ALONG

IN THE DEVELOPMENTAL PIPELINE.

SHE WILL TALK ABOUT THE WORK

THAT HER ORGANIZATION IS DOING.

MARGARET.

[APPLAUSE]

>> THANK YOU.

THANK YOU, EVERYBODY.

IT WAS A REAL PLEASURE TO HEAR

CHRIS TELL HIS STORY.

I APPRECIATE ALL OF YOU IN THE

STORIES THAT YOU HAVE.

I'M HERE TO TALK TO YOU ABOUT A

STORY OF AN ORGANIZATION CALLED

FASTERCURES WHICH I HEAD.

WE WERE CREATED OVER 13 YEARS

AGO, WE CALL OURSELVES AN ACTION

TANK.

SOUR JOB IS TO LOOK ACROSS THE

BIOMEDICAL RESEARCH SYSTEM AND

TRY TO UNDERSTAND HOW DO YOU

MAKE IT GO MORE QUICKLY.

AND MORE EFFICIENTLY.

SO THIS IS A SLIDE AS I WAS

PULLING TOGETHER MY THOUGHTS FOR

THIS TALK, I FOUND THIS SLIDE WE

HAVE BEEN USING FOR A NUMBER OF

YEARS, AND IT'S A LITTLE HARD TO

FIGURE OUT WHEN WE HAVE

SUCCEEDED IN SHRINKING THE TIME

LINE ON ALL OF THIS.

I WANT TO REPORT EACH OF YOU

NEED TO BECOME SOLDIERS TO DOING

THIS AND IF WE'RE SUCCESSFUL IN

CHANGING THIS SLIDE AND ACTUALLY

MAKING THINGS GO MORE QUICKLY,

THE TIDE LIFTS ALL BOATS, WE ALL

BENEFIT FROM THAT.

I WANT TO DEFINITELY POINT OUT

THAT NO MATTER WHAT STAGE OF

DEVELOPMENT YOU ARE IN, WHETHER

HERE REPRESENTING AN

ORGANIZATION OR A PARENT TRYING

TO FIGURE OUT WHERE TO GO,

THERE'S A MULTITUDE OF GROUPS I

SEE SHARON TERRY WHO WILL SPEAK

IN A BUILT FROM ALLIANCE, ALL

THE GROUPS THAT HAVE SPOKEN MUCH

OF OUR EXPRESS TURN IS TO HELP

YOU WITH RESOURCES AN LESSONS

LEARNED.

THAT'S THE JOURNEY WE HAVE HAD

AT FASTERCURES.

THIS IS ANOTHER SLIDE I WANT TO

SHOW WE IS A SLIDE OF SILOS.

IN THE RESEARCH SYSTEM IN THE

PARADIGM WE'RE WORKING IN

TRADITIONALLY WE'RE IN THE

SILOS.

AND JOURNEY IS PROBABLY NEVER

GOING TO BE OVER.

BUT I AM DEFINITELY PLEASED TO

REPORT THAT WE ARE DOING MUCH

BETTER AT GETTING PEOPLE TO EVEN

UNDERSTAND SILOS EXIST, IT IS

NOT ACCEPTABLE TO JUST STAY

INSIDE YOUR COMFORTABLE SILO AND

NOT COLLABORATE.

SO THERE'S GOOD NEWS IN TERMS OF

WHAT'S ACCOMPLISHED IN THE

BIOMEDICAL RESEARCH SYSTEM BUT

WE'RE POISED FOR MUCH MORE

SPEED, MUCH MORE DELIVERY, MUCH

IN A WAY MORE GREATNESS OUT OF

THE SYSTEM.

WE CONSTANTLY ARE HEARING ABOUT

HOW WE'RE POISED ON THE EDGE OF

SCIENTIFIC DISCOVERY AND I

DEFINITELY BELIEVE ALL OF IT IS

INTERRELATED.

IF WE CAN'T SOLVE THEMENT ISIC

ISSUES WE WON'T BE ABLE TO REAP

THAT BENEFIT FROMNA DISCOVERY.

SO THREE QUICK PROGRAMS THAT WE

WORK ON AT FASTERCURES, POLICY,

WHICH I WILL TOUCH ON A COUPLE

OF THINGS, COLLABORATION 2.0,

AND THEN THE SCIENCE OF PATIENT

INPUT.

FROM Z SO I'M GOING TO GIVE YOU

PA VERY RAPID OVERVIEW OF SOME

OF THE WORK WE'RE DOING BUT

DON'T BE DISMAYED BY THE SPEED,

OUR WEBSITAL HAS ALL THESE

MATERIALS AN MORE.

I ENCOURAGE YOU TO LOOK AT THEM.

IF YOU'RE PUZZLEDDED BY THINGS

YOU'RE EXPERIENCING ON THE

WEBSITE IN TERMS OF WANTING MORE

DETAIL OR MORE UNDERSTANDING,

REACH OUT TO ME OR ANY OF MY

TEAM THAT'S OPT WEBSITE AND WE

-- ON THE WEBSITE AND WE'LL WALK

YOU THROUGH WHAT WE HAVE AND WHO

WE KNOW THAT CAN HELP YOU.

SO THIS SLIDE MADE ME CHUCKLE, A

COLLEAGUE OF MINE USES THIS WHEN

TALKING THE SCIENCE OF PATIENT

INPUT.

SHE AND I ARE THE SAME AGE

BRACKET SO IT MADE ME LAUGH

BECAUSE I DO REMEMBER WHEN MY

PARENTS THOUGHT THIS WAS GOOD

LIVING.

MY MOM AND DAD THEY DID GET A

PERCOLATOR WHICH I DON'T KNOW IF

YOU GUYS REMEMBER THAT SOUND, A

PERCOLATOR IN THE MORNING MAKING

ALL THESE STRANGE NOISES.

BUT THIS WAS ESSENTIALLY PATIENT

PREFERENCE AS IT RELATED TO

CAFFEINE.

OBVIOUSLY YOU KNOW WHAT THE NEXT

SLIDE WILL LOOK LIKE WHICH IS

THE NEW MODEL THAT WE HAVE AND

WHO KNOWS WHAT THE NEXT MODEL

WILL BE.

I HEARD REALLY FANTASTIC PODCAST

RECENTLY BETWEEN ALECK BALDWIN

AND HOWARD SHULS WHO CREATED

STARBUCKS.

HE WAS TALKING THE NEXT

GENERATION OF INNOVATION.

SOS IS SAD THAT WE HAVE MORE

INNOVATION OBJECT COFFEE SIDE

THAN SOME OF THE TIME LOOKING AT

THE BIOMEDICAL SIDE.

NOW YOU CAN PRETTY MUCH GET IT

ANYWAY YOU WANT IT AND BOY, ARE

THEY GOOD AT THEIR BUSINESS

MARKET.

THEY KNOW WHO THE NEXT CUSTOMER

BASE IS.

MY 14-YEAR-OLD DAUGHTER WHO IS

IF LEFT TO HER OWN DEVICES IS IN

THERE WITH ALL HER SPECIAL

ORDERS AND MOM CAN I HAVE A TEN

PLEASE.

SO WE NEED TO FIGURE HOW TO TAKE

THE PERSONALIZATION AN BRITT IT

TO HEALTHCARE.

SO THIS TALKS TO THE JOURNEY

HOWARD SCHULTZ TOOK EVERYBODY

ON.

WHEN WE LOOK AT THE PATIENT

CENTERED HEALTHCARE SYSTEM,

WE'RE TRYING TO UNDERSTAND HOW

YOU CAN CONNECT THE DOTS WEAN

THE HEALTHCARE SYSTEM, THE

BIOMEDICAL SYSTEM AND THE

PATIENTS AND AGAIN, YOU HAVE

MASTERS HERE YOU'RE GOING TO

HEAR FROM IN TERMS OF DIFFERENT

SPEECHES TODAY.

THIS IS A QUOTE THAT CAUGHT US

BY ATTENTION.

IF PATIENT ENGAGEMENT WERE A

DRUG, IT WOULD BE THE

BLOCKBUSTER DRUG OF THE CENTURY

AND MALPRACTICE NOT TO USE IT.

AGAIN, I THINK IN THE GOOD NEWS

CATEGORY WE ARE SEEING

ADVANCEMENT IN THIS ERA BUT WE

HAVE A LOT OF WORK TO DO.

SO THIS WALKS YOU THROUGH THE

CONTINUUM OF DIFFERENT STAGES OF

BIOMEDICAL RESEARCH.

SO YOU HAVE GROUPS MOBILIZED IN

VARIOUS FACETS OF THIS, I WILL

POP UP WITH DIFFERENT PIECES SO

YOU CAN LOOK AT THAT.

THIS IS BY NO MEANS EXHAUSTIVE

BUT IT GIVES YOU A PERSPECTIVE

ON WHERE WE'RE SEEING PATIENT

ENGAGEMENT AND WHAT ARE SOME OF

THE OPPORTUNITIES.

THERE IS STILL WORK TO BE DONE

IN THAT SCIENCE OF PATIENT INPUT

AND THIS SLIDE WHICH MAKES YOUR

BRAIN BURST OPEN BECAUSE THERE'S

SO MUCH ON IT, I KNOW YOU'RE NOT

GOING TO READ ALL THAT BUT IT

SHOWS YOU SOME OF THE WORK THAT

DIFFERENT ORGANIZATIONS ARE

DOING.

CTTI HAD ASSEMBLED GROUP, THE

INSTITUTE OF MEDICINE HAS DONE

WORK AND IS CONTINUING TO DO

WORK IN THIS AREA.

REALLY TRYING TO DO SOME

THOUGHTFUL MAPPING OF WHERE ARE

WE IN TERMS OF PATIENT

ENGAGEMENT AND LOOKING AT THE

SCIENCE OF PATIENT INPUT AND

WHERE DO WE NEED TO BE.

THIS IS THE OVERVIEW OF WHAT

WE'RE DOING VIA FASTERCURES.

WE'RE LOOKING AT THOUGHT

LEADERSHIP, WHAT IS THE PRACTICE

AND WHAT ARE THE POLICIES.

THE WAY WE TRY TO OPERATE, I

THINK MULTITUDE OF OTHER NOT FOR

PROFIT GROUPS COULD SAY THE

SAME, THE OCEAN IS SO BIG AND

OUR BOAT IS SO SMALL.

SO WE WOULD NEVER TRY TO PROFESS

TO BE ABLE TO WORK ON IT ALL.

SO WE'RE IN CONSTANT MODE OF

UNDERSTANDING WHAT'S THE LAY OF

THE LAND OUT THERE.

THERE IS AN  EXTENSIVE AMOUNT OF

MATERIALS THAT WE HAVE ON OUR

WEBSITE RELATED TO THE SCIENCE

OF PATIENT INPUT.

AND IT WILL TELL YOU IN A

RESOURCE LIBRARY WAY, WHERE

THINGS LIVE WITHIN DIFFERENT

ORGANIZATIONS AND THERE WILL BE

MORE SPECIFICS ABOUT WHAT WE'RE

DOING.

LET ME GIVE A QUICK STOPPING

POINT ON THE ROAD WE'RE ON ON

THE JOURNEY.

ABOUT A YEAR AGO WE HELD A

WORKSHOP THAT MAPPED OUT THE

TERRAIN FOR THE COMMUNITY AND

KIND OF PUT THAT BACK OUT THE

COMMUNITY IN AN OPEN SOURCE WAY,

IT BECAME A ROADMAP FOR US.

ONE OF THE THINGS THAT WAS

INTERESTING IS THAT THERE IS A

WIDESPREAD MISUNDERSTANDING AND

UTILIZATION OF THE TERMS.

SO WE DID A VERY QUICK AND DIRTY

REPORT THAT WE CALLED THE

TAXONOMY REPORT.

THAT REALLY HELPS TO DIVE INTO

WHAT ARE THE DIFFERENT TERMS

WE'RE USING.

WE MEANING PATIENT

ORGANIZATIONS, INDIVIDUAL

PATIENTS, FOR PROFIT INDUSTRY,

HEALTHCARE, BIOMEDICAL

UNIVERSITY, GOVERNMENT

REGULATORS.

A NUMBER OF DIFFERENT ACTORS IN

THE SYSTEM.

EVERYBODY IS TALKING ABOUT THESE

WORDS DIFFERENTLY.

SO I WOULD LIKE TO SAY, WE DID A

MEETING AT THE INSTITUTE OF

MEDICINE LAST WEEK, WHERE IT'S

NOT NOT ENOUGH TO GIVE A BIG

HIGH FIVE AND SAY YEAH WE'RE

DOING IT, PATIENTS.

AREN'T THEY THE BEST?

AWESOME.

WE'RE BEGINNING WITH SOME OF

THIS HARD WORK TO UNDERSTAND

FROM A PATIENT PERSPECTIVE HOW

THEY CAN ENGAGE IN RESEARCH SO

IT'S AN EXCITING TIME, A BIT

DAUNTING AND THERE'S POLITICAL

RAMIFICATIONS IN CROSSING OVER

TO A NEW ADMINISTRATION, HAVING

THE NEW USER FEES ENACTED.

ALL THESE ARE INTERCONNECTED.

THIS IS MORE THE TAXONOMY

LANDSCAPE.

WE CAME UP WITH 200 TERMS AND

CONDITIONS AND MULTIPRESIDENT

ONES HAD MULTIPLE DEFINITION.

WE IN OUR REPORT TALKED ABOUT

RECOMMENDATIONS.

IF YOU'RE JUST STARTING THIS

JOURNEY OF

AND -- (LOST AUDIO) TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST I THINK THE HALLMARK RELATE

TO EACH OTHER.

THERE'S BEEN TENSION IN THE PAST

ABOUT THE TECHNOLOGY TRANSFER

ASPECTS AN WHO OWNS WHAT AS

THEY'RE ENGAGING AND CREATING

GRANT RELATIONSHIPS TOGETHER.

AND THEN NEW WORK THAT WE'RE

STARTING TO UNDERTAKE AND

UNDERSTAND THE LAY OF THE LAND

RELATES TO AREAS AROUND BIG

DATA, CONTRIBUTIONS WE CAN MAKE

IN TERMS OF A SLICE NOBODY IS

LOOKING AT THAT WE NEED SOME

WORK.

THE EVOLUTION OF CLINICAL TRIAL

DESIGN.

THIS GIVES YOU MORE ABOUT THE

WORK REPORT, FRAMEWORK ANALYSIS,

THERE'S THE CATALOG.

THIS GIVES YOU A SENSE OF SOME

OF THE WAYS CONSORTIA ARE DOING

THEIR WORK AND HOW DO THEY BREAK

OUT ACTIVITIES THEY'RE INVOLVED

IN.

IT'S ONE OF THESE THINGS WE WANT

TO SEE COLLABORATION BUT AS WE

KNOW FROM WHEN WE WERE CHILDREN

COLLABORATION DOESN'T

NECESSARILY HAPPEN NATURALLY ALL

THE TIME.

THERE HAS TO BE RULES OF THE

HIGHWAY, THAT'S ONE OF THE

PROGRAMMATIC AREAS DIVING A

LITTLE BIT DEEPER INTO ARE THE

METRICS HOW COLLABORATION WORKS.

HOW DO YOU KNOW WHEN YOU'RE

DONE, PROBLEM SOLVE WHILE YOU'RE

IN IT.

LAST BUT NOT LEAST I WILL TALK

POLICY ENDEAVORS IN ADVANCE OF

THE PRESIDENTIAL ELECTION WE ARE

NON-PORT ZAHN GROUP, WE WENT AND

INTERVIEWED OVER 150 DIFFERENT

STAKEHOLDERS IN THE RESEARCH

SYSTEM AND ASKED THEM

ESSENTIALLY IF YOU HAD A MAGIC

WAND WHAT WOULD YOU TELL THE

NEXT PRESIDENT TO FOCUS ON AND

THE THINKING WAS WE WANTED A

DOCUMENT WITH CROWD SOURCED

IDEAS.

THE THINKING WAS ALSO IN

ADDITION TO ADMINISTRATION AND

PRESIDENT IT WAS GOING TO BE A

TOOL FOR US AND ANYONE WHO

WANTED TO TAKE LOOK SO IS IT'S

ON OUR WEBSITE.

THE PIECE THAT I WANTED TO FLAG

FOR YOU SOMETHING THAT BUBBLED

FROM THE INTERVIEWS.

WE CAME UP WITH SEVEN DIFFERENT

PROGRAMMATIC THEMES AND THIS WAS

A BIT OF AN OVERARCHING THEME

THAT RELATES BACK TO SHARON

TERRY DID EDITORIAL IN SCIENCE

TRANSLATIONAL MEDICINE TWO

MONTHS AGO AND I HAVE ONE THAT'S

COMING OUT IN THE NEXT WEEK OR

SO THAT TALK TS ABOUT THE

TRAJECTORY OF THIS WORK.

SO PEOPLE FELT WHEN WE

INTERVIEWED THEM THAT THE TIME

HAD COME TO CREATE THIS MASS

CITIZENSHIP MOVEMENT.

IT'S INTERESTING POST ELECTION

HOW WE'RE REDEFINING CITIZENSHIP

AS RELATES TO THE ELECTORATE.

YOU'RE SEEING GRASSROOTS

ACTIVITY THAT MAYBE PEOPLE

DIDN'T THINK WOULD HAVE HAPPENED

SO THERE'S INTERESTING PARALLELS

WHAT WE'RE SEEING NATIONALLY AND

IN THIS AREA.

IT WAS DESCRIBED BY MANY PEOPLE

WE TALK TO AS REQUIRING TWO WAY

ENGAGEMENT AND THIS SEEMS

OBVIOUS AND INTUITIVE BUT ALL OF

YOU KNOW WE'RE NOT THERE YET, IN

TERMS OF BIOMEDICAL AND

HEALTHCARE SYSTEM CREATING A TWO

WAY ENGAGEMENT PROCESS.

SO THIS GIVES YOU THE BULLET

POINTS THAT CAME UP IN OUR

INTERVIEWS.

WE ARE STARTING TO GRAPPLE WITH

THIS AT PASTER USER AND --

FASTERCURES.

WE'RE TRYING TO GIRL OUT THE

BEST APPROACH TO TALK TO AS MANY

PEOPLE AS WE CAN ABOUT IT AND

FIGURE OUT WHAT IS A

CONTRIBUTION THAT WE MIGHT MAKE

TO IT AND HOW DO WE CONNECT TO

ALL OTHER GROUPS.

THAT'S THE THING WE'RE IN A WAY

MOST CONSCIOUS OF AND I WOULD

URGE YOU TO THINK ABOUT IT FROM

YOUR VANTAGE POINTS AS WELL.

WHICH IS AVOIDING DUPLICATION

BECAUSE THERE'S SO MUCH TO DO

FOR ALL OF US AND NOT ENOUGH

TIME OR RESOURCES.

THE LAST THING I'LL MENTION IS

WE CONVENE ANNUALLY A PARTNERING

FOR CURES MEETING.

WE HAD OUR 8TH IN NEW YORK IN

NOVEMBER AND WHAT WE'RE DOING

THIS YEAR TO MIX IT UP IS TAKE

-- SPLITTING IT IN TWO, ONE IN

BOSTON THAT WILL TAKE PLACE IN

JULY AND ONE IN SAN FRANCISCO

THAT WILL TAKE PLACE IN

NOVEMBER.

IT WON'T BE THE SAME SIZE NEW

YORK ONE WAS, WE'LL BRING DOWN A

NOTCH BUT WE FELT IT WAS TIME TO

MIX UM IN TERMS OF VENUES AND GO

TO HUBS OF BIOMEDICAL.

SO WE WOULD LOVE TO HAVE YOU

JOIN US FOR THAT.

I AM DONE, IF I HAVE TIME FOR

ANY QUESTIONS, IF ANYONE WANTS

TO ASK ME ANYTHING.

TIME FOR ONE QUESTION.

YES.

>> IT'S A HUGE IMPEDIMENT,

QUESTION WAS HOW WE SHARE DATA

IN RARE DISEASES, IT'S BEING

OWNED BY MULTIPLE SOURCES AND

IT'S NOT BEING SHARED ACROSS THE

BOUNDARIES.

IT'S BEEN SHUT DOWN.

SO ONE OF THE AREAS I WILL FOCUS

ON AND I KNOW OTHERS WILL TALK

ABOUT THIS AS WELL, OTHER

ASPECTS OF YOUR QUESTION IS

PATIENT REGISTRIES SO WE DID A

REPORT LOOKING AT SOME OF THE

BEST PRACTICES IN CREATE CANNING

A REGISTRY, THAT IS SOMETHING

THAT WE'RE SEEING INCREDIBLE

GROWTH IN ORGANIZATIONS SAYING

BASICALLY WE WANT TO CREATE A

VEHICLE TO GENERATE THE DATA BUT

ALSO THEN DEPLOY IT AND IT

RELATES BACK TO THAT SCIENCE OF

PATIENT INPUT.

THERE ARE MULTIPLE AREA IT IS

DATA IS GOING TO MATTER.

THE SCIENCE OF PATIENT INPUT IS

A SECTION OF BIOMEDICAL RESEARCH

CONTINUUM SO IT DOESN'T COVER

THE ENTIRE TRAJECTORY, WE'RE

BUILDING THE PLANE WHILE IT'S

BEING FLOWN.

THAT WOULD BE ONE RECOMMENDATION

I WOULD MAKE IS TO START TO LOOK

AT THAT.

I DO THINK, I DON'T KNOW WHAT

THE FORECAST LOOKS LIKE, OTHERS

MAY HAVE BETTER NUMBERS ON WHEN

DO WE THINK THAT THE -- THAT

MODEL IS GOING TO BE BROKEN.

THE HORDING AND THE CONTROLLING

OF THAT.

THERE IS A DRUM ROLL OR DRUM

BEAT THAT'S HAPPENING AND I FEEL

LIKE THE MOMENTUM HAS STARTED.

I KNOW YOU HEARD EARLIER FROM

RECEIVE ABOUT THE ALL OF US

PROGRAM AND THAT IS CERTAINLY

ONE THAT EVERYBODY IS LOOKING

TOWARDS AS AN EXAMPLE OF HOW DO

YOU BUILD IT FROM THE START

WHERE THERE'S A LITTLE BIT MORE

CLARITY ABOUT WHO OWNS IT.

SO I WILL STOP THERE BUT

ENCOURAGE YOU TO ASK THE OTHER

SPEAKERS AS WELL.

SO THANK YOU ALL VERY MUCH.

I LOOK FORWARD TO HEARING THE

OTHER PRESENTATIONS.  I HAVE TO

STEP OUT A MINUTE AND WE'LL COME

BACK.

I'M HAPPY TO TALK TO PEOPLE.

THANK YOU.

[APPLAUSE]

>> FOR THOSE WHO HAVE ATTENDED

THESE IN THE PAST OR WATCHED THE

VIDEOCAST, YOU WILL KNOW THE

LAST FOUR OR FIVE YEARS WE HAVE

BEEN HAPPY TO BE WORKING WITH

UPLIFTING ATHLETES.

AND WE HAVE HAD VERY GOOD RUN

WITH THEM WITH THEIR HELPING

THEM GROW AND THEY HAVE BEEN

HELPING US SPREAD THE WORD ABOUT

RARE DISEASES.

TODAY WE WILL HEAR FROM ROB LONG

WHO WILL TALK ABOUT HIS

EXPERIENCE GOING FROM ATHLETE TO

RARE DISEASE PATIENT BRINGING

FURTHER THAT CIRCLE THAT

CONNECTS ALL OF THESE EFFORTS.

[APPLAUSE]

>> HOW IS EVERYBODY DOING TODAY?

MY NAME IS ROB LONG, I WORK FOR

UPLIFTING ATHLETES.

I'M VERY HONORED AND SUCH A

PLEASURE FOR ME TO BE HERE

TODAY.

I WANTED TO TALK ABOUT UPLIFTING

ATHLETES FOR THOSE WHO DON'T

KNOW IT'S NON-PROFIT

ORGANIZATION AND WE INSPIRE THE

RARE DISEASE COMMUNITY WITH HOPE

THROUGH THE POWER OF SPORT.

WE HAVE ABOUT 25 STUDENT RUN

CHAPTERS ACROSS THE COUNTRY THAT

ARE FOOTBALL TEAMS, FOOTBALL

PROGRAMS, AT SCHOOLS LIKE

WASHINGTON, SYRACUSE, FLORIDA

STATE, CLEM SON, MARYLAND, THAT

ALL RAISE MONEY IN AN EFFORT TO

MAKE A DIFFERENT IN THE RARE

DISEASE COMMUNITY.

MY PERSONAL STORY AND HOW I

ENDED UP WITH UPLIFTING ATHLETES

STARTS AT MY TIME IN SYRACUSE.

I WAS GIVEN A SCHOLARSHIP TO

PLAY FOOTBALL AT SYRACUSE

UNIVERSITY.

I WAS INCREDIBLY FORTUNATE AND

LUCKY AND BLESSED TO HAVE THAT

OPPORTUNITY.

I HAD INCREDIBLE CAREER AT

SYRACUSE, LUCKY TO HAVE A GREAT

TEAM AND GREAT OPPORTUNITIES TO

WHERE I BECAME GOOD AND TAKE MY

TALL LENTS AND EFFORTS TO THE

NFL.

THREE DAYS AFTER THE GAME I WAS

DIAGNOSED, SYMPTOMS OF HEADACHES

AND GETTING SICK AND I FOUND

THAT I WAS DIAGNOSED WITH OOH

MASSIVE BRAIN TUMOR THAT HAD

TAKEN OVER A QUARTER OF MY

BRAIN.

IT WAS SOMETHING THAT IT WAS A

SHOCK AND CAUSE SUCH A CHANGE IN

PERSPECTIVE FROM ME, IT WENT

FROM ONE DAY I WAS PREPAREDDED

TO PLAY NFL AND UNDERSTAND THAT

I HAD BEEN GIVEN THIS

OPPORTUNITY TO PLAY AND LIVE MY

DREAM AS A YOUNG KID TO PLAY IN

THE NFL AND IN A MATTER OF SNAP

OF FINGERS THAT HAD GONE AWAY.

I WEPT FROM PREPARING -- WENT

FROM PREPARING TO PLAY IN THE

NFL TO PREPARING -- TO FIGHT FOR

MY LIFE.

I WENT AND MET WITH THE TEAM

DOCTORS AND THAT U SHOWED ME THE

MRI THE NEXT MORNING AND I HAD

SUCH A HARD TIME COMPREHENDING

HOW SOMEBODY WITH SUCH A LARGE

TUMOR COULD BE THE ONE LOOKING

AT THAT TUMOR ON THE COMPUTER

SCREEN.

AND IT WAS SUCH A SHOCK.

IT WAS ONE OF THOSE MOMENTS

WHERE YOU REALIZE THAT I REALIZE

I WAS IN FOR SUCH A BATTLE.

I WENT DOWN, I WAS FLOWN DOWN

BACK HOPE, DOCTORS SAID I NEED

TO BE WITH MY FAMILY TO TRY THE

GET THIS RESOLVED.

I WENT TO THOMAS JEFFERSON

HOSPITAL TO HAVE EMERGENCY

SURGERY TO REMOVE THE TUMOR AND

FOUR DAYS LATER, PATHOLOGY CAME

BACK.

UP TO THIS POINT THEY SUSPECTED

THE TUMOR WHILE LARGE WAS

HOPEFULLY BENIGN.

UNFORTUNATELY THAT WASN'T THE

CASE, IT WAS A GRADE 3 ANA

PLASTIC ASTROCYTOMA, A RARE

AGGRESSIVE FORM OF BRAIN CANCER.

THE DOCTORS -- IT WAS MY 22ND

BIRTHDAY, THE DOCTOR TOLD MY

PARENTS I LIKELY WOULDN'T SEE MY

25th BIRTHDAY.

THIS HAS ALL HAPPENED IN A

MATTER OF DAYS IT WAS SUCH A

CHANGE AND SOMETHING I WILL

NEVER FORGET.

THE EMOTIONS THAT YOU FEEL WHEN

YOU GO SUCH A SWING, A DIVISION

1 FOOTBALL PLAYER AND FEELING

INVINCIBLE TO JUST FEELING LIKE

YOU DIDN'T HAVE A CHANCE.  THE

DOCTORS THAT DAY WHEN THEY GOT

TO PANOLOGY BACK SAID WE DON'T

HAVE A CURE FOR WHAT YOU HAVE.

WE HAVE POTENTIAL TREATMENT

OPTIONS AND WE CAN SEE WHAT

HAPPENS.

I UNDERWENT 6 1/2 WEEKS OF CHEMO

AND RADIATION FOLLOWED BY

ANOTHER 16 MONTHS OF

CHEMOTHERAPY I WAS INCREDIBLY

FORTUNATE THAT I RESPONDED TO

THE CHEMOTHERAPY DRUGS I

RECEIVED AND AFTER ABOUT 18

MONTHS OR SO TREATMENT AND TOTAL

I HAD BEEN DECLARED CANCER FREE.

[APPLAUSE]

>> IT WAS AT THAT TIME, IT'S

SOMETHING YOU SHOULD FEEL SUCH

RELIEF FOR BUT AT THAT TIME IT

WAS ALMOST THE START OF WHAT WAS

AHEAD.

CAME TO FIND OUT WHEN I WAS

YOUNGER I HAD A BONE TUMOR THAT

WA ON MY LEG AND NOW I HAD THIS

BRAIN TUMOR SO THEY WERE SUSPECT

ING THAT SOMETHING WASN'T

RIGHT.

MY FAMILY HISTORY WE DEALT WITH

RARE DISEASES MY GRANDFATHER

PASSED AWAY AT 35.

MY MOM IS ONE OF SEVEN AND SHE'S

LOST THREE SIBLINGS TO CANCER.

IT IS SOMETHING THAT'S BEEN VERY

CLOSE TO ME AND MAY FAMILY AND

IT'S BEEN SUCH AN UNBELIEVABLE

EXPERIENCE AND I HAVE BEEN THE

FIRST PERSON IN MY FAMILY WHO

HAVE SURVIVED CANCER.

WHEN I WAS DIAGNOSED THE OUTLOOK

WAS NOT GREAT.

THE REASON I AM HERE TODAY IS

BECAUSE OF ORGANIZATIONS LIKE

THE NIH, PEOPLE WHO HAVE TAKEN

THEIR TIME AND MONEY AND

INVESTED PRECIOUS TIME DOLLARS

AND HEART AND SOUL INTO FINDING

RESEARCH AND FUNDING AWARENESS

AND FUNDING RESEARCH I WAS

RECIPIENT OF CHEMOTHERAPY JUST

PLACED ON THE MARKET AND HAS --

AND WORKED WELL BUT I UNDERSTAND

IT WAS ONLY JUST THE BEGINNING

AND WE HAVE SUCH A LONG WAY TO

GO.

WITH NOT JUST MY RARE DISEASE

BUT SO MANY OTHERS.

FIVE MONTHS AGO I WAS CALLED OUR

EXECUTIVE DIRECTOR SCOTT SHIRLEY

UP, I WAS LOOKING FOR SOMETHING

TO BE PART OF.

HE SAID WE NEED SOMEBODY AT

UPLIFTING ATHLETES.

IT'S BEEN SUCH A REWARDING

EXPERIENCE THAT I GET TO --

EVERY DAY I WAKE UP AND MAKE A

DIFFERENCE IN THE RARE DISEASE

COMMUNITY BY SPENDING MY TIME

AND WORKING WITH THESE FOOTBALL

PLAYERS WHO WERE KIDS JUST LIKE

MYSELF AND I CAN LOOK AND SAY

HEY, I SATURDAY IN YOUR SHOES

AND ALSO SAT IN THE HOSPITAL BED

OF THE PATIENTS OF WHO WE WANT

TO HELP.

IT'S SO IMPORTANT TO UNDERSTAND

THE PLATFORM AND DIFFERENCE YOU

CAN MAKE BEING A DIVISION ONE

FOOTBALL PLAYER AND BEING A

FOOTBALL PLAYER IN GENERAL.

SO IT'S SOMETHING THAT IS SO

REWARDING AND PART OF WHAT

UPLIFTING ATHLETES TO DO IS

UPLIFTING EXPERIENCES.

SO TODAY THERE WILL BE 30 TO 40

MEMBERS OF THE MARYLAND FOOTED

BALL TEAM WHO HAVE COME VISIT

THE PATIENTS AT NIH AND SHOW

WHAT THEY'RE DOING IN ORDER TO

HELP.

MARYLAND WILL AMONG OTHER

CHAPTERS HAVE FUNDRAISERS

THROUGHOUT THE YEAR TO RAISE

MONEY AND AWARENESS FOR RARE

DISEASE EFFORTS.

IT'S SOMETHING THAT WE HAVE BEEN

-- THE ORGANIZATION HAS BEEN

GOING ON FOR ABOUT NINE YEARS

AND WE REALLY HAVE BEEN WORKING

GROWING EVERY YEAR AND IT'S

SOMETHING THAT'S SUCH A BLESSING

TO BE PART OF AND I'M SO GLAD

THAT I CAN BE HERE AT THE NIH TO

SPEAK AND SHARE MY STORY.

TO KIND OF BRING THINGS FULL

CIRCLE AND I'LL WRAP UP, AS A

PART OF ALL MY MEDICAL HISTORY,

MY FAMILY'S MEDICAL HISTORY, I

WAS AT THE DOCTORS UNIVERSITY OF

PENN ON FRIDAY AND THEY

SEQUENCED MY FAMILY'S DNA AND

BUNCH OF GENETIC TESTING IN

HOPES OF FINDING SOME

COMMONALITY BETWEEN MY -- ME AND

MY PARENTS AND MY AUNT WHO HAVE

-- MY AUNT WHO PASSED AWAY AND

MY PARENTS DNA WAS USED TO

COMPARE AGAINST MINE TO SEE

WHERE THE TRAITS CAME FROM AND I

LOOKED AT THE SHEET AND THOUGHT

IT WAS FUNNY.

THE DNA SEQUENCING AND THE

GENETICS SEQUENCING, IT WAS ALL

FUNDED AND PART OF AN NIH

INITIATIVE.

AND I THOUGHT THAT WAS REALLY

COOL WHEN I WAS SITTING THERE AT

THE HOSPITAL AND LOOKED DOWN,

THERE'S A FUNNY WAY OF HOW

THINGS WORK.

AND I THINK'S FUNNY HOW I'M ABLE

TO BE HERE TODAY TO SHARE MY

STORY WHEN I WASN'T GIVEN A

CHANCE OR WASN'T REALLY SUPPOSED

TO BE HERE.

BUT IT'S SOMETHING FOR ME IT'S

SO REWARDING TO BE ABLE TO BE

HERE TO SHARE MY STORY TO SPEAK

FOR THOSE WHO CANNOT SPEAK FOR

THEMSELVES.

SO I WANT TO THANK YOU GUYS FOR

HAVING ME DAVID FOR INVITING ME

DOWN HERE AND EVERYBODY WHO

SUPPORTED AND WILL CONTINUE TO

SUPPORT UPLIFTING ATHLETE AND

EVERYTHING THAT WE DO IN THE

FUTURE.

IF YOU HAVE ANY QUESTIONS --

[APPLAUSE]

IF YOU HAVE ANY QUESTIONS I'LL

BE MORE THAN HAPPY TO ANSWER

THOSE.

AND IF NOT, I HOPE EVERYBODY HAS

A GREAT DAY AND HAS ENJOYED THE

FESTIVITIES OF TODAY.

AND CONTINUES TO UNDERSTAND THE

IMPACT THAT YOU GUYS ARE I CAN

MAAING JUST BY BEING HERE.

BECAUSE I DO BELIEVE AS A

COMMUNITY RARE DISEASE COMMUNITY

WE CAN MAKE A BIG DIFFERENCE IN

MANY PEOPLE'S LIVES.

THANK YOU.

[APPLAUSE]

(OFF MIC)

>> I AM AN EAGLES FAN.

YES.

THAT'S GOOD.

JUST AS -- I'M NOW -- I WAS

DIAGNOSED IN DECEMBER OF 2010 SO

I HAVE BEEN SIX YEARS CANCER

FREE NOW SO WHICH HAS BEEN AN

ABSOLUTE BLESSING AND SO

THANKFUL THAT BE HERE TO SHARE

MY STORY AND BE PART OF THIS.

(OFF MIC)

>> I WOULD LOVE TO DO THAT,

SHARE IT MORE PLACES THAN

ATHLETIC TEAMS BUT SORORITIES

AND FRATERNITIES.

PHILANTHROPIC.

IT'S SOMETHING WE WANT TO DO,

CONTINUE TO GROW UPLIFTING

ATHLETES INTO MORE THAN JUST

ATHLETICS AND LIKE I SAID, THE

UPLIFTING EXPERIENCES AND WHAT I

THINK IS REALLY COOL IS HAVING

PLAYS MEET PATIENTS NOT JUST

HERE BUT ACROSS THE COUNTRY AND

MANY DIFFERENT CHAPTERS GETTING

YOUNG STUDENT ATHLETES ENGAGED

WITH THE PATIENT SO THEY

UNDERSTAND THEY'RE NOT JUST

RAISING MONEY FOR AN

ORGANIZATION BUT FOR PEOPLE WHO

NEED OUR HELP AND THEY HAVE THE

PLATFORM TO DO SO.

AGAIN, THANK YOU GUYS SO MUCH.

I'M SORRY.

I KEEP CUTTING PEOPLE OFF.

(OFF MIC)

>> I'M DIANA CAMPBELL.

I WOULD LIKE TO KNOW BECAUSE

YOU'RE A FOOTBALL PLAYER DID

YOUR BRAIN TUMOR HAVE TO DO WITH

THE DIAGNOSIS OF SOME FOOTBALL

PLAYERS BY PLAYING FOOT BAT?

>> I WOULD SAY I DON'T THINK

ONLY BECAUSE I WAS A PUNTER AND

KICKER.

FORTUNATELY I DIDN'T HIT A LOT

OF PEOPLE.

THAT WAS KIND OF A FORTUNATE

THING FOR MY POSITION, I WAS

ABLE TO STAY AWAY FROM THAT.

I DO APPRECIATE THE QUESTION AND

THERE ARE NUMBER OF MY TEAMMATES

WHO SUFFERED SOME EFFECTS OF

THAT.

SO'S ONE OF THESE THINGS AS WE

LEARN MORE ABOUT AS WE LEARN

ABOUT THE BRAIN IN GENERAL, IT'S

SOMETHING TO BE VERY AWARE OF.

>> THANK YOU.

>> ANY OTHER QUESTIONS?

(OFF MIC)

>> I'M A PHILADELPHIA KID.

THAT MIGHT NOT BE A BIG -- --

I'M ON THE TESTIMONY WAGON.

(OFF MIC)

>> NORTH DAKOTA?

VERY COOL.

WELCOME TO MARYLAND.

I LIKE THEM TOO.

ANY OTHER QUESTIONS?

THANK YOU GUYS SO MUCH.

GLAD I COULD BE HERE.

[APPLAUSE]

>> EARLIER WE HEARD FROM

JONATHAN GOLDSMITH FROM CDER AT

THE FDA.

NOW WE HAVE THE OPPORTUNITY TO

HEAR FROM GAYATRI RAO, DIRECTOR

OF THE OFFICE OF ORPHAN PRODUCT

DEVELOPMENT AND SHE WILL TALK

ABOUT THE ACTIVITIES GOING ON IN

HER OFFICE.

>> GOOD AFTERNOON, THANK YOU,

DAVID.

I JUST BEFORE I START I REALLY

WANTED TO THANK CHRIS PETTY AND

ROB LONG FOR SHARING THEIR

STORIES.  CERTAINLY FOR ME AS

WITH I'M SURE MANY IN THE

AUDIENCE IT'S HUMBLING AND

INSPIRING TO HEAR THEIR STORIES.

IT GIVES THOSE OF US IN THE

SPACE INSPIRATION AND COURAGE

AND STRENGTH TO KEEP DOING WHAT

WE DO.

P SO THANK YOU.

WHAT I'M HERE TO TALK TO YOU

TODAY KIND OF SHIFTING GEARS A

LITTLE BIT IS TO TALK ABOUT SOME

NEW LEGISLATION WHICH I KNOW YOU

HAVE HEARD ABOUT EARLIER TODAY

WITH RESPECT TO 21st CENTURY

CURES WHICH WAS PASSED INTO LAW

LATE LAST YEAR AND IT HAD A

NUMBER OF PROVISIONS IN THERE TO

REALLY HELP PROMOTE DEVELOPMENT

OF PRODUCTS FOR PATIENTS WITH

RARE DISEASES.

SO I WANTED TO SPEND A FEW

MINUTES TO HIGHLIGHT SOME, JUST

SOME OF THOSE PROVISIONS AS

RELATES TO FDA AND WHAT WE'RE

DOING IN TERMS OF IMPLEMENTING

IT.

AS I MENTIONED THIS ACT WAS

SIGNED INTO LAW LATE LAST YEAR

DECEMBER 13, 2016.

OF THE NUMBER OF PROVISIONS

WITHIN 21st CENTURY CURES

WHICH DIRECTLY RELATE TO RARE

DISEASES AS WELL AS OTHERS MORE

BROAD BUT HAVE IMPLICATIONS,

THERE ARE A NUMBER BUT I WILL

HIGH HEIGHT THESE FOUR HERE.

THE FIRST I'M GOING TO TALK

ABOUT IS RARE PEDIATRIC DISEASE

PRY YOUR THE REVIEW VOUCHER

PROGRAM.

IT'S A MOUTHFUL, THIS PROGRAM

WAS CREATED BACK IN 2012 AND THE

CONCEPT BLIND THIS PROGRAM WAS

TO CREATE ADDITIONAL INCENTIVES

TO FIND WAYS TO MOTIVATE

COMPANIES TO DEVELOP DRUGS AND

BIOLOGICS FOR CHILDREN WITH RARE

DISEASES.

THERE ARE INCENTIVES THAT EXIST.

SO THE BASIC IDEA FOR THIS

PROGRAM IS IF THERE'S A COMPANY

THAT IS DEVELOPING A DRUG OR

BIOLOGIC FOR A RARE PEDIATRIC

DISEASE, IF THAT COMPANY GETS

THAT DRUG OR BIOLOGIC APPROVED,

THEY GET A VOUCHER THAT THE

COMPANY CAN USE THEMSELVES OR

THEY CAN SELL TO ANOTHER COMPANY

WHERE IN WHOEVER HAS THAT

VOUCHER, CAN REDEEM IT, IT'S

KIND OF LIKE A COUPON, YOU CAN

REDEEM AT THE AGENCY.

AND WHAT THAT GIVES YOU IS IT

GIVES YOU PRIORITY REVIEW,

SOMETHING CALLED PRIORITY REVIEW

OF APPLICATION THAT WOULDN'T

OTHERWISE GET PRIORITY REVIEW.

WHAT THAT MEANS IS IT ENABLES

THE HOLDER OF THE VOUCHER TO ASK

AND HAVE FDA REVIEW THAT

APPROXIMATE PLAYMYCATION IN SIX

MONTHS OPPOSED TO THE STANDARD

TEN MONTH CYCLE.

IT'S A LITTLE MORE COMPLICATED

BUT THAT'S THE BASIC GIST OF IT.

THIS PROGRAM WAS CREATED IN 2012

SET TO SUN SET AFTER A FEW SHORT

TERM EXTENSIONS AT THE END OF

DECEMBER.

WHAT 21st CENTURY CURES DID

IS REAUTHORIZED THE PROGRAM

THROUGH 2020, SO THROUGH

SEPTEMBER 30th, 2020.

IT HAD AN INTERESTING TA

PROVISION I. IT SAID IF A

COMPANY HAS A DRUG THAT'S

DESIGNATED A A RARE PEDIATRIC

DISEASE BY THAT 2020 DATE, THEY

HAVE AN ADDITIONAL TWO YEARS TO

GET THEIR MARKETING APPLICATION

APPROVED AND THEY CAN STILL GET

A VOUCHER. COMPANIES

REQUESTING THIS DESIGNATION AS A

RARE A TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

TEST TEST TEST TEST TEST TEST

AND THE WHOLE IDEA, THE REASON

THERE ARE SUN SET PROVISIONS TO

THIS PROGRAM IS BECAUSE THERE'S

STILL SORT OF A QUESTION MARK AS

TO HOW EFFECTIVE IS THIS PROGRAM

ADS STIMULATING AND

INCENTIVIZING DEVELOPMENT.

SO THERE'S A REQUIREMENT TO

STUDY EFFECTIVENESS OF THIS

PROGRAM AGAIN, 2020 HAD DONE THE

STUDY PRIOR TO THE FIRST SUN SET

IN WHICH GAO CONCLUDED IT WAS

TOO EARLY TO TELL SO NOW

THINKING IS LET'S EXTEND ANOTHER

FEW YEARS AND HAVE GAO TAKE

ANOTHER LOOK AND ISSUE ANOTHER

REPORT.

SO MOVING ON FROM DRUGS AND

BIOLOGIC TO TALKING DEVICES.

SOME FOLKS MAYBE FAMILIAR WITH

THIS PROGRAM CALLED THE HUD

PROGRAM.

THE IDEA IS THIS PROGRAM EXISTS

TO SIMULATE THE DEVELOPMENT OF

DEVICES FOR RARE DISEASES AND

THIS PROGRAM IS A LITTLE BIT

DIFFERENT FROM OUR DRUGS AND

BIOLOGICS.

BASICALLY THE IDEA IS IF A

DEVICE IS INTENDED FOR USE IN A

DISEASE AFFECTING FEWER THAN

4,000 INDIVIDUALS PER YEAR, IT'S

DESIGNATED AS WHAT WE CALL A

HUMANITARIAN USE DIVIDE, A HUD.

IF YOU GET DESIGNATED OR DEVICE

IS DESIGNATED AS A HUD, YOU'RE

ELIGIBLE TO ENTER A DIFFERENT

MARKETING PATHWAY CALLED A

HUMANITARIAN DEVICE EXEMPTION

PATHWAY.

WHAT THAT MEANS IS DEVICE CAN

GET ON THE MARKET BY SHOWING

IT'S SAFE, AND PROVIDES PROBABLY

BENEFIT SHOWING YOUR DEVICE IS

SAFE AND PROVIDES REASONABLE

ASSURANCE OF EFFECTIVENESS SO IN

LIEU OF EFFECTIVENESS THEY HAVE

TO DEMONSTRATE WHERE PROBABLE

BENEFIT IS.

THIS PROGRAM WAS CREATED A FEW

DECADES AGO IN 1990 AND SINCE

THE INCEPTION, 70 DEVICES HAVE

BEEN APPROVED FOR THIS PATHWAY.

WHAT CURES DID IS INCREASE

ELIGIBILITY FROM 4,000 BECAUSE

REMEMBER IN ORDER TO BE ELIGIBLE

FOR THIS PATHWAY YOU HAD TO BE

FOR A DEVICE FOR A DISEASE THAT

DID NOT -- THAT AFFECTED FEWER

THAN 4,000.

THE LAW CHANGED THE FEWER THAN

4,000 TO NOT MORE THAN 8,000 SO

IT DOUBLED THE ELIGIBILITY

CRITERIA FOR THIS PATHWAY WITH

THE HOPE OF STILL LATING MORE

DEVELOPMENT IN THE SPACE AND

MORE DECIDESES IN THIS SPACE.

IT ALSO ASKED THE AGENCY TO

ISSUE GUIDANCE ON WHAT DO YOU

MEAN BY PROBABLE BENEFIT?

WHAT IS THERE TO UNDERSTAND WHEN

YOU SAY SAFE CITY AND

EFFECTIVENESS BUT WHAT DO YOU

MEAN BY PROBABLE BENEFIT?

SO AGAIN, WE ARE ACTIVELY

REVIEWING APPLICATIONS APPLYING

THE 8,000 STANDARD FOR

DESIGNATIONS AND ALREADY STARTED

ACTIVELY WORKING IN THE AGENCY

ON DEVELOPING THIS GUIDANCE

AROUND WHAT PROBABLE BENEFIT IS.

THERE IS A LOT IN CURES RELATED

TO PATIENT FOCUSED DRUG

DEVELOPMENT, THIS OVERLAPS THE

THE PDUFA THE PRESCRIPTION DRUG

USER FEE ACT AGREEMENTS.

AND SO I'M GOING TO HIGHLIGHT,

THERE'S A NUMBER OF PROVISIONS.

I WILL HIGHLIGHT A FEW HERE.

IT'S REALLY, YOU HAVE HEARD THIS

FROM OTHER SPEAKERS IN THE DAY.

IT'S REALLY CENTERED AROUND HOW

TO TAKE WHAT WE HAVE DONE SO FAR

IN TERMS OF PATIENT FOCUSED DRUG

DEVELOPMENT AND HARNESS IT IN A

DATA DRIVEN WAY.

FEW THINGS IT DOES IS OKAY WHEN

BLA GETS APPROVED FDA MAKES

PUBLIC A NUMBER OF THINGS ABOUT

THAT PRODUCT.

IF YOU HAVE TO PROVIDE A BRIEF

STATEMENT ON WHAT PATIENT

EXPERIENCE DATA WAS SUBMITTED AS

PART OF THAT APPLICATION AND

REVIEWED.

IN ADDITION THAT'S SORT OF TELLS

THE AGENCY TO ISSUE GUIDANCE ON

A NUMBER OF AREAS.

ONE, METHODOLOGICAL

CONSIDERATIONS ON HOW TO USE

PATIENT EXPERIENCE DATA.

THE SECOND IS YOU HEAR A LOT OF

PATIENT ADVOCACY ORGANIZATIONS

TALKING ABOUT DOING GUIDANCE

DEVELOPMENT SIMILAR TO WHAT PPMD

MUSCULAR DYSTROPHY DID FOR DMD

THEY SUBMITTED A DRAFT GUIDANCE

TO THE AGENCY.

SO IT TELLS THE AGENCY TO ISSUE

GUIDANCE ON HOW SHOULD YOU

SUBMIT A PROPOSED DRAFT GUIDANCE

TO FDA?

AND LASTLY IT SAYS TO ISSUE

GUIDANCE ON HOW FDA ANTICIPATES

USING THIS PATIENT EXPERIENCE

DATA AND MAKING THEIR RISK

BENEFIT DECISIONS.

SO THESE ARE JUST A IF U VERY

HIGH LEVEL THINGS THAT CURES HAS

IN TERMS OF PATIENT FOCUSED DRUG

DEVELOPMENT.

THESE ARE THE HIGHLIGHTS, THERE

ARE MANY MORE BUT I WANTED TO

ALSO SPEAK BRIEFLY ABOUT THE

EXPANDED ACCESS POLICIES WITH

CURES DATA, IT REQUIRES

MANUFACTURERS AND DISTRIBUTORS

ON INVESTIGATION DRUGS TO MAKE

THEIR POLICIES FOR INDIVIDUAL

PATIENT EXPANDED ACCESS

REQUIREMENTS PUBLIC.

COMPANIES HAVE TO GENERALLY

THEY'RE REQUIRED TO POST ONLINE

WHAT THEIR EXPANDED ACCESS

POLICIES ARE, IT'S IMPORTANT TO

REMEMBER THAT IF THIS IS A

POSTING REQUIREMENT IT DOESN'T

NECESSARILY REQUIRE TO PROVIDE

OR MAKE AVAILABLE IN EXPANDED

ACCESS FASHION INVESTIGATIONAL

DRUGSES SO I JUST LISTED --

DRUGS SO I JUST LISTED THE

EFFECTIVE DATES HERE.

SO IN THE INTEREST OF TIME THOSE

ARE ONES TO HIGHLIGHT.

TALKING NEW INCENTIVES FOR DRUGS

AND BIOLOGICS, TALKING WAYS TO

PROMOTE DEVELOPMENT OF DEVICES.

FOR RARE DISEASES AND LIKEWISE

TALKING ABOUT PATIENT FOCUSED

INITIATIVES.

AND WITH THAT I JUST REALLY

WANTED TO END BY SAYING WE AT

THE AGENCY THOSE OF US WHO WORK

ON RARE DISEASES AND NOW THERE'S

SO MANY OF US WHO WORK IN THIS

SPACE, WE'RE REALLY COMMITTED TO

THE WORK THAT WE DO AND PROUD TO

PARTNER WITH ALL OF YOU IN

WORKING TOGETHER TO REALLY BRING

SAFE EFFECTIVE DRUGS AND DEVICES

AND BIOLOGICS TO PATIENTS WHO

NEED IT SO THANK YOU FOR THE

OPPORTUNITY TO PRESENT BRIEF

HIGHLIGHTS.

IF THERE IS A QUESTION, I DON'T

KNOW DAVID CAN I TAKE A

QUESTION?

IF THERE IS A QUESTION I'M HAPPY

TO ANSWER IT, OTHERWISE IF YOU

WANT TO FIND ME, I'M HAPPY TO

CHAT AFTERWARDS AS WELL.

[APPLAUSE]

>> ONE QUESTION I HAVE IS WHEN

THERE ARE RARE DISEASES AND

THERE'S NOT A LOT OF CLINICAL

STUDIES BEING DONE BECAUSE IT'S

A SMALL NUMBER BUT YET FOR ME

THE RHEUMATOLOGY DEPARTMENT AT

HOPKINS REALIZES OTHER MEDICINES

ARE HELPING THAT DON'T HAVE

MEDICATION.

ARE YOU ADVOCATING AS WELL FOR

HELPING TO GAIN ACCESS TO SOME

OF THE OTHER DRUGS AND PERHAPS

GET NOT INDICATION BUT ACCESS TO

THOSE DRUGS FOR RARE DISEASES?

>> OFF LABEL USE DRUGS ARE

AVAILABLE AND APPROVED FOR

SOMETHING ELSE.

>> AND HELP GET INSURANCES TO

COVER THEM AS WELL.

>> REALLY GOOD QUESTION.

WE RECOGNIZE THAT IN RARE

DISEASES THERE'S A LOT OF OFF

LABEL USE THAT HAPPENS.

WE DON'T -- FDA DOES NOT

REGULATE THE PRACTICE OF

MEDICINE.

SO WE REALLY LEAVE IT UP TO

PHYSICIANS TO USE THEIR BEST

JUDGMENT AND WHEN THERE ISN'T AN

APPROVED THERAPY TO USE THEIR

BEST JUDGMENT IN DETERMINING

WHEN A DRUG MAYBE APPROPRIATE

FOR YOU OR SOMEONE ELSE THAT MAY

NOT BE APPROVED FOR THAT USE.

SO WE DON'T ENGAGE IN THAT

LIKEWISE IN TERMS OF ENSURING

REIMBURSEMENT AGAIN

REIMBURSEMENT IS NOT SOMETHING

WE HAVE JURISDICTION OVER.

PRICE, COST, OUR MAIN PRIORITY

IS TO ENSURE THAT PRODUCTS WE

RECEIVE WE REVIEW AND SORT OF

ENSURE THEY'RE SAFE, EFFECTIVE

FOR USE AND SO FAR AS MY OFFICE

IS CONCERNED THAT WE'RE

APPROPRIATELY INCENTIVIZING

DEVELOPMENT OF PRODUCTS FOR

PATIENTS WITH RARE DISEASES.

THANK YOU FOR YOUR QUESTION.

>> FOLLOW-UP ON THAT QUESTION.

MANY TIMES INSURANCE COMPANIES,

A SPECIFIC EXAMPLE WOULD BE PULL

MA SO I'M, THAT'S APPROVED FOR A

-- PULMAZYME (PHONETIC), MY

DOCTOR FEELS STRONGLY THAT MY

SON SHOULD GET IT BUT THE

INSURANCE COMPANIES USE THE FACT

THAT IT'S NOT APPROVED BY THE

FDA FOR ANOTHER SPECIFIC DISEASE

TO NOT COVER IT.

SO I WAS WONDERING HOW WOULD

RARE DISEASE PATIENT GROUP GO

ABOUT GETTING A MEDICATION

APPROVED FOR THEIR DISEASE SO

THAT IT COULD BE PRESCRIBED ON

LABEL FOR THAT INDICATION?

>> GOOD QUESTION.

CERTAINLY ACCESS IS ONE THING IN

TERMS OF BEING ABLE TO GET THE

DRUG FOR AN INDIVIDUAL PATIENT

AND ANOTHER TALKING ABOUT THE

LONGER TERM, ISSUE IS HOW TO GET

THAT DRUG LABELED FOR USE.

AS A PATIENT GROUP QUITE

HONESTLY IT'S REALLY WITHIN THE

RUBRIC OF THE COMPANY OR A

SPONSOR TO WANT TO DEVELOP THAT

DRUG, AND SEEK APPROVAL OF THAT

DRUG FOR THAT SECONDARY

INDICATION.

IN THAT CASE THE RARE DISEASE

INDICATION.

WE TRY TO LEVERAGE THE

INCENTIVES THAT WE ALREADY OFFER

TO MOTIVATE COMPANIES TO DO JUST

THAT.

SO FOR EXAMPLE IN IN TERMS OF

BEING ABLE TO USE DEVELOPMENT

INCENTIVES THAT WE HAVE LIKE TAX

CREDITS FOR CLINICAL TRIALS OR

WAIVING FEES WHEN SUBMITTING

MARKETING APPLICATION FOR NEW

USE, THOSE CAN STILL BE APPLIED

BUT AT THE END OF THE DAY IT'S

REALLY THE COMPANY.

WHO NEEDS TO TAKE THIS ON AND

TRY TO GET THAT DRUG APPROVED

FOR I.

>> I SEE.

FOR ULTRA RARE DISEASE GROUPS IT

MAYBE DIFFICULT, THERE ARE VERY

LITTLE FINANCIAL INCENTIVE FOR A

COMPANY TO DO THAT.

IS THERE ANY HOPE RARE DISEASE

GROUP MIGHT HAVE A HUNDRED

PATIENTS WORLDWIDE TO GET THESE

APPROVED ON LABEL?

>> I KNOW IT SEEMS DAUNTING BUT

IT HAPPENS MORE OFTEN THAN YOU

THINK.

WE HAVE SEEN CASES WHERE A

PATIENT PARTNER CLOSELY WITH

COMPANIES AND OFTEN BECAUSE WHEN

GROUPS ARE VERY WELL ORGANIZED

THEY CAN HELP BRIDGE GAPS AND

REALLY MOVE THE NEEDLE FORWARD

LEG WORK REQUIRED FOR COMMITTING

A SUPPLEMENTAL APPLICATION.

SO CERTAINLY CASES WHERE THAT

HAS HAPPENED.

IT IS NOT INTENDED TO

DISCOURAGE.

THE DISEASE POPULATION MIGHT BE

MALL IS NOT A BAR TO IT.

THERE WAS A CASE TWO YEARS AGO

WHERE THERE WERE ONLY TEN KNOWN

CASES IN THE UNITED STATES AND

THERE WAS A DRUG APPROVED FOR

IT.

>> THANK YOU VERY MUCH.

ANY OTHER QUESTIONS?

I'M AROUND IF FOLKS WANT TO CHAT

AFTERWARDS.

THANK YOU AGAIN.

[APPLAUSE]

>> THANK YOU, GAYATRI.

I WANT TO POINT OUT THAT BECAUSE

THERE ARE STATUTORY REASONS THE

FDA CAN'T GET INVOLVED IN SOME

OF THESE THINGS, A LOT OF THOSE

ACTIVITIES ARE TAKEN UP BY

PATIENT GROUPS WHETHER DISEASE

SPECIFIC PATIENT GROUPS OR SOME

OF THE UMBRELLA ONES.

SO I WOULD BE OZONE COURAGE YOU

TO REACH OUT TO THEM, GENETIC

ALLIANCE, GLOBAL GENES,

FASTERCURES, ANYONE YOU CAN FIND

OUT THERE REACH OUT AND FIND OUT

WHATEVER EFFORTS THEY HAVE GOING

THAT MIGHT BE ABLE TO HELP YOUR

SPECIFIC DISEASE COMMUNITY

BECAUSE ALL OF THEM ARE DOING

ACTIVITIES IN THAT AREA.

AND SOME OF THOSE ACTIVITIES MAY

RESONATE AND COINCIDE WITH THE

WORK YOU'RE TRYING TO DO.

IN ADDITION TO SOME OF THE WORK

GOING ON AT NCATS, N CATS IS

DOING QUITE A BIT IN DRUG

REPURPOSING AND FINDING NEW

THERAPEUTIC USES FOR EXISTING

DRUGS.

SO THERE'S QUITE A BIT GOING ON

IT'S A MATTER WHETHER YOUR

DISEASE CAN FIND SOME OVERLAP

AND SYNERGY WITH EXISTING

EFFORTS.

OUR NEXT SPEAKER IS SHARON

STORY.

SHE IS THE PRESIDENT AND CEO OF

GENERAL IT CAN ALLIANCE AND SHE

WILL TALK ABOUT THE ACTIVITIES

GOING ON THERE.

WHAT IT MEANS WHEN THE PATIENT

IS NOT AT THE TABLE.

>> THANKS VERY MUCH, HAPPY TO

JOIN YOU AGAIN THIS YEAR AS I

HAVE BEEN FORTUNATE TO DO MANY

YEARS OR SOME OF MY COLLEAGUES

HAVE AS AS WELL.

I'M PRESIDENT AND CEO OF GENERAL

IT CAN ALLIANCE WHICH IS A

NETWORK I WILL TALK ABOUT A

LITTLE AND THE FOUNDING CEO OF

PXE INTERNATIONAL WHICH I WILL

ALSO TALK ABOUT A LITTLE.

IT'S VERY TRUE THAT IT IS

FINALLY THE AGE OF

PATIENT-DRIVEN LOTS OF THINGS,

WHETHER IT'S DRUG DEVELOPMENT,

PATIENT CENTERED OUTCOMES

RESEARCH, REGISTRY DEVELOPMENT,

ET CETERA, I THINK AS MUCH AS A

LOT OF US HAVE BEEN BEATING THE

DRUMS FOR LOTS OF YEARS AND I

SEE MANY OF MY OLE FRIENDS IN

THIS ROOM BECAUSE I'M NOW OLD

TOO AT THIS GAME, WE HAVE COME

OF AGE.

MY TWO CHILDREN ELIZABETH AND

IAN, I PAY ROYALTIES TO USE THIS

PHOTOGRAPH, DIAGNOSED IN 1994

WITH A RARE GENETIC CONDITION, I

WAS A COLLEGE CHAPLAIN, MY

HUSBAND WAS A CONSTRUCTION

MANAGER FOR THE INFRASTRUCTURE

OF BIOMEDICAL SYSTEM IN BOSTON,

NEITHER WITH ANY SCIENTIFIC

TRAINING WHATSOEVER.

LIKE MANY WHO COME TO THIS

BECAUSE YOUR MOMS OR DADS OR

YOURSELF OR SPOUSE, IT IS NOT

SOMETHING BEEXPECT TO DO IN LIFE

AND I THINK THE ONE THING WE

SHOULD ALL KNOW AS HUMANS IS WE

WILL ALWAYS DO THINGS WE DON'T

EXPECT.

I THINK LOTS OF US HAD THE

OPPORTUNITY AS WELL AS THE

CHALLENGE OF WALKING INTO A LAND

THAT WE DIDN'T KNOW WE WOULD BE

PART OF, THE LAND SUSAN SON TAG

SAYS WE ALL HOLD TWO PASS PORTS

AND DON'T WANT TO HOLD THAT

DISEASE PASSPORT BUT WE DO ALL

OF US AT SOME POINT SOME OF US

SOONER RATHER THAN LATER BECAUSE

MY KIDS WERE DIAGNOSED A COUPLE

OF DAYS BEFORE CHRISTMAS AND

BECAUSE RESEARCHERS ASKED FOR

THEIR BLOOD TWO DAYS AFTER AND

TWO DAYS AFTER THAT AND WE WERE

SHOCKED AS PARENTS THAT SHARING

WASN'T HAPPENING, THAT PEOPLE

WEREN'T COLLABORATING ESPECIALLY

ON THINGS THAT WERE RARE, MY

HUSBAND AND I WENT INTO

OVERDRIVE LIKE MANY ADVOCACY

GROUPS ARE AND BUILD AN

INFRASTRUCTURE THIS IS 1995, THE

INTERNET IS NOT IN COMMON USE,

NO PERSON HAS ESTABLISH AD

BIOBANK OR REGISTRY.

WE WERE LAUGHED AND RIDICULED IN

RARE DISEASE MEETINGS, SENT TO

THE BACK AND ASKED TO LEAVE.

WE WERE ASKED TO CARRY THE

BRIEFCASE OF RESEARCHERS EVEN

HERE AT NIH BECAUSE WE SHOULDN'T

BE IN THE ROOM WITH LACK OF

CREDENTIALS WE HAD BUT WE

PERSEVERESSED AND AS MY KIDS

SAY, THE DAY THEY HAVE TO SAY

COULD YOU GET THE OVARIES AWAY

FROM THE ICE CREAM IN THE

FREEZER, WE MADE THE SHIFTS TO

PROFESSIONALIZE EVERYTHING WE

WERE DOING, THEY ONLY LASTED A

DAY.

WE PUT TOGETHER A BIOBANK

REGISTRY, FOUND THE GENE

OURSELVES WORKING AT NIGHT IN A

LAB AT HARVARD WHERE WE BORROWED

BENCH SPACE AND PATENTED THE

GENE SO WE BECAME STEWARDS AND

COULD RETAIN OWNERSHIP AND MAKE

SURE IT WAS SHEPHERDED PROPERLY.

WE PUT TOGETHER GENETIC TEST AND

BROUGHT IT TO FDA FOR APPROVAL,

WE THEN PUT TOGETHER CLINICAL

TRIALS.

MY HUSBAND AND I THROUGH THIS

TIME REALIZE IT WAS SILLY TO DO

THIS FOR ONE DISEASE AND WITHIN

THREE OR FOUR MONTHS OF STARTING

THIS IN 1995, WE BEGAN TO WORK

WITH GENETIC ALLIANCE.

GENERAL TUCK ALLIANCE IS NOW AN

ORGANIZATION -- GENETIC ALLIANCE

IS AN ORGANIZATION OF 10,000

ORGANIZATIONS SO IT'S AN

ALLIANCE, A LOOSE NETWORK, I IT

HAS 2000 ADVOCACY DISEASE

SPECIFIC ADVOCACY ORGANIZATIONS

UNDER ITS UMBRELLA.

AND 8,000 OTHER ORGANIZATIONS.

HOSPITALS POLICY SHOPS,

COMMUNITY GROUPS, ALL KINDS OF

GROUPS INTERESTED IN HEALTH.

PARTLY BECAUSE WE BELIEVE WE

HAVE TO WORK TOGETHER ALL

STAKEHOLDERS AND NOT WORK IN THE

SILOS MARGARET SHOWED SO

BEAUTIFULLY.

SO A LOT OF THE WORK THAT

FASTERCURES GLOBAL GENES AND

OTHERS DOING IN BREAKING DOWN

SILOS WE ARE DOING AS WELL AND

LOOKING AT HOW WE GET OUR HANDS

DIRTY IN THE PROCESS.

SO WE AT GENETIC ALLIANCE LIKE

TO FIGURE OUT AN IDEA AND TEST

IT, BUILD A BIOBANK, A REGISTRY

AND I WILL SHOW A COUPLE OF

THESE THINGS.

WE'RE LOOKING AT HOW DO WE LOOK

AT HOW PEOPLE ARE EMPOWERED.

WE DON'T NEED TO EMPOWER PEOPLE.

PEOPLE DESERVE TO BE AT THE

TABLE AND MORE THAN THAT, SET

THE MENU DECIDE WHO IS COMING TO

THE MEAL, WHERE IT'S HELD, ET

CETERA.

SO WE LOOK AT HOW DO WE AS A

COMMUNITY LEVERAGE THOSE SORTS

OF THINGS.

THESE ARE PROJECTS IN THE RED

SPACESTHEY LIVE IN, THE 16 WEB

PROPERTIES THAT WE OWN AND RUN,

THESE ARE READILY AVAILABLE ON

THE NET SO I WON'T GO THROUGH

THESE GIVEN THE TIME BUT ALSO

ENCOURAGE ANYBODY TO LOOK AT

THESE AT ANY TIME.

ONE OF THE BIG PROJECTS, THIS IS

AN UPDATE THE LAST FEW YEARS

HAVE BEEN INVOLVED IN SOMETHING

CALLED PCORNET.

THAT WAS A NATURAL EXPERIMENT

FOR US TO BECOME VERY INVOLVED

IN IT.

SO GENETIC ALLIANCE IS PART OF

THE COORDINATING CENTER FOR

PCORNET WITH DUKE AND HARVARD.

IT'S ODD FOR A NON-PROFIT RUN BY

LAY PEOPLE TO BE IN THIS CIRCLE

WITH THESE ACADEMIC GROUPS, IT'S

BEEN SOMETHING PCORY COMMITTED

TO FROM THE BEGINNING.

THAT'S THE PATIENT CENTERED

OUTCOMEs RESEARCH INSTITUTE

FUNDED BY THE AFFORDABLE CARE

ACT THAT ALLOWED A LOT OF

PARTICIPANTS CENTRIC PATIENT

CENTRIC RESEARCH TO HAPPEN.

WE ARE A COLLABORATIVE ENTITY OF

20 PATIENT POWERED RESEARCH

NETWORKS, PEOPLE POWERED

RESEARCH NETWORKS WITH 13

CLINICAL DATA RESEARCH NETWORKS.

THOSE ARE EVERYTHING FROM KAISER

PERMANENTE TO VANDERBILT AND

ASSOCIATED HOSPITALS TO

CINCINNATI CHILDREN'S AND ALL

THE PEDIATRIC HOSPITALS THAT ARE

PART OF THAT, ET CETERA.

THAT TOGETHER FORMS THIS

NATIONAL CLINICAL RESEARCH

NETWORK.

WE WORK CLOSELY WITH NCATS, MEET

REGULARLY WITH VARIOUS ENTITIES

AT NCATS.

OUR GOAL THERE IS REALLY TO SAY

HOW DO WE BLOW THIS UP FURTHER?

SOME OF WHAT WE LOOK AT HERE,

HOW DO WE TAKE PEOPLE POWERED

PATIENT POWERED RESEARCH

NETWORKS OF WHICH MANY OF US

ADVOCACY GROUPS ARE THE SEED

FOR?

BUT HOW DO WE TAKE THOSE AND

ACTUALLY DO COMMUNITY-DRIVEN

RESEARCH, COMMUNITIES COME UP

WITH THE QUESTION, I HAVE A

DISEASE AND HERE IS MY QUESTION.

I AM IN THE LGBT COMMUNITY, HERE

IS MY QUESTION.

I'M A CAREGIVER FOR PEOPLE WITH

ALZHEIMER'S OR PARKINSON, HERE

IS MY QUESTIONS.

HOW DO WE COMMUNITIES COME UP

WITH THE QUESTION, THEN ANSWER

IT IN A SYSTEMATIC WAY, WE ARE

IN CHARGE, WHAT PROTOCOLS T

METHODS ANALYSIS IS DONE, HOW TO

DISSEMINATE THE RESULTS WHAT DO

WE COMPARE AND NOT COMPARE.

SO WE'RE LOOKING AT NOVEL WAYS

TO DURN THE SEASON ON ITS HEAD,

WE DIDN'T KNOW WHAT WE WERE

DOING AND REALLY

INSTITUTIONALIZED AND

COMMODITIZED THAT SO PEOPLE CAN

DO IT.

ANOTHER PRODUCT OVER THE LAST

FEW YEARS PARTICULARLY THE PAST

YEAR IS PLATFORM FOR ENGAGING

RESPONSIBLY.

IN 1995 I WROTE A HANDWRITTEN

QUESTIONNAIRE WHICH I SENT TO

PEOPLE WITH PSEUDO -- THE

DISEASE MY KIDS HAVE.

IN 1996 I PUT THAT IN FILE MAKER

PRO, AND IN 19 WHATEVER I PUT IT

IN RED TAP, NOW WHAT WE HAVE

DONE IS CREATED ESSENTIALLY A

SYSTEM WHEREBY ANY GROUP CAN

COME AND CUSTOMIZE A PORTAL TO

LOOK EXACTLY LIKE YOU WANT TO

LOOK.

SEVERAL ARE INVOLVED IN THIS,

IT'S REALLY NEAT WAY OF BEING

ABLE TO ASK THE QUESTIONS YOU

WANT THE ASK OF YOUR COMMUNITY.

AND ROBERT WOOD JOHNSON

FOUNDATION OVER THE LAST TWO

YEARS, FUNDED WHITE LABEL

PRODUCT.

I DIDN'T KNOW THAT TERM, IT'S

WHEN THE FACTORY PRODUCES CANS

OF PEAS AND SAFEWAY OR GIANT OR

STOP AND SHOT WITH THE LABEL,

IT'S ALL THE SAME PEAS IN THE

CAN, JUST HAS DIFFERENT LABELS

SO WE ARE ALLOWED EACH TO KEEP

BRANDING TO DO THE KIND OF WORK

WE NEED TO DO IN OUR COMMUNITIES

OF TRUST BUT TO ALSO HAVE THE

BACK END BEING THIS ROBUST

SYSTEM.

THE OTHER ADVANTAGE IS THIS

ALLOWS INDIVIDUALS TO MAKE

CHOICES ABOUT WHERE THEIR DATA

GOES BEYOND A SINGLE ENTITY.

SO THEY MIGHT BE INVOLVED IN ONE

STUDY BUT THEY MAY WANT THEIR

DATA TO BE AVAILABLE IN OTHER

STUDIES.

AND PART OF WHAT MARGARET WAS

TALKING ABOUT IN TERMS OF HOW TO

WE MOTIVATE PEOPLE TO GET TO

PLACES OF DATA SHARING, IS GOING

TO HAVE TO COME FROM THE PEOPLE.

I DON'T THINK IT WILL COME FROM

THE TOP DOWN FROM THE

INSTITUTIONS THAT HAVE SKIN IN

THE GAME TO KEEP DATA IN SILOS

WHEREAS WE HAVE SKIN IN THE GAME

TO SHARE DATA TO NOT HAVE YOUR

KIDS HAVE TO HAVE TWO BLOOD

DRAWS TWO DAYS APART WHEN FIVE

AND SEVEN YEARS OLD SO THE

PORTAL, YOU CAN LOOK AT

ANYTHING, I SHOULD HAVE DONE MLD

SINCE WE HAVE DAN RIGHT HERE BUT

ESSENTIALLY THE PORTAL LOOKS

LIKE YOUR COMMUNITY, IT HAS YOUR

COMMUNITY COLORS AND LOGO, ET

CETERA.

IT'S SIMPLY EMBEDDED IN YOUR OWN

WEBSITE SO YOU'RE AN iFRAME

ESSENTIALLY.

IT ALLOWS INDIVIDUALS TO MAKE

CHOICES ABOUT THEIR PRIVACY AND

I WILL SHOW THIS SCREEN BETTER

AND THEY HAVE TWO SETS OF

INFORMATION PUT IN TWO SEPARATE

DATABASES, PRIVACY DIRECTIVES,

WHERE THEY WANT INFORMATION TO

GO AND CONTACT INFORMATION, TWO

SEPARATE DATABASES THEN YOU

START TO ASK THEM QUESTIONS

ABOUT THEIR HEALTH OR BRING

GENETIC TESTING RECORDS, RAID

YES GRAPHIC RECORDS, WHATEVER,

DATA CAPTURE GOES INTO THE

HEALTH DATABASE AND YOU HAVE THE

DATA HOLDER, THAT CAN BE A

COMMUNITY, THE INDIVIDUAL

THEMSELVES, DIFFERENT LEVELS OF

DIFFERENT ENTITIES, AND THEN YOU

HAVE A DATA SEEKER COME ALONG.

THE TYPICAL PERSON WHO WANTS TO

DO SOME RESEARCH, THAT PERSON

COMES ALONG AND MAY ASK MAY I

SEE THIS HEALTH DATA, IT HAS THE

PRIVACY DIRECTIVES TO ASK THAT

QUESTION AND GETS AN ANSWER

ALLOW PROHIBIT OR ASK ME.

SO ONE OF THE ONLY SYSTEMS WITH

MAYBE.

IN THE GENERAL.

HAITIAN WE SEE MORE GRANULARITY,

IN OUR POPULATION WE SEE

GENEROUS SHARING ALL THE TIME.

THE DIFFERENCE I THINK THOUGH IS

I OFTEN SAY IF I WENT TO ANY ONE

OF YOUR HOUSES AND TOOK YOUR

BICYCLE YOU WOULD CALL THE

POLICE WHEN YOU FOUND IT

MISSING.

IF I ASK MAY I BORROW YOUR

BICYCLE YOU'RE GOING TO SAY YES.

TO ME IT'S THE SAME THING, I'M

RIDING BICYCLE ONE WAY OR THE

OTHER BUT SIMPLY ASKING MAKE AS

BIG DIFFERENCE AND WE NEED TO BE

ASKING PEOPLE CAN WE HAVE THAT

INFORMATION.

NOW, RESEARCHER MAY REALLY LIKE

THIS HEALTH INFORMATION AND SAY

THIS IS SOME GROUP OF PEOPLE I

WANT TO PUT INTO A STUDY.

I WANT TO BUILD THIS COHORT AND

NEITHER CONTACT INFORMATION SO

THEY SIMPLY ASKED THE SAME

QUESTION, THAT QUESTION GETS

ASKED OF PRIVACY DIRECTIVES AN

80% SHARE THEIR CONTACT

INFORMATION.

SO THAT RESEARCHER IN TEN

MINUTES HAS A SPREADSHEET OF

NAMES ADDRESSES, PHONE NUMBERS

EBB EVERYTHING TO DO THE STUDY.

INSTITUTIONAL REVIEW BOARDS ARE

INVOLVED, ET CETERA.

IN ORDER JUST LIKE SO MANY

THINGS IN OUR LIFE MARGARET

SHOWED YOU CAN GO INTO STARBUCKS

AND GET YOUR CUSTOM COFFEE YOU

CAN GET YOUR CUSTOM DATABASE

HERE AND DO THE RESEARCH WE WANT

TO SEE HAPPEN QUICKLY.

SOME SAY TO ME THAT'S

COMPLICATED, PEOPLE AROUND GOING

TO GET IT, DON'T GET IT, PEOPLE

CAN USE iPHONES THEY GET IT IF

THEY CAN'T GET IT WE HAVE GUIDES

AND EVERY COMMUNITY HAS THEIR

OWN GUIDES.

HERE YOU YOU ARE LOOKING AT

SICKLE CELL GUIDES, THESE ARE

PATIENT FOCUSED DRUG DEVELOPMENT

PROJECT WITH THE FDA.

THESE GUIDES EXPLAIN WHAT IT IS

TO PICK ONE SET OF PREFERENCES

OVER ANOTHER OR SAY YOU'RE LIKE

ME, PICK MY PREFERENCES OR HERE

IS MY SENSITIVITY AROUND THESE

ISSUES.  THESE ARE PULMONARY

FIBROSIS FROM THE DRUG

DEVELOPMENT PROJECT.

GIVING YOU IDEA WHAT IS THEY

CARE ANT THINK ABOUT AND YOU SEE

A GUY LIKE THIS LIKE GEORGE

APPARENTLY SPORTS KASTER LIVING

IN ATLANTA AREA, HE SAYS I TELL

EVERYBODY THAT I HAVE THIS AND

PUT MY SYMPTOM TONS RADIO DURING

SPORTS CASTING SO GEORGE IS

TOTALLY OPEN, HE HAS A CHECK BY

THE GREEN CIRCLE TO SAY I WILL

SHARE WITH EVERYBODY ALL THE

TIME.

SO WE CAN BE PRETTY GRANULAR.

AND PEOPLE CAN CHANGE THEIR

MINDS, IF THE MOM OR DAD OF A

KID WHO HAS NOTHING, NO SYMPTOMS

AT ALL, JOINS A REGISTRY LIKE

THIS, LIKE ALL OF US, THEY MIGHT

AT THE BEGINNING SAY I'M NOT

INTERESTED IN IN SHARING THEIR

ENGINE, I DON'T WANT TO KNOW IF

THEY HAVE A BRCA 1 MUTATION WHEN

THEY'RE 0, 2 OR 4 MONTHS AND

LATER MAY DECIDE TO CHANGE OUR

MIND AND SHARE A LOT OR SHARE

SPECIFIC THINGS.

THIS CAN BE DONE WITH SMART

PHONE TECHNOLOGY STARTING THIS

YEAR.

SO WHAT WE LOOK AT IS THREE

DIFFERENT WAYS OF ACCESSING

INFORMATION.

SO IN THIS FIRST COLUMN FIND AND

ANALYZE, EXPORT IN LINK SO

EXPORT DEIDENTIFIED INFORMATION

AND WE'RE STILL ASKING IN OUR

CULTURE MANY ACADEMIC

RESEARCHERS THINK THAT SHOULD BE

FREE.

WE SHOULD BE SHARING THAT

INFORMATION.

ON TOM SELLS IT, VARIOUS HEALTH

PLANS SELL THESE DATA ALL THE

TIME.

WHAT IS WRONG WITH SELLING AND

USING IT WITHOUT ASKING US.

WE'RE SAYING WE SHOULD BE ASKED

AND BE PART OF THE PUZZLE, PART

OF THE GAME.

AND THE LAST COLUMN GET THE

CONTACT INFORMATION AND AGAIN

GRANULARITY ABOUT HOW PEOPLE

DECIDE TO SHARE.

INDIVIDUALS RECEIVE FEEDBACK

WHEN THEY ANSWER A QUESTION, WE

FIND THAT HUMANS LIKE TO BE THE

SAME AS EVERYBODY AND BE TOTALLY

DIFFERENT THAN EVERYBODY.

SO WHAT WE FIND IS IT'S GOOD TO

GIVE PEOPLE FEEDBACK AND WE

BELIEVE PEOPLE NEED SOMETHING AS

THEY'RE GOING THROUGH THIS TO

UNDERSTAND HOW DO THEY FIT INTO

THE REST OF THE COMMUNITY, ARE

THEY SEEING THE SAME SIGNS OR

SYMPTOMS.

THOSE OF YOU WHO ARE PART OF

SUPPORT GROUPS KNOW THAT ON THE

LIST SERVES AND FACEBOOK,

EVERYONE IS ALWAYS COMPARING I

HAVE THIS AND YOU HAVE THAT AND

THEY'RE TRYING TO USE Ns OF

1s AND STORIES TO MAKE

DECISIONS WHETHER TO HAVE THIS

TREATMENT OR THAT TREATMENT.

AND THIS WE HOPE AS BEGINS TO

AGGREGATE MORE INFORMATION GIVES

INDIVIDUALS THE OPPORTUNITY TO

SAY 150 PEOPLE HAD THIS, AND TWO

HAD THAT.

THAT TWO IS A SMALL NUMBER SO

MAYBE I SHOULD BE LOOKING AT THE

MORE GENERAL TRENDS.

THEN COMING THIS YEAR TOO WE

FINISHED A PILOT WE HOPE TO TAKE

FURTHER, MATCHING GENOMES SO

UNDIAGNOSED INDIVIDUALS OFTEN

HAVE AN  EXOME OR A GENOME.

AND RIGHT NOW GENETICISTS AROUND

THE WORLD ARE TRYING TO MATCH

THOSE EXOMES, OH, YOU HAVE GOT A

KID IN ITALY WITH THESE THREE

SYMPTOMS AND A DELETION HERE,

MAYBE THAT MATCHES MY KID.

AND NOW WE BELIEVE THAT IF

PARENTS WERE DOING THIS WORK

AROUND THE CLOCK, PARENTS WOULD

CHURN THROUGH THIS STUFF IN NO

TIME COMPARED TO THE VERY SMALL

NUMBER OF GENETICISTS AND OTHER

SPECIALS THAT ARE AVAILABLE TO

DO THAT.

IT'S GOOD TO GET THIS

INFORMATION TOGETHER.

IT'S JUST A TOOL.

WHATEVER TOOL YOU USE, WHO

CARES.

WE REALLY MUCH MORE CARE ABOUT

WHAT GETS DONE WITH THIS STUFF.

AND WE'RE WORKING IN A UNIQUE

PROJECT AS PART OF OUR COMMUNITY

ENGAGED NETWORK FOR ALL A COUPLE

OF YOU HERE PART OF THAT, PART

OF THIS PCORNET PROCESS TO SEE

HOW WILL PEOPLE ASK RESEARCH

QUESTIONS IN A WAY THAT ENGAGE

IT IS RESEARCH COMMUNITY AND

GETS INPUT FROM THEM AND BUILDS

A PROTOCOL FIND FUNDING AND

TAKES THE STUDY FORWARD SO THE

PROJECT CALLED MOSAIC SPONSORED

BY UNIVERSITY OF CALIFORNIA SAN

FRANCISCO IS PUTTING THAT

INFORMATION TOGETHER IN A WAY

THAT LETS PEOPLE START TO DECIDE

WHAT ARE THE MOST IMPORTANT

QUESTIONS TO US?

AND HOW ARE WE GOING TO MOVE

THOSE QUESTIONS FORWARD?

AGAIN, ALL OF THAT IS USEFUL BUT

IT'S WITHIN THE CONTEXT OF A

LARGER SYSTEM.

AND WHAT I'M SHOWING YOU IN THE

NEXT FEW SLIDES IS SOMETHING

CALLED NETS, NAVIGATING THE

ECOSYSTEM OF TRANSLATIONAL

SCIENCE.

WHEN I ENTERED THIS FIELD WITH

MASTERS IN RELIGIOUS STUDIES I

CAN TELL YOU THINGS ABOUT THE

BIBLE, ABOUT VARIOUS WORLD

RELIGIONS, MEDITATION, I

COULDN'T TELL YOU AS MY HUSBAND

SAYS A GENE FROM A HUB CAP.

THEY WERE NOT IN MY VOCABULARY,

THEY WERE NOT AT ALL SOMETHING I

CAN UNDERSTAND.

WE BEGIN TO BUILD MAPS OF HOW DO

WE GET THROUGH THESE SYSTEMS AND

WE BEGIN TO UNDERSTAND THAT YOU

DON'T STAND AROUND LIKE TAING A

TICKET FROM THE DELI COUNTER

HOPING SOMEBODY WILL GET TO THE

Ps AND DO SUE SEW ZANTHOMA

ELASTICUM RIGHT.

THAT'S NOT GOING TO HAPPEN.

WE NEED THE FIGURE WHERE ARE WE

AND HOW WE GET TO WHERE WE WANT

TO

>> AND WE DON'T HAVE TO WAIT

WHILE WE THINK WE NEED FDA TO

SAY THAT OR DRUG COMPANY TO COME

WITH MOLECULE X.

THERE'S A LOT WE CAN BE DOING

AHEAD OF TIME.

SO WE PUT THIS MAP TOGETHER ON

GENETIC ALLIANCE WEBSITE MORE

RECENTLY HAS BEEN ADOPTED BY THE

INSTITUTE OF MEDICINE CALLED

NATIONAL ACADEMIES OF MED

DIDN'T, CHRIS AUSTIN LED A GROUP

THAT UPDATED IT THAT ALLOWED

ADVOCACY GROUPS AND OTHERS FIND

OUT WHERE THEY ARE AND WHERE

THEY NEED TO GO.

WHICH NEIGHBORHOOD AM I IN?

AROUND BASIC SCIENCE?

AROUND CLINICAL SCIENCE, AM I IN

A NEIGHBORHOOD IN THE REGULATORY

LANDSCAPE, ET CETERA.

SO THESE -- CHRIS TOLD ME I HAD

MORE TIME.

THESE ESSENTIALLY HAVE ALLOWED

ADVOCACY GROUPS TO ADD RESOURCES

IN A REALLY CROWD SOURCING KIND

OF WAY.

AND AGAIN, THEY'RE AVAILABLE ON

GENETIC ALLIANCE WEBSITE.

DISEASE INFO SEARCH JUST BECAME

A NEWLY RENOVATED REGION.

TO GET INFORMATION ON ANY 10,000

DISEASES AN SUBTYPES

DISEASEINFOSEARCH.ORG A NEW LOOK

AND FEEL.

WE HAVE ADVOCACY FROM THE DAY

YOUR KID DIAGNOSED TO BECOMING

ADVOCATED.

WE HAVE A NEW ENDEAVOR CALLED

EXPECTING HEALTH, HOUSING OUR

NATION NEWBORN SCREENING

CLEARINGHOUSE BABIES FIRST TEST,

EVERY STATE TESTS DIFFERENTLY,

THIS SHOWS ALL 50 STATES AND

TERRITORIES AND WHAT THEY'RE

DOING.

WE HAVE ANOTHER EDUCATIONAL

WEBSITE CALLED GENES AN LIFE AND

WE STILL CONTINUE TO WORK ON

FAMILY HEALTH HISTORY ONE OF THE

BEST TO GET THIS INFORMATION

TOGETHER AND BRING T TO IT THE

FAMILY AND THERE'S MY CONTACT

INFORMATION.

THANKS VERY MUCH.

[APPLAUSE]

ONE ANNOUNCEMENT ABOUT OUR FINAL

SPEAKER.

DR. COLLINS, FOR DR. COLLINS

THIS IS SUCH AN IMPORTANT DAY

THAT WE HAVE DETERMINED HE IS

CURRENTLY HAS LANDED AT REAGAN

AIRPORT, HAS BEEN SPOTTED BY OUR

HELICOPTERS TO BE ON THE GW

PARKWAY AND WE HAVE IT ON GOOD

AUTHORITY THAT HE IS BROKEN AT

LEAST SEVEN STATE LAWS SO FAR.

GETTING HERE.

BUT HE SHOULD BE HERE ACTUALLY

RIGHT ON TIME.

SO NOW I HAVE THE HONOR OF

INTRODUCING REPRESENTATIVE

LEONARD LANCE FROM NEW JERSEY.

REPRESENTATIVE LANCE REPRESENTS

NEW JERSEY'S 7TH DISTRICT WHERE

HE IS CURRENTLY SERVING HIS

FIFTH TERM.

HE IS A MEMBER OF THE HOUSE

ENERGY AND COMMERCE COMMITTEE.

AND IS HEALTH SUBCOMMITTEE WITH

JURISDICTION OVER NIH AND

RECENTLY PASSED RESPONSIBLE FOR

THE PASSING OF THE 21st

CENTURY CURES ACT.

I WANTED TO GIVE A ROUND OF

APPLAUSE.

THERE YOU GO.

[APPLAUSE]

>> FOR ALL HIS WORK ON THAT.

I THINK HE'LL HAVE A FEW

COMMENTS FOR US ON THIS.

IMPORTANTLY FOR THIS GROUP

CONGRESSMAN LANCE SERVES AS ONE

OF THE FOUR CO-CHAIRS OF THE

RARE DISEASE CONGRESSIONAL

CAUCUS.

HE HAS BEEN AN ABSOLUTELY

STAUNCH ADVOCATE AND ENCOURAGER

OF OUR WORK, HAS COME TO THE

LAST MANY RARE DISEASE DAY

CELEBRATIONS.

WE HAVE HERE AT NIH.

BOTH TO PAY TRIBUTE TO THE WORK

THAT YOU ALL DO AND TO ENCOURAGE

US IN OUR MISSION.

WE'RE REALLY GRATEFUL FOR HIM

DOING THAT TODAY AS WELL.

WITH THAT IT'S MY PRIVILEGE TO

INTRODUCE CONGRESSMAN LANCE.  

[APPLAUSE]

>> THANK YOU, CHRIS, GOOD

AFTERNOON TO Y'ALL, IT'S A

PLEASURE TO BE INVITED TO BE

WITH YOU.

DR. AUSTIN AND COLLEAGUES DO A

TERRIFIC WORK HERE.

I'M HONORED TO BE ABLE TO WORK

WITH DR. COLLINS AND MY WIFE WHO

JOINS ME THIS AFTERNOON AND I

ARE PRIVILEGED TO KNOW THE

COLLINS.

DR. COLLINS AND HIS WONDERFUL

WIFE DIANE BAKER AND THANK YOU

FOR INVITING ME TO BE WITH YOU

AGAIN THIS YEAR.

I TRY TO ATTEND THIS EVENT EVERY

YEAR AND LADIES AND GENTLEMEN,

IT'S ALWAYS PLEASING TO BE

INVITED BACK SOMEPLACE.

I THINK THAT'S A GOOD THING.

THIS HAS BEEN A TERRIFIC YEAR IN

OUR FIGHT TOGETHER.

REGARDING BRINGING CURES TO

MARKET IN THE RARE DISEASES THAT

EXIST.

A YEAR AGO WE WERE WORKING ON

CAPITOL HILL TO MAKE SURE THAT

21st CENTURY CURES WOULD

BECOME LAW.

I DO HAVE THE HONOR OF SERVING

ON THE COMMITTEE OF JURIES DID I

RECOLLECT, IT'S THE COMMERCE

COMMITTEE, THE OLDEST COMMITTEE

IN THE HOUSE OF REPRESENTATIVES,

IT WAS FIRST ESTABLISHED IN

1795.

WHEN I WAS A SMALL CHILD.

IT'S HAD SEVERAL CONFIGURATIONS

WE'RE NOW CALLED ENERGY AND

COMMERCE BUT IT DEALS WITH THE

COMMERCE OF THE UNITED STATES. 

IT'S ONE OF TWO SUPER A

COMMITTEES IN THE HOUSE, NOT BY

MY DESIGNATION BUT COMMON -- THE

OTHER IS WAYS AND MEANS

COMMITTEE DEALING WITH TAXATION.

YOU CAN'T BE ON BOTH AND MOST

ARE ON NEITHER AND THE REASON I

SERVE ON THE COMMERCE COMMITTEE

IS BECAUSE THE DISTRICT IN NEW

JERSEY THAT HAS DONE ME THE

HONOR OF ELECTING ME HAS MORE

PHARMACEUTICAL AND MEDICAL

DEVICE EMPLOYEES THAN ANY OTHER

DISTRICT IN THE UNITED STATES

AND A GREAT DEAL OF TELECOM AND

THOSE ARE AREAS OF JURISDICTION

FOR THE COMMITTEE.

IT HAS SIX SUBCOMMITTEES AND I

THINK THE MOST IMPORTANT FOR ALL

OF US IN THIS ROOM, IS THE

HEALTH SUBCOMMITTEE.

THE HEALTH SUBCOMMITTEE IS

CHAIRED BY DR. MICHAEL BURGESS

OF TEXAS.

A MEDICAL DOCTOR.

HE'S JUST BECOME THE CHAIR OF

THE HEALTH SUBCOMMITTEE.

AND THAT IS ONE OF THE

SUBCOMMITTEES ON WHICH I SERVE.

IN PASSING 21 CENTURY CURES LAST

YEAR, A PASSED OUT OF OUR

COMMITTEE UNANIMOUSLY.

ALL REPUBLICANS AN DEMOCRATS

VOTED FOR IT AND THERE'S NOT AS

MUCH PUBLICITY TO THAT AS AREAS

OF CONTENTION ON CAPITOL HILL.

BECAUSE MAYBE IT'S NOT AS SEXY.

MAYBE YOU DON'T HEAR ABOUT IT ON

FOX OR MSNBC OR CNN.

THIS IS A PIECE OF LEGISLATION

UNANIMOUSLY REPORTED FROM THE

COMMITTEE, PASSD ON THE FLOOR OF

THE HOUSE WITH MORE THAN 330

VOTES.  AND WAS EQUALLY BY

PARTISAN ACROSS THE CAPITAL --

BIPARTISAN IN THE UNITED STATES

SENATE, BIPARTISAN AND

BICAMERAL.

WE WORK CLOSELY WITH THE WHITE

HOUSE AND WITH THE SECRETARY OF

HEALTH AND HUMAN SERVICES THEN

SECRETARY BURWELL ON THIS ISSUE.

AND IT IS I THINK LAND MARK

LEGISLATION THE CONGRESS

ADJOURNED MAJOR PIECE OF

LEGISLATION TO PASS THE

114th CONGRESS.

NOW THAT IT HAS BEEN SIGNED INTO

LAW, NIH IS TAKING STEPS TOWARD

IMPLEMENTATION.

I CONGRATULATE ALL OF THE

PROFESSIONALS HERE AT NIH FOR

BEING INVOLVED IN THIS.

WE IN CONGRESS ARE BEGINNING THE

APPROPRIATIONS PROCES TO MATCH

PROGRESS, LADIES AND GENTLEMEN,

WITH RESEARCH FUNDS.

[APPLAUSE]

PRESIDENT COMES TO CAPITOL HILL

TOMORROW.

FIRST TIME HE WILL BE ADDRESSING

US, TECHNICALLY THE FIRST YEAR

IN OFFICE IT'S NOT A STATE OF

THE UNION I DON'T KNOW ADDRESS

BUT IT IS THE -- THE STATE OF

THE UNION ADDRESS, BUT

EQUIVALENT OF IT AND I ASSUME

THE PRESIDENT WILL BE DISCUSSING

HIS BUDGET PRIORITY, A BUDGET

DOCUMENT ON CAPITOL HILL IS A

BLUEPRINT AS THE HOW TO MOVE

FORWARD BUT THE ACTUAL A

APPROPRIATIONS OF FUNDS COMES

FROM THE APPROPRIATIONS PROCESS,

APPROPRIATIONS COMMITTEE IS

CHAIRED BY MY CLOSEST NEIGHBOR

IN NEW JERSEY AND AMONG MY

CLOSEST FRIENDS IN CONGRESS,

CONGRESSMAN FEELING HIGH SEN AND

THAT APPROPRIATIONS PROCESS WILL

DETERMINE LEVELS OF FUNDING.

RARE DISEASE DAY THIS YEAR

SHOULD INCLUDE CELEBRATION AND

CONGRATULATIONS FOR THE GREAT

PROGRESS THAT'S BEEN MADE.

AND LET ME SUGGEST THAT THIS IS

BECAUSE OF YOU AND THE EFFORTS

OF YOUR ORGANIZATIONS, LADIES

AND GENTLEMEN.

THANK YOU FOR WHAT YOU HAVE DONE

TO MAKE ALL OF THIS POSSIBLE.

[APPLAUSE]

I HAVE BEEN WITH MANY OF YOU

BEFORE.

TO THOSE WHO ARE NEW THIS YEAR,

HI AM THE REPUBLICAN CHAIR OF

THE CONGRESSIONAL RARE DISEASE

CAUCUS IN THE HOUSE.

CONGRESSMAN CROWLEY IS

DEMOCRATIC CHAIR.

ONLY TROUBLE WITH HIM IS QUEENS

IN NEW YORK AND NOT NEW JERSEY

RESIDENT.  I CONSIDER IT AN

IMPORTANT RESPONSIBILITY AND I

BECAME THE CHAIR OF THE RARE

DISEASE CAUCUS FOUR OR FIVE

YEARS AGO WHEN THAT POSITION WAS

VACATED BY FRED UPTON OF

MICHIGAN WHO HAD BEEN CHAIRMAN

OF THE ENERGY COMMERCE COMMITTEE

AND IF THERE'S ONE SINGLE MEMBER

OF CONGRESS WHO EPITOMIZE IT IS

WORK, IT IS CHAIR MAN EMERITUS

FRED UPTON OF MICHIGAN WHO DID

OWEMAN'S WORK TO GET THIS OVER

THE FINISH LINE.

PLEASE JOIN ME IN THANKING FRED

UPTON OF MICHIGAN.

[APPLAUSE]

I TRY TO USE MY POSITION ON THE

HEALTH SUBCOMMITTEE TO EDUCATE

COLLEAGUES ON CAPITOL HILL ON

THE FINE WORK ALL OF YOU ARE

DOING AND PROMOTE LEGISLATION

THAT WILL CONTINUE TO STRENGTHEN

CAUSE AND PATIENT CARE AT THE

FOREFRONT OF EVERY DEBATE.

THIS COLLABORATIVE PROCESS I

THINK IS WORKING.

THE IDEAS AND TESTIMONY OF

PEOPLE IN THIS ROOM HELPED SHAPE

LEGISLATION.

THE PERSONAL STORIES AND THE

KEEN INSIGHTS OF PATIENTS, OF

ADVOCATES AND OF OS DEDICATED TO

PATIENT CARE, FACTORED GREATLY

IN THE FINAL LEGISLATIVE

PRODUCT.

THE LEGISLATION PROVIDES THE

NATIONAL INSTITUTES OF HEALTH

WITH $4.8 BILLION OVER TEN YEARS

IN NEW FUNDING.

WHICH WILL ADVANCE PRECISION

MEDICINE INITIATIVE THE KAREN

MOON SHOT AND BRAIN INITIATIVES.

THIS IS AN ENORMOUS INCREASE OF

FUNDING.

AND DR. COLLINS AND HIS

COLLEAGUES HAVE BEEN

INSTRUMENTAL IN ADVOCATING FOR

THIS ON CAPITOL HILL.

THE LEGISLATION PROVIDES FOOD

AND DRUG ADMINISTRATION WITH

$500 MILLION OVER TEN YEARS.

FOR REGULATORY MODERNIZATION AND

GIVES THE AGENCY THE ABILITY TO

RECRUIT AND RETAIN THE BEST

TALENT AVAILABLE.

THE IMPLEMENTATION OF THE ACT

WILL BEGIN THROUGH

APPROPRIATIONS PROCESS AND

AGENCY REGULATORY PROCESSES THIS

YEAR.

GIVEN THE SCALE AND SIGNIFICANCE

OF THE 21st CENTURY CURES

ACT, IMPLEMENTATION WILL BE AN

ONGOING PROCESS FOR NUMBER OF

YEARS.

THAT WILL REQUIRE CONGRESSIONAL

OVERSIGHT TO ENSURE THAT THE

BILL ACCOMPLISHES THE GOALS SET

OUT BY THE CONGRESS.

THAT IS AMONG THE SEVERAL

REASONS WHY IT'S SO VERY

IMPORTANT FOR YOU TO LOBBY US

AND TO LOBBY US AS YOU DO THIS

WEEK, AS YOU ARE IN WASHINGTON,

BUT ALSO WHEN WE'RE IN OUR

DISTRICTS ACROSS AMERICA.

I HAVE ADVOCATES COME INTO MY

DISTRICT OFFICES IN NEW JERSEY

AND I AM SURE MANY OF YOU GO

INTO THE DISTRICT OFFICES OF

YOUR MEMBER OF THE HOUSE AND OF

YOUR TWO UNITED STATES SENATORS

AND I ENCOURAGE YOU TO DO THAT.

WE LIKE TO SEE FRIENDLY FACES

HERE ON CAPITOL HILL.

WE ALSO LIKE TO SEE FRIENDLY

FACES WHEN WE'RE BACK IN OUR

DISTRICTS ACROSS AMERICA.

WE HAVE JUST COMPLETED DISTRICT

WORK WEEK AND CERTAINLY IN MY

RESPONSIBILITIES DURING DISTRICT

WORK WEEK THERE WERE SEVERAL

ADVOCATES WHO CAME INTO MY LOCAL

OFFICE BACK IN NEW JERSEY.

AND WE WILL BE IN SESSION NOW

FOR SIX WEEKS UNTIL WE GO BACK

FOR THE EASTER BREAK.

BUT PLEASE, MAKE AN APPOINTMENT

WITH YOUR MEMBER OF CONGRESS IN

THE HOUSE AND WITH YOUR TWO U.S.

SENATORS IN YOUR -- IN THE

STATES ACROSS AMERICA, IT'S SO

VERY IMPORTANT WE INTERACT WITH

CONSTITUENTS.

YOUR STORIES HAVE MATTERED.

YOUR NUMBERS HAVE BEEN COUNTED.

AND YOUR IDEAS HAVE BEEN HEARD.

HEARING FROM MANY ADVOCATES

THOSE HERE IN WASHINGTON AND

THOSE ACROSS THE NATION, GIVES

THE MEMBERS OF THE RARE DISEASE

CAUCUS RENEWED ENERGY AND

PURPOSE.

EVENTS HELD AROUND RARE DISEASE

DAY HIGHLIGHT WHAT HAS BEEN

ACCOMPLISHED AND WHAT STILL

NEEDS TO BE DONE.

THERE'S A LOT OF WORK TO DO.

LET'S NOT REST ON OUR LAURELS,

LADIES AND GENTLEMEN.

MUCH MORE WORK NEEDS TO BE DONE.

WE ARE GOING TO BE DOING IT

TOGETHER.

THIS IS HOW THE PROCESS IS

SUPPOSED TO WORK.

REPUBLICANS AND DEMOCRATS AND

INDEPENDENTS WORKING TOWARD THE

BETTER HEALTH OF MILLIONS OF

PEOPLE.

NOT ONLY THE BETTER HEALTH OF

MILLIONS OF PEOPLE HERE IN THE

UNITED STATES BUT BASED UPON OUR

WORK TOGETHER, BASED UPON THE

WONDERFUL WORK HERE AT NIH, WE

AFFECT BETTER HEALTH OF

POPULATIONS ACROSS THE GLOBE.

GREAT LEADERS LIKE DR. COLLINS,

AND OTHER, DR. AUSTIN, AND THE

WHOLE TEAM OVERSEE SOME OF OUR

NATIONS MOST IMPORTANT FEDERAL

ASSETS MANY IN THIS AUDITORIUM

IS DROP BY COST OF CARE OF A

LOVED ONE.  YOU SHOULD BE PROUD

OF YOUR WORK.

YOUR WORK HERE HERE AND ACROSS

THE COUNTRY.

WHEN POLICY MAKERS SEE GREAT

PASSION AND PERSISTENCE, THE

MESSAGE RESONATES.

MOMENTUM BUILDS AND THE WHEELS

OF THE LEGISLATIVE PROCESS MOVE.

21st CENTURY CURES CROSS THE

FINISH LINE BECAUSE OF YOU.

PLEASE KEEP MAKING A DIFFERENCE.

WHEN YOU RETURN HOME ASK YOUR

NETWORK TO LOBBY AND URGE

CO-SPONSORSHIP OF IMPORTANT

PIECES OF LEGISLATION.  

POLLUTION CREASE YOUR PERSONAL

MEGA PHONE AND BULLY PULPIT TO

TELL THOSE WHO MAY NOT HAVE THE

GREATEST FAITH IN THE

LEGISLATIVE PROCESS, THAT GOOD

WORK IS HAPPENING AND THAT WE

HAVE MUCH WORK YET TO DO.

I KNOW, LADIES AND GENTLEMEN, WE

LIVE IN A TIME OF CHALLENGE AND

PERHAPS A TIME OF CYNICISM

REGARDING PUBLIC OFFICIALS.

I CAN UNDERSTAND THAT.

BUT FROM MY PERSPECTIVE THERE IS

NO ONE ON CAPITOL HILL WHO

DOESN'T WANT THERE TO BE

PROGRESS SIGNIFICANT PROGRESS ON

RARE DISEASES.

THERE IS NO ONE ON CAPITOL HILL

WHO VIEWS THIS IN THE CONTEXT OF

A POLITICAL PARTY.

THERE IS NO ONE ON CAPITAL HILL

WHO DOES NOT HAVE CONSTITUENTS

WHO FACE THESE ENORMOUS

CHALLENGES.

I HOPE MANY OF YOU WILL VISIT

WITH ME AND MY OFFICE THIS WEEK.

I HOPE THAT YOU WILL CONTINUE

YOUR GOOD WORK.

I HOPE YOU WILL RETURN TO YOUR

COMMUNITIES ACROSS AMERICA

REINVIGORATED BASED UPON YOUR

VISIT HERE IN OUR NATION'S

CAPITOL, REINVIGORATED BASED

UPON YOUR VISIT HERE AT IF,NAL

INSTITUTES -- NATIONAL

INSTITUTES OF HEALTH, THE

PREMIER ORGANIZATION OF ITS KIND

NOT ONLY IN THIS COUNTRY BUT

ACROSS THE GLOBE AND

REINVIGORATED IN THE WORK YOU DO

FOR THE PATIENTS WHOM YOU LOVE

AND REINVIGORATED IN THE HOPE

AND PROMISE OF THE AMERICAN

NATION.

THANK YOU VERY MUCH.

LADIES AND GENTLEMEN.

[APPLAUSE]

>> WOW.

THANK YOU, CONGRESSMAN LANCE.

THAT WAS A WONDERFUL MESSAGE

THAT I HOPE ALL OF US HAVE TAKEN

TO HEART.

THANK YOU AGAIN SO MUCH FOR

BEING HERE.

FRESH OFF A SERIES OF SPEEDING

TICKETS OUR LAST SPEAKER OF THE

DAY IS HERE, I DON'T THINK HE

NEEDS ANY INTRODUCTION SO I'M

NOT GOING TO GIVE HIM ONE.

DR. COLLINS.

[APPLAUSE]

>> HAVE YOU EVER HAD ONE OF

THOSE DAYS WHERE YOU WALK INTO

THE AIRPORT, IT'S A BEAUTIFUL

SUNNY DAY AND YOU GOT LOTS OF

TIME AND YOU'RE GOING TO HAVE NO

TROUBLE MAKING IT TO A MEETING

THAT YOU CARE ABOUT AND YOU LOOK

ON THE MONITORS ABOUT EVERYTHING

SAYS ON TIME ON TIME ON TIME

THEN THERE'S ONE FLIGHT.

OUT OF ABOUT 49 THAT IS TWO

HOURS DELAYED.

THAT'S ALWAYS MINE AND IT

HAPPENED AGAIN.

I AM GLAD TO GET HERE AT LAST

MINUTE WITH MY WIFE DIANE WHO

HAS JUST ARRIVED ALSO WITH ME

BOTH WITH OUR KNUCKLES A LITTLE

WHITE AFTER THE DASH UP THE

PARKWAY AND AROUND THE BELT WAY.

BUT DID NOT WANT TO MISS THE

CHANCE TO AT LEAST SAY A FEW

WORDS TO ALL OF YOU AT THE CLOSE

OF WHAT I HEAR HAS BEEN A

WONDERFUL DAY.

I SOMETIMES DO GET ASKED TO

SUMMARIZE MEETINGS I HAVE NOT

ATTENDED BUT I DON'T THINK IT'S

-- IT'S NEVER BEEN QUITE AS

DRAMATIC AS THIS.

HAPPY THAT I DID HAVE THE CHANCE

THANKS TO STEVEN TO GET SOME

SNAP SHOTS OF WHAT'S BEEN GOING

ON ALL DAY, SO HE'S BEEN E MALE

ME PANNED SOUNDS LIKE IT'S A

WONDERFUL DAY WITH A BROAD

DIVERSITY OF PERSPECTIVES AND

INSPIRING COMMENTS FROM ALL OF

YOU.

I'M REALLY GLAD ACTUALLY ALSO

THAT I AM ABLE TO BELIEVE HERE

ON FEBRUARY 27th, FOR THIS

RARE DISEASE DAY, AS NIH

DIRECTOR, THAT WASN'T

NECESSARILY GOING TO BE THE CASE

A FEW MONTHS AGO.

AS YOU MAY KNOW I'M APPOINTED BY

PRESIDENTS AND SO WHEN

JANUARY 20th CAME AROUND I

EXPECTED I WOULD STEP ASIDE AND

SOMEBODY ELSE WOULD BE DOING

THIS SUMMATION FOR YOU.

AND I SAID IN MY -- SENT MY

LETTER OF RESIGNATION AND A DAY

OR SO BEFORE JANUARY 20th I

GOT A NOTE SAYING YOUR LETTER

HAS NOT BEEN ACCEPTED.  THERE

WERE STRONG SUGGESTIONS IT MIGHT

HAVE BEEN THE GRAMMAR BUT I

DON'T THINK THAT WAS IT.

IT WAS ONLY TWO SENTENCES AND MY

PENMANSHIP IS NOT THAT BAD.

WELL, SO I AM GRATEFUL INDEED TO

BE HELD OVER WHICH IS THE TERM

OF ART HERE AS THE NIH DIRECTOR

AND NOW TO SERVE IN THIS NEW

ADMINISTRATION AND I AM JUST AS

EXCITED AND MOTIVATED ADS EVER.

TO SEE HOW BIOMEDICAL RESEARCH

CAN GO FORWARD IN THIS ERA

RECOGNIZING AS WE ALL DO THAT

THESE ARE TUMULTUOUS TIMES BUT

AS CONGRESSMAN LANCE OUTLINED

FOR YOU, MEDICAL RESEARCH IN

GENERAL AND RARE DISEASE IN

PARTICULAR IS NOT A PARTISAN

ISSUE.

IT'S NOT AN ISSUE WHICH

POLARIZES PEOPLE, IT BRINGS

PEOPLE TOGETHER.

IT'S BROUGHT ALL OF YOU

TOGETHER.

PAUSE PLUS

[APPLAUSE]

>> AND THEY'RE 25 MILLION IN THE

UNITED STATES WHO ARE IN THE

CIRCUMSTANCE OF HAVING A RARE

DISEASE AND MANY OTHERS WHO

PROBABLY DO AND DON'T KNOW IT

YET.

REFLECTING DRIVING HERE WHEN I

STARTED WORKING IN HUMAN GENETIC

DISEASE I THOUGHT THIS WAS

SOMETHING THAT WOULD HAPPEN IN

OTHER FAMILIES BUT IN MY OWN

FAMILY IN THE SPACE OF THOSE 30

YEARS WE HAVE HAD INSTANCES

WHERE CYSTIC FIBROSIS SCREENING

SUDDENLY BECAME A SOURCE OF

GREAT AGE ZOOTY IN FAMILY, WE

HAVE HAD A BRCA 1 AND 2 MUTATION

IN ANOTHER BRANCH OF THE FAMILY.

FRIEND A DOMINANT DISORDER

CALLED SARCOMARE TOOTH.

ALL THOSE ARE PEOPLE I'M CLOSE

TO, SO THE IDEA THEY'RE IF FOR

SOMEBODY ELSE AND MY OWN

EXPERIENCE AND YOURS ARE NOT THE

CASE.

AS PEOPLE ARE FINDING MORE ABOUT

THAT THERE'S SUPPORT FOR --

THEIR SUPPORT IS GROWING.

BUT WE NEED TO BE OUT THERE

MAKING THE CASE THAT THIS IS AN

OPPORTUNITY THAT THESE ARE NOT

CIRCUMSTANCES WHERE ONE SHOULD

SAY WELL, THEY'RE RARE AND

THERE'S NOT MUCH WE CAN DO.

THERE'S A LOT WE CAN DO AS YOU

KNOW.

ALL THOSE DISORDERS, THE

THOUSANDS OF THEM WHICH WE KNOW

ARE CAUSED BUT DO NOT YET

UNDERSTAND HOW TO TREAT THEM,

ARE ONE OF THE HIGHEST

PRIORITIES THAT WE CAN POSSIBLY

HAVE IN BIOMEDICAL RESEARCH AND

FOR ME AT NIH THAT IS ONE OF THE

THINGS THAT IN ENLIVENS

EVERYTHING WE DO AND INSPIRES US

FURTHER AND FASTER AND TAKE

ADVANTAGE OF THE TECHNOLOGIES

THAT ARE BEING INVENTED RIGHT

AND LEFT TO SPEED UP THAT

PROCESS OF DISCOVERY ULTIMATELY

LEADING UP TO TREATMENT.

YOU HAVE HEARD ABOUT THAT FROM

MANY PEOPLE HERE TODAY AND I

WON'T REPEAT THAT.

MAYBE I WILL JUST SAY A WORD

THOUGH ABOUT MY OWN LAB'S

PERSONAL EXPERIENCE BECAUSE

THAT'S OFTEN WHAT SCIENTISTS

THINK ABOUT AT TIMES LIKE THIS.

MY LAB WORKS ON THREE DIFFERENT

GENETIC DISEASES THAT ARE ALL

RARE.

ONE IS A CERTAIN TYPE OF

DIABETES THAT'S INHERITED IN A

VERY GENETIC FASHION AND AFFECTS

INFANTS.

DIABETES BEFORE YOU'RE SIX

MONTHS OLD.

CAN YOU IMAGINE THAT?

THERE ARE CASES OF THAT SORT,

WE'RE TRYING TO SORT THEM OUT,

THEY'RE INCREASINGLY TREATABLE.

ANOTHER IS A DEVELOPMENTAL

DISORDER WHICH WE'RE DOING AS

COLLABORATION WITH INVESTIGATORS

IN NEW YORK AND BOSTON AND NOW

BROUGHT MANY FAMILIES HERE TO

THIS CLINICAL CENTER TO DETAILED

EVALUATION AND LEARNED MANY

EXCITING NEW THINGS ABOUT THIS

CONDITION WHICH HAD BEEN NOT A

SUBJECT OF MUCH ATTENTION UNTIL

NOW.

THEN THE MOST DRAMATIC FORM OF

PREMATURE AFFECT OF AGING HUDSON

PROJURORIA SYNDROME WHICH MY LAB

HAS STUDIED 17 YEAR NOW,

DISCOVERING ARE CAUSE IN 2003,

BEING ABLE TOM CONTRIBUTE TO THE

START OF A CLINICAL TRIAL IN

FOUR YEARS, HAVING CHILDREN COME

HERE TO THE CLINICAL CENTER FOR

DETAILED EVALUATION OF A VERY

RARE DISEASE FOR WHICH WE ONLY

KNOW ABOUT 200 KIDS IN THE WORLD

THAT HAVE THIS DISEASE RIGHT

NOW.

AND JUST IN THE LAST THREE

MONTHS, STARTING A SECOND

CLINICAL TRIAL, AFTER

CELEBRATING THE FIRST CLINICAL

TRIAL PROLONGED SURVIVAL, WE

WANT TO DO BETTER.

NOW AGAIN USING THE REPURPOSING

ARGUMENT FINDING DRUGS THAT WERE

ALREADY APPROVED FOR SOMETHING

ELSE BUT HAD THE RIGHT

PROPERTIES IN TERMS OF OUR

MOLECULAR UNDERSTANDING, WE'RE

NOW MOVING TO THIS NEXT PHASE.

AND MY HOPE AND DREAM IS THAT

THESE CHILDREN WHOSE SITUATION

IS DRAMATICALLY INSPIRING AND

ALSO HEART BREAKING, ARE FOLKS

THAT WE CAN FIGURE OUT HOW TO

HELP.

IF YOU HAVE EVER SEEN THAT

WONDERFUL HBO SPECIAL CALLED

LIFE ACCORDING TO SAM, SAM

BURNS, AFFECTED WITH PRO JEERIA

AND WHO WE LOST I'M SAD TO SAY A

COUPLE OF YEARS AGO TELLING THE

STORY WHAT IT'S LIKE TO LIVE

WITH THAT DISEASE, THAT DATA

DOES NOT DEFINE HIM ANY MORE

THAN ANY OTHER INDIVIDUALS THAT

Y'ALL CARE ABOUT ARE DEFIND BY

THEIR DISEASE.

BUT THEY ARE IN FACT WAITING FOR

US TO HELP THEM MOVE FORWARD,

RIDES ABOVE THAT DISEASE TO

BECOME EVERYTHING THEY DREAM

WANT TO BE AND WE WANT THEM TO

BE.

SO THAT KIND OF ADVANCE IN

PROGERIA, AS A EXAMPLE OF THE

KIND OF THINGS WE WANT TO DO

LOTS AND LOTS OF AND ARE DOING

LOTS OF, WOULD NOT HAVE HAPPENED

WITHOUT GOVERNMENT SUPPORT

INTRAMURAL AND EXTRAMURAL.

WITHOUT A FOUNDATION.

THE PROGERIA RESEARCH

FOUNDATION, ADVOCACY

ORGANIZATION, RAISED MONEY FOR

CLINICAL TRIALS.

WITHOUT COMPANIES.

AMERICA AND NOVARTIS -- MERCK

AND NOVARTIS MADE COMPOUNDS

AVAILABLE RECOGNIZING THERE

MIGHT BE CIRCUMSTANCES NOT

LIKELY TO MAKE MUCH IN THE WAY

OF FINANCIAL RETURN BUT IT WAS

THE RIGHT THING TO DO.

INTERNATIONAL AS WELL.

YOU HEARD CHRIS AUSTIN, IS

INCREASINGLY IMPORTANT FOR US TO

THINK ABOUT THESE THINGS IN

INTERNATIONAL TERMS BECAUSE RARE

DISEASES KNOW NO BOUNDARIES

ACROSS COUNTRIES.

SO IT'S ANOTHER WAY OF THINKING

ABOUT THIS CIRCUMSTANCE THAT I

GUESS AFFECTS ME BUT I DON'T

MEAN TO BE OVERLY FOCUSED ON A

PARTICULAR DISEASE GOING ON IN A

LAB LABORATORY.

WE'RE PART OF THE TA PESTTRY OF

SCIENTIFIC OPPORTUNITY AND

RESPONSIBILITY.

YET I CAN TELL YOU I HAVE NEVER

SEEN A TIME OF GREATER OPTIMISM,

GREATER ENTHUSIASM, GREATER

POSSIBILITIES TO DEAL WITH RARE

DISEASES THAN RIGHT NOW.

I BELIEVE THE WE GATHER AGAIN IN

YEAR, WE WILL, WE'LL SHOUT ABOUT

ADDITIONAL ADVANCES THAT

HAPPENED IN THAT YEAR TIME

BECAUSE OF THE WAY THIS

ENTERPRISE IS SO READY FOR THOSE

ADVANCES TO HAPPEN AT AN

INCREASINGLY ACCELERATED PACE.

IT IS CERTAINLY AN OPPORTUNITY

TO MAKE THE CASE AS CONGRESSMAN

LANCE WAS SAYING JUST NOW.

FOR THE NEED FOR FEDERAL SUPPORT

FOR THIS AND WE COUNT ON THE

FACT THAT THOSE WHO ARE IN A

POSITION TO DECIDE ABOUT

RESOURCES WILL UNDERSTAND THAT,

MANY OF THEM DO AND PEOPLE LIKE

CONGRESSMAN LANCE WILL BE VERY

IMPORTANT IN MAKING THE CASE FOR

OTHERS BEGINNING THE HEAR IT, WE

CAN ONLY DO THIS WITH MOTIVATION

AN ENERGY THAT WE CAN HAVE

TOGETHER.

THAT'S NOT JUST RESEARCHERS

THOUGH THEY ARE PRETTY

IMPORTANT.

THAT'S VERY MUCH THE ALLIANCE

THAT WE HAVE TO HAVE WITH

PATIENT ADVOCACY ORGANIZATIONS

WITH PARENTS, WITH KIDS AN

ADULTS AFFECTED BY THEN CAN,

WITH BIOTECH COMPANIES AND

INCREASINGLY INTERESTED IN RARE

DISEASES AND PHARMACEUTICAL

COMPANIES AS WELL.

ALL WORKING IN THIS ECOSYSTEM TO

TRY TO COME UP WITH ANSWERS FOR

DISORDERS THAT NEED AND DESERVE

THEM SO IN MY LAST DASH IN HERE

I'M NOT GOING THE KEEP YOU

BECAUSE YOU'RE ALREADY THROUGH A

LONG DAY, I DID WANT TO COME AND

CONGRATULATE ALL OF YOU FOR THE

MOMENTUM THAT HAS BEEN BUILT

THAT WE HAVE DONE TOGETHER.

AND WISH GOD SPEED FOR YEAR 2017

ADS WE ONCE AGAIN CELEBRATE A

RARE DISEASE DAY.

THANK YOU.

[APPLAUSE]

>> IT'S ONLY UP TO ME TO WRAP UP

QUITE A WONDERFUL DAY.

THE REPRESENTATIVE LANCE AND

DR. COLLINS HAVE GIVEN US

PERSPECTIVES WHICH HOPE YOU HAVE

ALL TAKEN SERIOUSLY AND WILL

TAKE HOME WITH YOU, SUMMARIZE

THE DAY AND TOLD YOU OF OUR

COMMITMENT TO YOU.

WE KNOW ABOUT THE COMMITMENT OF

PATIENTS AND THEIR FAMILIES.

BUT PLEASE KNOW HOW COMMITTED

SCIENTISTS ARE AND PHYSICIANS

ARE, EVEN SCIENTISTS WHO WORK ON

ZEBRAFISH YOU MIGHT NOT HAVE

THOUGHT OF BEFORE TODAY WORKING

ON RARE DISEASE BUT THEY DO.

PHYSICIANS WHO YOU MIGHT NOT

HAVE THOUGHT WORK ON RARE

DISEASES LIKE HOLLAND BUT THEY

DO.

FOUNDATIONS LIKE SOME OF THE

ONCE YOU HAVE HEARD ABOUT.

UPLIFTING ATHLETES AND OTHERS

YOU MAY NOT HAVE HEARD ABOUT BUT

THEY DO.

AND THE MANY COMPANIES WHO WORK

IN THIS SPACE AS WELL WHO WE

HEARD LESS FROM TODAY BUT

DR. COLLINS MENTIONED THE FOURTH

LEG OF THE STOOL.

AND I HOPE YOU WILL HARKEN BACK

TO MY COMMENTS AT THE BEGINNING

THAT THIS REALLY IS AND NEEDS TO

BE APPROACH ADS A GLOBAL

EXERCISE.

IT'S THE ONLY WAY WE'RE GOING TO

MAKE THE HEADWAY THAT ALL OF US

WANT AND NEED.

LET ME ISSUE YOU A CHALLENGE

WHICH I MAY HAVE MADE BEFORE BUT

WILL DO IT AGAIN BECAUSE I

CHALLENGE MY OWN CENTER TO DO

THIS AND NOW I HAVE CHALLENGED

-- TO DO THIS, THINK REALLY

AMBITIOUSLY ABOUT THE GOALS WE

HAVE FOR OUR COMMUNITY.

I SAY OUR COMMUNITY BECAUSE

THAT'S WHAT IT IS.

TO INCREASE THE PACE OF

PROGRESS, PRODUCTIVITY OF

DIAGNOSIS AND TREATMENT OF RARE

DISEASES BY FACTOR OF TEN.

TENFOLD.

IT SHOULDN'T TAKE 20 YEARS TO

DEVELOP A NEW THERAPEUTIC, IT

SHOULD TAKE THE TWO.

IT SHOULDN'T TAKE EIGHT YEARS TO

HAVE A DIAGNOSIS WHICH

FREQUENTLY EVEN NOW SOMETIMES

DOES, IT SHOULD TAKE LESS THAN A

YEAR.

IT SHOULD BE POSSIBLE FOR

PATIENTS TO GET ACCESS TO THE

TREATMENTS THAT ARE AVAILABLE

AND THAT SHOULD NOT BE SO HARD

EITHER.

THIS CAN BE DONE T. I'M

CONVINCED IT CAN BE DONE I HAVE

SEEN IT HAPPEN.

BUT IT WILL ONLY HAPPEN WITH

YOU.

WE WANT TO BE YOUR PARTNERS.

WE PERHAPS NERDISH CHARACTERED

LAB RATS WE WANT TO BE YOUR

PARTNERS.

WE FULLY REALIZE THAT WE CAN'T

KNOW THE PROBLEMS TO WORK ON AND

WE CERTAINLY CAN'T MAKE THE

HEADWAY IN THE SPEED THAT WE ALL

WANT TO DO WITHOUT YOU.

WE PUT THIS IN PLACE IN THE

CENTER THAT I RUN AND I HOPE YOU

WILL TAKE BOTH DR. COLLINS AND

REPRESENTATIVE LANCE'S ADVICE TO

HEART AND MY OWN TO REACH OUT TO

US BECAUSE WE FEEL BASH -- DON'T

FEEL BASHFUL, WE WANT TO HEAR

FROM YOU.

S LET ME CLOSE BY THANKING YOU

FOR BEING HERE, YOUR COMMITMENT

TO THIS SPACE.

I'M CONVINCED WE CAN MEET THIS

GOAL OF A TENFOLD IMPROVEMENT

INCREASE IN PRODUCTIVITY

TOGETHER, LOOK FORWARD TO

REACHING OUT WITH YOU NEXT YEAR

ASSESSING OUR PROGRESS AND IN

THE MEANTIME STAY IN TOUCH.

LET'S GET THIS DONE TOGETHER.

THANK YOU.

[APPLAUSE]