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A Pediatrician's Perspective on the Human Genome Project and Genomic Pediatrics

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Air date: Wednesday, December 17, 2008, 3:00:00 PM
Time displayed is Eastern Time, Washington DC Local
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Category: WALS - Wednesday Afternoon Lectures
Runtime: 01:11:23
Description: The Clinic for Special Children was founded in 1989 in Lancaster County Pennsylvania as a place where the knowledge of genetics would be Translated into principles of medical care to help children with inherited disorders. Much of the knowledge of the human genome project was produced in laboratories far from the bedside, ultimately, the Translation of this information into medical practice requires a commitment to care for the patient. The every day practice of medicine is the frontier of Translational Genetics. An understanding, an acceptance, that many common illnesses arise in all people from genetic predispositions, but are nonetheless treatable, may finally be the most important contribution that the Plain Communities, and our Clinic for Special Children, will make to the practice of medicine.

D. Holmes Morton calls himself a country doctor. Yet while his clinic's parking lot is more likely to be filled with horses and buggies than cars, what goes on within his lab is the highest of high-tech.

Morton is the founder and director of the Clinic for Special Children, serving a largely Old Order Amish and Mennonite clientele in Lancaster County, Pennsylvania. The clinic is a non-profit medical and diagnostic service for children with inherited metabolic disorders, which are more common here due to the general practice of marrying only within one's tight-knit community.

From their base surrounded by alfalfa fields in Strasburg, Penn., Morton and his small team treat biochemical disorders such as glutaric aciduria (GA1), maple syrup urine disease (MSUD), Crigler-Najjar syndrome and medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - all told, over 100 different genetic disorders, some never seen before. The mission of the clinic is to advance methods of newborn screening, to improve follow-up services, to develop better diagnostic methods, and to further clinical research in an ongoing effort to improve treatment and outcomes for children who suffer from rare inherited disorders.

The clinic studies how genetic errors alter the growth, structure, and function of the developing brain, relying on clinical examinations, imaging studies, and molecular testing. Through candidate gene analysis and genome-wide mapping studies, Morton's lab can detect about 80 gene mutations found in the "Plain People" populations of Pennsylvania. The ability to accurately and inexpensively diagnose patients in a timely manner through DNA-based testing is invaluable for preventing the devastating effects of many genetic disorders, he said.

A high school drop out from rural West Virginia and a graduate of Harvard Medical School, Morton received the Albert Schweitzer Prize for Humanitarianism in 1993 and was awarded a MacArthur Foundation "genius grant" in 2006.

The NIH Director's Wednesday Afternoon Lecture Series includes weekly scientific talks by some of the top researchers in the biomedical sciences worldwide.
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NLM Title: A pediatrician's perspective on the Human Genome Project and genomic pediatrics [electronic resource] / D. Holmes Morton.
Series: NIH director's Wednesday afternoon lecture series
Author: Morton, D Holmes.
National Institutes of Health (U.S.)
Publisher:
Other Title(s): NIH director's Wednesday afternoon lecture series
Abstract: (CIT): The Clinic for Special Children was founded in 1989 in Lancaster County Pennsylvania as a place where the knowledge of genetics would be Translated into principles of medical care to help children with inherited disorders. Much of the knowledge of the human genome project was produced in laboratories far from the bedside, ultimately, the Translation of this information into medical practice requires a commitment to care for the patient. The every day practice of medicine is the frontier of Translational Genetics. An understanding, an acceptance, that many common illnesses arise in all people from genetic predispositions, but are nonetheless treatable, may finally be the most important contribution that the Plain Communities, and our Clinic for Special Children, will make to the practice of medicine. D. Holmes Morton calls himself a country doctor. Yet while his clinic's parking lot is more likely to be filled with horses and buggies than cars, what goes on within his lab is the highest of high-tech. Morton is the founder and director of the Clinic for Special Children, serving a largely Old Order Amish and Mennonite clientele in Lancaster County, Pennsylvania. The clinic is a non-profit medical and diagnostic service for children with inherited metabolic disorders, which are more common here due to the general practice of marrying only within one's tight-knit community. From their base surrounded by alfalfa fields in Strasburg, Penn., Morton and his small team treat biochemical disorders such as glutaric aciduria (GA1), maple syrup urine disease (MSUD), Crigler-Najjar syndrome and medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - all told, over 100 different genetic disorders, some never seen before. The mission of the clinic is to advance methods of newborn screening, to improve follow-up services, to develop better diagnostic methods, and to further clinical research in an ongoing effort to improve treatment and outcomes for children who suffer from rare inherited disorders. The clinic studies how genetic errors alter the growth, structure, and function of the developing brain, relying on clinical examinations, imaging studies, and molecular testing. Through candidate gene analysis and genome-wide mapping studies, Morton's lab can detect about 80 gene mutations found in the "Plain People" populations of Pennsylvania. The ability to accurately and inexpensively diagnose patients in a timely manner through DNA-based testing is invaluable for preventing the devastating effects of many genetic disorders, he said. A high school drop out from rural West Virginia and a graduate of Harvard Medical School, Morton received the Albert Schweitzer Prize for Humanitarianism in 1993 and was awarded a MacArthur Foundation "genius grant" in 2006. The NIH Director's Wednesday Afternoon Lecture Series includes weekly scientific talks by some of the top researchers in the biomedical sciences worldwide.
Subjects: Hospitals, Pediatric
Hospitals, Rural
Metabolism, Inborn Errors--ethnology
Metabolism, Inborn Errors--genetics
Netherlands--ethnology
Pennsylvania--epidemiology
Publication Types: Lectures
Webcasts
Download: To download this event, select one of the available bitrates:
[384k]    How to download a Videocast
NLM Classification: WX 28 AP4
NLM ID: 101493097
CIT Live ID: 7025
Permanent link: http://videocast.nih.gov/launch.asp?14838

 

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