The first 40th anniversary symposium offered geneticists, biologists, clinicians, and clinician-scientists an opportunity to examine the impact of genetics research on vision research.

Agenda:
Morning Session
Chairperson: Paul Sieving, M.D., Ph.D., Director, NEI, NIH

WELCOME ADDRESS
Paul Sieving, M.D., Ph.D., Director, NEI, NIH

KEYNOTE ADDRESS
Aravinda Chakravarti, Ph.D., Professor, Departments of Medicine, Pediatrics, and Molecular Biology and Genetics
Director, Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Genetic Screens of Disease Genes and Modifiers

CLINICAL PERSPECTIVE
Stephen Ryan, M.D., Grace and Emery Beardsley Professor of Ophthalmology, University of Southern California and Doheny Eye Institute
Genetic Discoveries and Translational Research

RETINAL DEGENERATION IN SYNDROMIC DISEASES
Val Sheffield, M.D., Ph.D., Professor, Department of Pediatrics, University of Iowa
Investigator, Howard Hughes Medical Institute
The Blind Leading the Obese: The Molecular Pathophysiology of Bardet-Biedl Syndrome

Thomas Friedman, Ph.D., Chief, Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, NIH
Usher syndrome: a molecular genetic junction of vision and hearing research

PRESENTATIONS BY NEI FELLOWS
Dr. Mary Mattapallil, M.D.V., Ph.D., Research Fellow, Immunoregulation Section, Laboratory of Immunology, NEI Genetic interactions influence development of autoimmune uveitis: lessons from animal models

Rivka Rachel M.D., Ph.D., Staff Scientist, Neurobiology-Neurodegeneration & Repair Laboratory, NEI
Pathogenesis of retinal degeneration in the rd16 mouse: a model for syndromic disorders caused by mutations in the centrosomal-ciliary protein CEP290/NPHP6

Afternoon Session Chairperson: Sheldon Miller, Ph.D., Scientific Director, Division of Intramural Research, NEI, NIH

INSIGHTS IN EYE GENETICS
Mark Daly, Ph.D., Assistant Professor of Medicine, Harvard Medical School and Massachusetts General Hospital
Human Genetics Promise and Progress

Joan Bailey-Wilson, Ph.D., Head, Statistical Genetics Section, National Human Genome Research Institute, NIH
Genetic studies of myopia and refractive error: the present and the future.

Elizabeth Engle, M.D., Professor of Neurology and Ophthalmology, Harvard Medical School, Investigator, Howard Hughes Medical Institute
Family-based studies of strabismus

PRESENTATIONS BY NEI FELLOWS
Brian P. Brooks, M.D., Ph.D., Chief, Pediatric, Developmental and Genetic Ophthalmology Section, Laboratory of Ophthalmic Genetics and Visual Function, NEI
Expression profiling during ocular development identifies Two Nlz genes with a critical role in optic fissure closure

James Friedman, Ph.D., Research Fellow, Neurobiology-Neurodegeneration & Repair Laboratory, NEI
Mutations in a novel BTB-Kelch protein, KLHL7, cause autosomal dominant retinitis pigmentosa

PANEL DISCUSSION
Moderators: Hemin Chin, Ph.D., Director, Ocular Genetics Program, Division of Extramural Research, NEI, NIH

Elizabeth Phimister, Ph.D., Deputy Editor, New England Journal of Medicine

OVERVIEW AND CONCLUDING REMARKS
Paul Sieving, M.D., Ph.D., Director, NEI, NIH