Genetics and Genomics in Vision Symposium

April 16th - 17th, 2009
NIH Bethesda Campus

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Preliminary Program

THURSDAY, APRIL 16TH
Bldg 38A (National Library of Medicine) - Lister Hill Center Auditorium

Evening Session
Chairperson: Anand Swaroop, Ph.D.
Chief, Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute (NEI), NIH

4:00 - 5:00
KICK-OFF SEMINAR
Inherited retinal degenerations: Why do the cells die? What can we do to save them?
Roderick McInnes, M.D., Ph.D.
Professor of Pediatrics and Molecular and Medical Genetics, University of Toronto, Anne and Max Tanenbaum Chair in Molecular Medicine

5:00 - 5:30
Light refreshments

FRIDAY, APRIL 17TH
Bldg 10 - Lipsett Amphitheatre

8:30 - 9:00
Registration & Coffee

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

9:00 - 9:05
WELCOME ADDRESS
Paul Sieving, M.D., Ph.D.
Director, NEI, NIH

9:05 - 9:45
KEYNOTE ADDRESS
Genetic Screens of Disease Genes and Modifiers
Aravinda Chakravarti, Ph.D.
Professor, Departments of Medicine, Pediatrics, and Molecular Biology and Genetics, Institute of Genetic Medicine, Johns Hopkins University School of Medicine

9:45 - 10:15
CLINICAL PERSPECTIVE
Genetic Discoveries and Translational Research
Stephen Ryan, M.D.
Grace and Emery Beardsley Professor of Ophthalmology, University of Southern California and Doheny Eye Institute

10:15 - 10:40
Coffee break

10:40 - 11:40
RETINAL DEGENERATION IN SYNDROMIC DISEASES
The Blind Leading the Obese: The Molecular Pathophysiology of Bardet-Biedl Syndrome
Val Sheffield, M.D., Ph.D.
Professor, Department of Pediatrics, University of Iowa
Investigator, Howard Hughes Medical Institute

Genetics of Usher 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

11:40 - 12:00
PRESENTATIONS BY NEI FELLOWS AND INVESTIGATORS
Mary Mattapallil, M.V.Sc, 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

12:00 - 1:00
Lunch break

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

1:00 - 2:30
INSIGHTS IN EYE GENETICS
TBA
Mark Daly, Ph.D.
Assistant Professor of Medicine, Harvard Medical School and Massachusetts General Hospital
Human Genetics Promise and Progress

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

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

2:30 - 2:50
Coffee break

2:50 - 3:10
PRESENTATIONS BY NEI FELLOWS AND INVESTIGATORS
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

3:10 - 4:00
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

4:00 - 4:30
OVERVIEW AND CONCLUDING REMARKS
Paul Sieving, M.D., Ph.D.
Director, NEI, NIH