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Symposium on "Genetics and Genomics in Vision"

National Eye Institute
40th Anniversary Symposia Series

April 16th - 17th, 2009
National Institutes of Health - Bethesda Campus


Joan E. Bailey-Wilson, Ph.D. is co-Chief of the Inherited Disease Research Branch of the National Human Genome Research Institute, NIH. She is also an Adjunct Professor in the Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, and a Diplomat of the American Board of Medical Genetics as a Ph.D. Medical Geneticist. Dr. Bailey-Wilson’s research interests include localizing and characterizing genetic susceptibility loci for various complex diseases such as cancers and eye diseases, and developing novel statistical methods that can be used to disentangle the roles that genes and environment play in causing these diseases.

Brian P. Brooks, M.D., Ph.D. is Chief of the Unit on Pediatric, Developmental and Genetic Ophthalmology at the National Eye Institute, NIH, and Director of the Ophthalmic Genetics Clinic at the Children’s National Medical Center. He received his M.D. and Ph.D. degrees from the University of Pennsylvania. He trained in ophthalmology with fellowship training in pediatric ophthalmology at the University of Michigan, where he also served as chief resident. Thereafter, Dr. Brooks joined the National Human Genome Research Institute’s Medical Genetics Training Program. He is the founding director of the National Ophthalmic Disease Genotyping and Phenotyping Network. His research focuses on the genetics of developmental eye abnormalities, particularly coloboma.

Aravinda Chakravarti, Ph.D. is Director of the Center for Complex Disease Genomics and Professor of Medicine, Pediatrics, Molecular Biology & Genetics, and Biostatistics at the Johns Hopkins University School of Medicine and the Bloomberg School of Public Health. His research is aimed at genome-scale analysis of humans and computational analysis of gene variation and function to understand the molecular genetic basis of human disease. He has been a key participant and architect of the Human Genome, HapMap, and 1000 Genomes project.

Mark J. Daly, Ph.D. is an Assistant Professor at the Massachusetts General Hospital/Harvard Medical School and a Senior Associate Member of the Broad Institute of Harvard and MIT, where he directs computational biology for the Medical and Population Genetics Program. Previously, he was director of the Human Genetics Informatics group at the Whitehead Institute Center for Genome Research from 1996 on and from 2001-2004 ran an independent research group as the Pfizer Fellow in Computational Biology at the Whitehead Institute for Biomedical Research. His lab focuses on computational approaches to understanding the genetics of disease with a strategy of integrating powerful techniques from human and mouse genetics. His recent research focus is aggressive application of these approaches in major common disease areas, particularly Crohn’s disease and autism.

Elizabeth Engle, M.D. is Professor of Neurology and Ophthalmology at Harvard Medical School and Howard Hughes Medical Institute Investigator. Her research focuses on uncovering the genetic causes of common and complex strabismus. In particular, the lab’s primary goal has been to understand the molecular basis of a group of pediatric eye movement disorders referred to as the congenital cranial dysinnervation disorders (CCDDs).

James S. Friedman, Ph.D. is a Research Fellow with the National Eye Institute, NIH. He followed Dr. Anand Swaroop from the University of Michigan to the Neurobiology-Neurodegeneration & Repair Laboratory (N-NRL) in March of 2008. He is currently studying the genetics of two mouse models of retinal degeneration (rd3 and rd11) and a large Scandinavian family affected with autosomal dominant retinitis pigmentosa.

Thomas B. Friedman, Ph.D. is Chief of the Laboratory of Molecular Genetics at the National Institute of Deafness and Other Communication Disorders (NIDCD), NIH. He studies hereditary hearing loss and Usher Syndrome in humans and mouse models. Dr. Friedman helped to create the NIH’s Usher Syndrome Web site, a joint resource from NIDCD and the National Eye Institute, NIH.

Mary J. Mattapallil, M.V.Sc., Ph.D. is a Research Fellow in the Laboratory of Immunology at the National Eye Institute (NEI), NIH. She obtained her Ph.D. in Molecular Genetics from the National Institute of Immunology in New Delhi in 1996. After a brief postdoctoral fellowship at the University of California - Davis with Dr. Leslie Lyons, she moved to Dr. Rachel Caspi’s lab at the NEI. She has numerous publications to her credit and was awarded the NIH Fellows Award for Research Excellence in 2006. Her research has focused on understanding the genetic basis of autoimmune uveitis.

Roderick R. McInnes, Ph.D. is Professor of Pediatrics and of Molecular and Medical Genetics at the University of Toronto. He is a Fellow of the Royal Society of Canada and the Canadian Academy of Health Sciences, and was the recipient of the Samuel Rosenthal Award from the Rosenthal Foundation of Cleveland in 2002. Dr. McInnes has made many important contributions to the understanding of the molecular basis of retinal and eye development, and to the identification of genes and processes associated with inherited retinal degenerations. These discoveries include the identification of the eye developmental genes CHX10, CRX, and VSX1, as well as the photoreceptor genes ROM1 and PHR1.

Rivka A. Rachel M.D., Ph.D. is Staff Scientist since 2008 in the Neurobiology-Neurodegeneration & Repair Laboratory (N-NRL) at the National Eye Institute, NIH. She received her MD degree from the Medical College of Wisconsin where she began residency training in neurosurgery. Realizing that current clinical treatment of most neurological disorders lags behind basic mechanisms of disease, she turned to research in neuroscience and obtained a PhD at Columbia University in 2001. She did further training at the National Cancer Institute with Nancy Jenkins and Neal Copeland, investigating genetic models of human disease in mice. Dr Rachel’s current research focuses on retinal degeneration and syndromic disorders.

Stephen J. Ryan, M.D., is the President of the Doheny Eye Institute, which is an affiliate of the University of Southern California. He is Home Secretary of the Institute of Medicine of The National Academy of Sciences. Dr. Ryan is the founding President of the National Alliance for Eye and Vision Research (NAEVR). An internationally recognized expert in the field of retinal diseases and ocular trauma, Dr. Ryan has provided congressional testimony on numerous occasions in support of the NIH and the National Eye Institute.

Val C. Sheffield, M.D., Ph.D. is a Howard Hughes Medical Institute Investigator, Professor of Pediatrics, and Director of the Division of Medical Genetics at the University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City. Dr. Sheffield is a member of the Institute of Medicine of the National Academies. His research focuses on identifying genes and disease mechanisms involved in Mendelian and complex human genetic disorders, including glaucoma, macular degeneration, autism, obesity, and cardiovascular disorders.