Macula Vision Research Foundation
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The Macula Vision Research Foundation
Board of Scientific Advisors
Robert S. Molday, Ph.D. Chairman
Professor
Department of Biochemistry and Molecular Biology
The University of British Columbia
Colin J. Barnstable, D. Phil.
Professor
Department of Ophthalmology and Visual Science
Yale University School of Medicine
Dean Bok, Ph.D.
Professor
Department of Ophthalmology and Neurobiology
University of California, Los Angeles
William W. Hauswirth, Ph.D.
Professor
Department of Ophthalmology and Molecular Genetics
University of Florida College of Medicine
Roderick R. McInnes, M.D., Ph.D.
Senior Scientist
Program in Developmental Biology
The Hospital for Sick Children
Edwin M. Stone, M.D., Ph.D.
Professor
Department of Ophthalmology
University of Iowa Hospitals and Clinics
Robert S. Molday, Ph.D. Chairman
Robert S. Molday is Professor of Biochemistry & Molecular Biology and Ophthalmology and Director of the Center for Macular Research at the University of British Columbia in Vancouver, B.C., Canada. He received a B.Sc. Honors degree in chemistry from the University of Pennsylvania and a M.Sc. degree from Georgetown University before returning to the University of Pennsylvania to obtain a Ph.D. degree in biochemistry. After carrying out postdoctoral research training at the California Institute of Technology in Pasadena, CA, he joined the faculty at the University of British Columbia to pursue an academic career in research and teaching. He currently leads a research group studying molecular and cellular mechanisms responsible for vision and inherited retinal degenerative diseases including retinitis pigmentosa and macular degeneration.
Molday's Contributions
Dr. Molday is internationally recognized for contributions in vision research and inherited retinal degenerative diseases. His laboratory identified and characterized peripherin and ABCR, two proteins that play critical roles in photoreceptor cell structure, function and survival. Mutations in the genes encoding these proteins have been shown by other laboratories to be responsible for various forms of retinitis pigmentosa and juvenile forms of macular degeneration.
He has also played a key role in identifying and characterizing the structural, functional and regulatory properties of photoreceptor cell specific ion channels and transporters essential for phototransduction, the process by which light is converted into electrical signals in in retinal photoreceptor cells as the initial step in vision. In collaboration with Dr. Bernhard Weber in Germany, Dr. Molday's research group has analyzed the structural properties and cellular localization of retinoschisin, a cell adhesion protein important in maintaining the cellular architecture of the retina. Mutations in retinoschisin are known to be responsible for X-linked Juvenile Retinoschisis, a common macular degeneration that affects males early in life. Dr. Molday's research has also led to the design, development and application of novel biochemical and immunological reagents, which are widely used by research scientists throughout the world.
Rewards and Honors
Recognition for his research achievements include NASA Recognition Award (1977), UBC Distinguished Medical Lecturer Award (1992), Killam Research Prize (1994), Alexander von Humbolt Research Award (1993), and the Alcon Research Award (1996). Dr. Molday is also the recipient of the 1998 ARVO Friedenwald Award for outstanding contributions to vision research and retinal degenerative diseases. More recently, he was awarded a Canada Research Chair in Vision and Macular Degeneration and has been elected a Fellow of Royal Society of Canada. He has served on a numerous scientific advisory boards including the Macula Vision Research Foundation, National Eye Institute (NEI) VisC grant review committee, NEI panel for a 5-year Vision Research Plan, Foundation Fighting Blindness, Canadian Institutes for Health Research (CIHR) Cell Physiology Committee, and Active Pass Pharmaceuticals. He has also served as an editorial board member of several international scientific journals. Currently, Dr. Molday is Chairman of the Scientific Advisory Board of Macular Vision Research Foundation and the Foundation Fighting Blindness in Canada. Dr. Molday is now focusing his research efforts on understanding the molecular and cellular mechanisms responsible for various retinal degenerative diseases that are leading causes of blindness. These include macular degeneration, retinitis pigmentosa, X-linked juvenile retinoschisis, and Usher's Syndrome. The information derived from these studies is being used to design and develop new treatments for these blinding diseases.
Colin J. Barnstable, D. Phil.
Dr. Colin Barnstable received his bachelor's degree from University College, Oxford and his Doctorate from Wolfson College, Oxford. After two years of postdoctoral study with Professor Torsten Wiesel at Harvard Medical School he joined the faculty of the Harvard Department of Neurobiology in 1980. Three years later he joined the faculty of the Rockefeller University in New York and in 1988 moved to the Departments of Ophthalmology and Neurobiology at Yale University School of Medicine. Until 1999 he served as Research Director of the Department of Ophthalmology and has also served as Director of the Yale Vision training program and the Yale interdepartmental Neuroscience Program.
Dr. Barnstable has published over 130 papers, most of them on retinal structure and development. He has served on the editorial boards of major scientific journals including the Journal of Neuroscience and the Journal of Neurochemistry, as well as on the review committees of several institutes of the National Institutes of Health.
Dr. Barnstable and his colleagues primarily study the molecular mechanisms of cell differentiation and cell function in the normal mammalian visual system because knowing how the visual system works is critical to understanding how it goes wrong. This work has led to the discovery of many new retinal molecules and pioneered the use of tissue culture to study the role of specific factors in retinal development.
Dr. Barnstable's group was the first to show that cells of the retinal pigment epithelium, the pigmented layer of cells behind the retina, could be converted into retinal tissue. With the potential of using stem cells as a source of replacement tissue in macular degeneration, it has become important to know how to direct their development into the specific cell types needed. Using the tools of modern genetics and biochemistry they have mapped out the molecular pathways by which retinal stem cells can be turned into photoreceptors, an important step if we are ever to use this approach to restore vision.
Using modern methods of bioinformatics and large scale analysis of expressed genes, Dr. Barnstable's group has identified a number of new genes selectively expressed in photoreceptors. Some of these genes may be responsible for forms of human photoreceptor degeneration and others change expression in response to the disease. Understanding how all of these genes work in the normal retina will tell us much about normal vision as well as about the mechanisms of photoreceptor degeneration. Macular degeneration, retinitis pigmentosa and glaucoma are all blinding diseases but have very different causes and lead to loss of different retinal cell types.
Some aspects of the way the cells die are common to all the diseases and Dr. Barnstable's group has recently identified a set of proteins whose activation can lessen the cell death induced in a variety of ways. Current work is aimed at finding drugs to increase the activity of these proteins in the retina so that the loss of cells in a number of retinal diseases can be slowed or abolished.
Dean Bok, Ph.D.
Dr. Dean Bok is the Dolly Green Professor of Ophthalmology and Distinguished Professor of Neurobiology at the University of California, Los Angeles (UCLA) School of Medicine. He earned his Ph.D. degree in Anatomy from UCLA in 1968 and has been a member of the UCLA School of Medicine faculty since that time. During his tenure, he has served as the Associate Director of the Jules Stein Eye Institute and Vice Chair of the Department of Neurobiology.
Research Interests and Contributions
Dr. Bok is widely recognized for his expertise in the cell and molecular biology of the retinal pigment epithelium (RPE). He and his laboratory group explore interactions that take place between retinal photoreceptors and the retinal pigment epithelium (RPE) in health and disease. The RPE performs a multitude of functions in the retina, including the transport of nutrients, ions and fluid, the uptake and processing of vitamin A and the daily phagocytosis of photoreceptor disc membranes, a process that he discovered with his mentor, Dr. Richard Young. He has had a long-term interest in mechanisms whereby binding proteins and enzymes mediate the processing and transport of Vitamin A and its derivatives in the retina. He has initiated a new program that explores the impact of predisposing gene alleles on the RPE in the etiology of age related macular degeneration (AMD).
A second research area involves the study of animal models of retinitis pigmentosa (RP). The techniques of cell and molecular biology are used to determine the role of defective proteins in photoreceptor degeneration. These include peripherin/rds, and lecithin retinol acyltransferase (LRAT), both of which have disease-causing alleles. His laboratory is also actively engaged in the rescue of vision in animal models of RP by virus-vectored gene therapy in the hope that these methods can ultimately be applied to affected humans.
Awards and Honors
Dr. Bok has served as a Trustee of the Association for Research in Vision and Ophthalmology and received the Friedenwald Award from that international organization in 1985. He served as a member of the Visual Disorders Study Section from 1982-1986 (Chair from 1984-1986) and served as a member of the National Advisory Eye Council from 1998-2002. He has received teaching awards from the School of Dentistry, School of Medicine and Jules Stein Eye Institute and was honored with the UCLA Alumni Association Distinguished Teaching Award, the highest teaching honor at UCLA. He served as the Helen C. Levitt Visiting Professor In the Department of Ophthalmology, University of Iowa Hospitals and Clinics in 2003 and was awarded the Paul Kayser International Award in Retinal Research by the International Society for Eye Research in 2006. Dr. Bok currently serves on the Scientific Advisory Board for the Giannini Family Foundation, the Karl Kirchgessner Foundation, the E. Matilda Ziegler Foundation for the Blind, The Ruth and Milton Steinbach Foundation, Research to Prevent Blindness the Foundation Fighting Blindness and the Macula Vision Research Foundation.
William W. Hauswirth, Ph.D.
Dr. Hauswirth received his B.S. in Chemistry from Stanford University and his Ph.D from Oregon State University in Physical Chemistry. After an NIH Fellowship in the Biochemistry Department at Johns Hopkins University, he joined that department as an Assistant Professor. In 1976, he joined the faculty at the University of Florida.
Dr. Hauswirth is, in part, responsible for determining the mechanism of replication of adeno-associated virus (AAV) DNA and the discovery of mitochondrial DNA heteroplasmy in mammals. More recently he collaborated on the first successful ribozyme-mediated rescue of a dominant genetic disease in animals (Retinitis Pigmentosa model in rats) and the first restoration of vision for a recessive retinal disease (congenitally blind Briard dogs). His current interests involve the delivery and testing of potentially therapeutic genes for Retinitis Pigmentosa, Macular Degeneration, Diabetic Retinopathy and Glaucoma in natural and transgenic animal models of human disease. Dr. Hauswirth is principal investigator on numerous NIH and private foundation grants supporting this work, including a consortium grant to fund a clinical gene therapy trial for LCA, a severe form of congenital early childhood blindness.
Dr. Hauswirth has authored over 120 articles and chapters and has frequently served as a member of several NEI Study Sections. He has also served as either a permanent or ad hoc member of research panels for other NIH Institutes, NSF, USDA, National Geographic Society, and American Heart Association as well as consulted on research grants for the United Kingdom, France, Japan, Belgium, Denmark and Finland.
He is currently on the Scientific Boards of The Foundation Fighting Blindness and Retinal International. Over the past ten years Dr. Hauswirth has received short-term professorships from Oxford University, University of Edinburgh, University of Paris, and University of Pavia, and is currently on the editorial boards of several vision journals. He was recently given the 2001 Alcon Award for Vision Research and the 2002 Trustees Award of the Foundation Fighting Blindness.
Roderick R. McInnes, M.D., Ph.D.
Roderick R. McInnes is an internationally recognized human geneticist and a leader in the fields of eye development and inherited eye disease. He received his undergraduate and medical degrees from Dalhousie University, and his Ph.D. from McGill University in Montreal, where he trained with Charles Scriver.
He is presently the Scientific Director of the Institute of Genetics of the Canadian Institutes of Health Research. At the University of Toronto, he holds the Anne and Max Tanenbaum Chair in Molecular Medicine, and is a Professor of Pediatrics and of Molecular and Medical Genetics. Dr. McInnes was previously the Head of the Program in Developmental Biology at the Research Institute of the Hospital for Sick Children, Toronto, and an International Research Scholar of the Howard Hughes Medical Institute.
A Senior Scientist at the Hospital for Sick Children, Dr. McInnes has made many 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. His discoveries include the identification of the major eye developmental genes CHX10, CRX, and VSX1, as well as the photoreceptor genes ROM1 and PHR1. Dr. McInnes' group has demonstrated the relationship between several of the genes discovered in his lab with various forms of inherited blindness. With Derek van der Kooy, Dr. McInnes was the co-discoverer of retinal stem cells in the adult eye. Recently, his group identified a novel principle that underlies most if not all forms of retinal degeneration, a principle that appears to challenge many current ideas about why photoreceptor cells die in retinal degenerative diseases. With Robert Nussbaum and Hunt Willard, Dr. McInnes is coauthor of the 6th edition of Thompson and Thompson's Genetics in Medicine. Dr. McInnes is a Fellow of the Royal Society of Canada.
Edwin M. Stone, M.D., Ph.D.
Dr. Stone received his B.A. in English and Biology from Rice University. He then joined the Medical Scientist Training Program of Baylor College of Medicine where he received his Ph.D. in Cell Biology as well as his M.D. After an internship at the St. Joseph Hospital in Houston, he moved to the University of Iowa for his Residency in Ophthalmology and Fellowship in Vitreoretinal Diseases and Surgery.
Dr. Stone's main research interest has been the application of molecular genetic approaches to the study of inherited human eye diseases, especially macular degeneration and glaucoma. He and his close collaborator Dr. Val Sheffield have identified the chromosomal locations of over 20 different human eye diseases and have also identified several specific disease-causing genes including those that cause open-angle glaucoma, dominant drusen, three forms of corneal dystrophy, two forms of Bardet-Biedl syndrome, and a rare developmental abnormality of the retina known as the enhanced S-cone syndrome.
In addition to these gene discovery efforts, Dr. Stone has been very interested in the correlation of specific genotypes with human disease phenotypes. Working with a world-wide network of other clinician-scientists, Dr. Stone has conducted large-scale evaluations of sequence variation in a number of disease genes including rhodopsin, RDS, RPE65, guanylate cyclase, CRX, ABCA4, bestrophin and myocilin.
Dr. Stone has authored over 150 articles and chapters and has served as a member of the Visual Sciences C Study Section. He is the editor of the Ophthalmic Genetics section of the Archives of Ophthalmology. He serves on the Scientific Advisory Board of the Foundation Fighting Blindness and the Macula Vision Research Foundation. Dr. Stone has received a number of awards including the Cogan Award, the Rosenthal Award, the Rudin Glaucoma Prize and the Alcon Research Institute Award. He has been selected to give three prestigious lectures: the Gregg Lecture of the Royal Australian College of Ophthalmology, The (inaugural) Davson Lecture of the London Institute of Ophthalmology, and the Doyne Lecture of the Oxford Congress. In 2002, Dr. Stone was chosen to be an Investigator of the Howard Hughes Medical Institute.