Scientific Advisors

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.
Jewish General Hospital
Lady Davis Institute For Medical Research
McGill University

Philip J. Rosenfeld, M.D., Ph.D.
Professor of Ophthalmology
Bascom Palmer Eye Institute
University of Miami Miller School of Medicine

 

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.

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Colin J. Barnstable, D. Phil.

Professor and Chair, Department of Neural and Behavioral Sciences, Penn State College of Medicine, Hershey, PA.

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, after a sabbatical leave became Vice-Chair for research.  He also served as Director of the Yale Vision training program and the Yale interdepartmental Neuroscience Program.  In 2006 he became founding chair of the newly-created Department of Neural and Behavioral Sciences at Penn State College of Medicine.
 
Dr. Barnstable has published over 175 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.  He is currently Co-Editor in Chief of the new Journal of Ocular Biology, Diseases and Informatics.
 
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.
Dr. Barnstable's group was the first to show that cells of the mammalian 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 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. Recent studies have identified some of the epigenetic mechanisms that control whether these gens are expressed in the normal and diseased retina.  Dr. Barnstable’s group also participated in two genetic screens that identified genes contributing to Macular Degeneration.  Studies to define how these genes interact are ongoing.
 
Some aspects of the way the cells die are common to all the diseases and Dr. Barnstable participates in a number of studies looking at the neuroprotective effect of specific molecules.  Some of these studies have advanced to the point of preclinical trials for molecules that can alleviate problems in diabetic retinopathy and may also be useful for other retinal diseases. 

 

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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.

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. In 2009, he was honored with the Llura Liggett Gund Award from the Foundation Fighting Blindnes.

Dr. Bok currently serves on the Scientific Advisory Board of the Karl Kirchgessner Foundation, the E. Matilda Ziegler Foundation for the Blind and the Macula Vision Research Foundation.

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William W. Hauswirth, Ph.D.

Dr. Hauswirth received his B.S. in Chemistry from Stanford University and his Ph.D in Physical Chemistry from Oregon State University.  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 of Molecular Genetics and in 1985 the Ophthalmology faculty at the University of Florida.

Before turning his attention to the retina, while at UF 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, the basis of mitochondrial disease.  More recently he collaborated on the first successful rescue of a dominant genetic disease in animals (ribozyme treatment in a Retinitis Pigmentosa model in rats) and the first restoration of vision for a recessive retinal disease (congenitally blind Briard dogs).  He also demonstrated that AAV mediated gene therapy could cure red-green color blindness in monkeys, ranked as the third most important scientific discovery of 2009 by Time Magazine.

Dr. Hauswirth’s current interests involve the delivery and testing of potentially therapeutic genes for Retinitis Pigmentosa, Macular Degeneration, Diabetic Retinopathy, Glaucoma and Optic Neuropathies in natural and transgenic animal models of each human disease. Dr. Hauswirth is principal investigator on numerous NIH and private foundation grants supporting this work, including a 3-University consortium grant that funds the pre-clinical stages of a gene therapy trial for LCA, a severe form of congenital early childhood blindness.  He is also coPI on a related clinical trial grant for LCA2 in which the patients began treatment in 2007.  In collaboration with Genzyme Corp. and AGTC, Inc, he is developing a gene-based therapy for the wet form of AMD, with the first patients expected in 2010.  Finally, he collaborates with more than 70 PI’s around the world, primarily by designing and providing them, free of charge, AAV vectors (~125 per year) for disorders affecting essentially all parts of the eye. 

Dr. Hauswirth has authored over 220 articles and reviews and has frequently served as a member of several different NIH/NEI Study Sections.  He has also served as either a permanent or ad hoc member of research panels for other NIH Institutes, the NSF, the USDA, the National Geographic Society, the American Heart Association, the Foundation Fighting Blindness and the Macular Vision Research Foundation as well as consulted on research grants for the United Kingdom, France, Italy, Japan, Belgium, Denmark, Finland and Kuwait. He is currently on the Scientific Boards of The Foundation Fighting Blindness and the Macula Vision Research Foundation.  Over the past fifteen 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 journals.  He was recently awarded the 2001 Alcon Award for Vision Research, the 2002 Foundation Fighting Blindness Trustees Award, the 2004 John Kayser International Award for Retinal Research, the 2005 Scientist of the Year from the Hope for Foundation, Florida Scientist of the Year in 2009 and has received University of Florida Distinguished Research Professorship Awards in 1997 and 2004.

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Roderick R. McInnes, M.D., Ph.D.

Roderick R. McInnes is the Director of the Lady Davis Institute of the Jewish General Hospital and Professor of Genetics and of Biochemistry at McGill University, Montreal, where he succeeded Charles Scriver as the Alva Chair in Human Genetics. He is also a University Professor Emeritus of the University of Toronto where, until recently, he was the Anne and Max Tanenbaum Chair in Molecular Medicine and a Senior Scientist at the Hospital for Sick Children in Toronto.  Dr. McInnes received his undergraduate and medical degrees from Dalhousie University in Halifax, and his Ph.D. from McGill, where he trained with Charles Scriver.  Since 2000, he has been the inaugural Scientific Director of the Institute of Genetics of the Canadian Institutes of Health Research.  Previously he was the Head of the Program in Developmental Biology at the Research Institute of the Hospital for Sick Children in Toronto, and an International Research Scholar of the Howard Hughes Medical Institute. He has made 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. Recently, he and collaborators identified an important protein, Neto1, required for learning and memory, and established that it is possible to correct an inherited learning defect in mice with a drug, a finding with important implications for human learning disability.  He is a coauthor of the 5th, 6th and 7th editions of Thompson and Thompson’s Genetics in Medicine, and of the CIHR Guidebook for New Principal Investigators.  Amongst other honours, Dr. McInnes is a Fellow of the Royal Society of Canada and the Canadian Academy of Health Sciences.  He was the recipient of the Samuel Rosenthal Award from the Rosenthal Foundation of Cleveland in 2002, and an honourary Doctor of Laws from Dalhousie University in 2007. Dr. McInnes was appointed to the Order of Ontario in 2008, and a member of the Order of Canada in 2009.  He is the current (2010) President of the American Society of Human Genetics.

 

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Philip J. Rosenfeld, M.D., Ph.D.

Philip Rosenfeld is Professor of Ophthalmology at the Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine. He received both his MD and PhD degrees from the Johns Hopkins School of Medicine, and completed his residency in ophthalmology and a post-doctoral research fellowship at the Massachusetts Eye and Ear Infirmary of Harvard Medical School. Following his residency and research fellowship, he completed a vitreoretinal fellowship at the Bascom Palmer Eye Institute.  Following his fellowship in 1996, Dr. Rosenfeld joined the faculty of the Bascom Palmer Eye Institute. 

Dr. Rosenfeld is a retina specialist with a primary clinical research interest is in age-related macular degeneration (AMD).  He was principal investigator and study chairman for several of the photodynamic therapy trials using verteporfin (Visudyne®; QLT, Novartis) which was the first successful drug therapy for wet AMD. Dr. Rosenfeld subsequently explored the use of drugs that inhibit vascular endothelial growth factor (VEGF). He was principal investigator in the Macugen trials as well as lead investigator in the Phase I/II/III Lucentis™ (Genentech) trials. Dr. Rosenfeld was the first to use Avastin in wet AMD when he designed and performed a study investigating systemic, intravenous Avastin), the first FDA-approved anti-VEGF therapy.  This novel approach led the way for his pioneering, breakthrough use of intravitreal Avastin for the treatment of wet AMD as well as other exudative retinal diseases; an approach that now is used globally as a low cost alternative to Lucentis therapy. Dr. Rosenfeld designed and performed the PrONTO Study, a study that successfully explored the use of treatment as-needed as an alternative to monthly Lucentis therapy. By treating as-needed, Dr. Rosenfeld demonstrated visual acuity outcomes similar to monthly dosing with Lucentis, but requiring fewer than half the number of expected injections over 2 years compared with monthly dosing. At this time, Dr. Rosenfeld continues his interest in developing novel therapies by exploring new treatment strategies for both wet and dry AMD. Dr. Rosenfeld recently initiated a study exploring complement inhibition for the treatment of dry AMD using an FDA-approved drug known as eculizumab (Soliris).  In addition, Dr. Rosenfeld is actively involved in the development and applications of new imaging technologies to better understand macular diseases.

Dr. Rosenfeld is an active member in several ophthalmologic societies including the American Academy of Ophthalmology, the American Society of Retinal Specialists, the Retina Society, the Macula Society, the Association for Research in Vision and Ophthalmology (ARVO), the Pan-American Ophthalmology Association (PAOA), the Society of Heed Fellows, the Florida Society of Ophthalmology, and the Miami Ophthalmological Society (MOS).  Currently, Dr. Rosenfeld is president of the Miami Ophthalmological Society. Dr. Rosenfeld has received the American Academy of Ophthalmology's Achievement and Secretariat Awards, the Florida Society of Ophthalmology Shaler Richardson MD Service to Medicine Award, the Macula Society’s Richard and Hinda Rosenthal Foundation Award, the Heed Award, the Founders’ Award from the American Society of Retinal Specialists, the Golden Medal Moacyr Álvaro from the Federal University São Paulo, the Saving Vision Award from the Mediterranean Retina III Meeting, the Muse Award from Eye and Ear Foundation of the University Pittsburgh, and the J. Donald Gass Award from the Retina Society.

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