MVRF BOARD OF DIRECTORS
Karen & Herbert Lotman
Founding Scientific Director
Marvin L. Sears, MD
Board of Directors
Shelly Lotman-Fisher, President
Jeffrey Lotman, Vice President
Karen Lotman, Treasurer/Secretary
Robert S. Molday, PhD, ISAB Chair
Colin J. Barnstable, DPhil
Dean Bok, PhD
William W. Hauswirth, PhD
Roderick R. McInnes, MD, PhD
Philip J. Rosenfeld, MD, PhD
MVRF INTERNATIONAL SCIENTIFIC ADVISORY BOARD (ISAB)
It takes intensive research to find exceptional researchers. MVRF is guided by an International Scientific Advisory Board (ISAB) comprised of leading retina researchers from around the world. We award funding only to the best of the best. And with no ties to any one institution, our research dollars are directed to the most promising ideas.
Robert S. Molday, PhD, Chairman
Director, Center for Macular Research, University of British Columbia, Vancouver, BC
Robert S. Molday is a 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 where he leads a research group studying molecular and cellular mechanisms responsible for vision and retinal degenerative diseases.
Dr. Molday is internationally recognized for contributions in vision research, photoreceptor cells, and inherited retinal degenerative diseases. His laboratory identified and characterized a number of genes and proteins that play critical roles in photoreceptor cell structure, function and survival and have been linked to inherited retinal degenerative diseases. These include Peripherin/rds associated with autosomal dominant retinitis pigmentosa and macular dystrophy, ABCA4 and ELOVL4 linked to autosomal recessive and dominant Stargardt Macular Degeneration, retinoschin (RS1) associated with X-linked Juvenile Retinoschisis, RP2 associated with X-linked Retinitis Pigmentosa, and most recently, RD3 responsible for Leber Congenital Amaurosis Type 12.
He has 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 retinal photoreceptor cells as the initial step in vision. Currently, he is collaborating with Dr. Bill Hauswirth on the development and application of gene therapy as a treatment for certain retinal degenerative diseases including X-linked Juvenile Retinoschisis, Stargardt Macular Degeneration and Leber Congenital Amaurosis. In addition, Dr. Molday’s research has resulted in the design, development and application of novel biochemical and immunological reagents, which are widely used by research scientists throughout the world.
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), the Alcon Research Award (1996), ARVO Fridenwald Award (1998), the Jacob Biely Prize (2001), the ISER Ludwig von Sallmann Prize (2010) for outstanding contributions to vision research and retinal degenerative diseases. He holds a Canada Research Chair in Vision and Macular Degeneration and is an elected Fellow of Royal Society of Canada. He serves on a number of scientific advisory and editorial boards.
Colin J. Barnstable, DPhil
Professor and Chair, Department of Neural and Behavioral Sciences, Pennsylvania State University 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 genes 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.
Dean Bok, PhD
Distinguished Professor of Neurobiology & Dolly Green Professor of Ophthalmology, University of California, Los Angeles, CA
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.
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 Blindness. 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.
William W. Hauswirth, PhD
Professor, Department of Molecular Genetics, Rybaczki-Bullard Professor, Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, FL
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.
Roderick R. McInnes, MD, PhD
Director Lady Davis Research Institute at the Jewish General Hospital, McGill University, Montréal, Quebec
Roderick R. McInnes is the Director of the Lady Davis Institute of the Jewish General Hospital, Canada Research Chair in Neurogenetics and Professor of Human Genetics, at McGill University. Until 2009, he was a University Professor of the University of Toronto. Previously he was the Head of the Program in Developmental Biology at the Research Institute of the Hospital for Sick Children, an International Research Scholar of the Howard Hughes Medical Institute and, from 2000-2010, the inaugural Scientific Director of the Institute of Genetics of the Canadian Institutes of Health Research. 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 demonstrated 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. Amongst other honours, Dr. McInnes is a Fellow of the Royal Society of Canada and the Canadian Academy of Health Sciences. He was appointed to the Order of Ontario in 2008, and a member of the Order of Canada in 2009. In 2010, Dr. McInnes was the President of the American Society of Human Genetics.
Philip J. Rosenfeld, MD, PhD
Professor of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL
Philip J. Rosenfeld is a Professor of Ophthalmology at the Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine. He received both his M.D. and Ph.D 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 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 is now 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.