2007 Grant Recipients

Novrouz Akhmedov, Ph.D.
Jules Stein Eye Institute, UCLA School of Medicine
Dr. Novrouz Akhmedov is in the research series at UCLA (Assistant Research Ophthalmologist, Step III). His work involves the characterization of a gene that he has recently isolated, 7R, and its protein product. A mutation in this gene cosegregates with disease in a family affected with arRP. He is trying to determine the mechanism by which mutations in 7R cause retinal degeneration. He is also planning to screen the DNA of the collection of arRP cohorts to find other mutations in 7R and thereby establish it as a novel arRP locus. His studies will increase the understanding of the disease caused by abnormal 7R and allow the design of strategies for the prevention or cure of this retinal degeneration.

Tomas S. Aleman, M.D.
University of Pennsylvania
Dr. Aleman, Research Assistant Professor of Ophthalmology at the University of Pennsylvania School of Medicine, is a retinal degeneration expert at the Scheie Eye Institute. His work includes pre-clinical and clinical experiments to further knowledge of disease mechanisms in inherited retinal degenerations en route to treatment. Most recently, he has made contributions to understanding the natural history of common molecular-defined forms of retinitis pigmentosa and Leber congenital amaurosis.

Dan Chung, Ph.D.
University of Pennsylvania
Dr. Daniel Chung aims to develop his career as a pediatric retinal degeneration specialist and, in this capacity, will bridge the gap between laboratory research and development of treatments for blinding retinal diseases. Dr. Chung is working to develop both non-viral and virus-based gene transfer to treat early onset retinal degeneration. He is evaluating novel non-viral gene transfer approaches that could potentially minimize immunologic complications of gene transfer. In addition, he is involved in testing virus-based gene transfer strategies in a number of different genetic models of early onset retinal degeneration, including retinitis pigmentosa, Leber congenital Amaurosis, Stargardt disease and Usher Syndrome.

Artur V. Cideciyan, Ph.D.
University of Pennsylvania
Dr. Cideciyan is a unique and key contributor to the field of retinal degenerations. He is internationally recognized for his expertise in the use of state-of-the-art non-invasive methods to understand causes for the loss of vision in patients with retinal degenerations. His expertise is wide ranging and includes electrophysiological, psychophysical, imaging and mathematical methods. Dr. Cideciyan’s strong quantitative background together with his deep understanding of retinal physiology has allowed his studies to bridge the enormous gap between molecular abnormalities and loss of visual function. What sets him particularly apart is his innovative multidisciplinary approach to testing hypotheses of scientific and clinical importance to patients. In addition to the clinical research in molecularly characterized patients, Dr. Cideciyan also studies genetically-engineered or naturally occurring animal models of inherited retinal degenerations with methodology that can be specifically compared to that in human work. This tactic has immensely helped with the interpretation of patient results.

Jacque Duncan, M.D.
Beckman Vision Center, University of California - San Francisco
Dr. Duncan is a talented clinician scientist who is setting up her independent laboratory at UCSF to study retinal degenerative disease. She has trained with Dr. Matthew LaVail in the area of neuroprotective mechanism for photoreceptor and RPE rescue in retinal disease.

Jeffrey Goldberg, M.D., Ph.D.
Bascom Palmer Eye Institute, University of Miami
Dr. Goldberg’s lab works on keeping neurons alive, and replacing retinal neurons using new nanotechnology approaches with stem cells. Recently, the lab began purifying stem cells from human donor eyes, keeping them alive in culture, and loading them with nanoparticles to direct them to specific locations in the eye, for example, to replace photoreceptors. The goal is to use this work to complement work on stem cells and neuroprotection, and to make rapid advances in the lab that can be translated for human use.

Byron Lam, M.D.
Bascom Palmer Eye Institute, University of Miami
Dr. Lam’s main research objectives are: 1) to develop and test treatments for retinal degeneration and 2) to develop new methods of assessing retinal health and function in retinal degeneration and to correlate these findings with specific disease-causing genetic alterations. His lab is currently involved in testing neurotrophic factor treatment (CNTF trial) and stem cell treatment (CNTO trial) and will collaborate with investigators in Philadelphia for gene therapy (RPE65 AAV trials). The lab also aims to develop novel techniques such as the wide-field three-dimensional optical coherence tomography (OCT) to examine anatomical changes in retinal degenerations in infants and adults. They also plan to release a prototype database program for phenotypic-genotypic correlation to facilitate clinical research and patient selection for clinical trials.

Alan Mears, Ph.D.
Department of Ophthalmology, University of Ottawa
Dr. Alan Mears is working on elucidating transcriptional regulatory networks required for photoreceptor development and function, and his studies may yield great insight into the development of future targetted therapies. His research may have a direct impact on stem cell research, as he is working to find the factors/molecules that guide photoreceptor differentiation, which could then be applied into triggering stem cells to differentiate into new photoreceptor cells. His lab utilizes many techniques of genetics, cell/molecular biology, biochemistry, genomics, and bioinformatics.

Daniel V. Palanker, Ph.D.
Stanford School of Medicine
Dr. Palanker is trained in physics and lasers, and is a rising star in the field of electrical field interactions with biological tissue. This has applications in retinal surgery (he invented the PEAK surgical device), in gene therapy (electroporation), and perhaps most interestingly, in the area of retinal prosthesis. His lab has been doing tremendous work over the past couple of years and is both highly innovative and cutting edge, as well as extremely prolific.

David R. Pepperberg, Ph.D.
University of Illinois at Chicago
Dr. Pepperberg is the Director of the Photoreceptor Research Laboratory in the Department of Ophthalmology & Visual Science at the University of Illinois at Chicago. He is an established, internationally recognized visual biochemist who has made seminal contributions to our understanding of mechanisms underlying phototransduction and photoreceptor adaptation. Recently, Dr. Pepperberg significantly expanded the scope of his research by taking the lead role in developing a program project grant to explore the use of nanotechnology to restore vision to damaged retinal cells. To do this, Dr. Pepperberg assembled a multidisciplinary group of scientists that includes experts in the fields of bioengineering, chemistry, molecular biology, ophthalmology, pharmacology, and physics. Working together this group will develop a nanotech structure that can be introduced into the eye and repair vision loss.

Baerbel Rohrer, Ph.D.
Medical University of South Carolina
Dr. Rohrer is pursuing important work on mechanisms of degeneration and rescue in RPE65 knockout mice.

Steven Tsang, M.D., Ph.D.
Department of Ophthalmology, Columbia University
Dr. Stephen Tsang’s studies involve manipulation of genes that cause photoreceptor degeneration in mice and humans. His goal is to control the expression of the phosphodiesterase-6 gamma gene in mice by using inducible gene targeting, which will disrupt the activity of a gene in a specific tissue at the desired time during the life of the mouse. By following the effects of the genetic abnormality after the photoreceptors have fully developed, he hopes to gain an understanding of the early events controlling photoreceptor signaling and degeneration in mice, which could lead to new drug targets for the prevention or delay of human retinal degenerations. Gaining temporal and spatial control of gene expression is essential for the elucidation of gene function in the whole organism. The reagents that Dr. Tsang will develop could be built into gene therapy vectors to provide temporal and spatial control of gene expression. An inducible gene targeting system can be used to address several previously unapproachable problems in sensory biology as well as gene therapy.

Rong Wen, M.D., Ph.D.
Bascom Palmer Eye Institute, University of Miami
The long-term objectives of Dr. Wen’s research are to understand the mechanism of retinal degeneration and to develop new therapeutic strategies. One of his current projects is to study cone photoreceptor degeneration. In the late stages of retinitis pigmentosa, it is the cone degeneration that causes severe vision loss. How to save cones is a major challenge to the retinal degeneration research community. One of the obstacles is the lack of cone degeneration experimental models. Dr. Wen’s lab is characterizing cone degeneration in a transgenic rat with retinal degeneration, which can serve as a good model of cone degeneration. Using this model, he has found that CNTF (ciliary neurotrophic factor) is able to stimulate cones to regenerate outer segments. That means that, at least in this rat model, CNTF is able to reverse cone degeneration and restore the functionality of cones. With such results, Dr. Wen endeavors to help the research community to think about restoration and maintaining useful vision instead of merely slowing the progression of disease.

Michael Grassi, M.D.
University of Chicago
Dr. Grassi is developing a collaborative effort to facilitate the discovery and testing of effective compounds to treat retinal degenerative disease. The project will involve multiple investigators based at three different institutions.

Wen-Hsiang Lee, Rong Wen and Elizabeth Fini
Bascom Palmer Eye Institute, University of Miami
Stem cells might accomplish retinal repair if they can differentiate into photoreceptors and make the proper synapses with other retinal cells. SanBio’s proprietary bone-marrow-derived human neural progenitor cells (SB623) are currently being developed for central nervous system indications and might be also useful for therapy of retinal degenerations. In order to determine the neuroprotective and regenerative properties of SB623 cells in the degenerating neural retina, this team will delineate the survival, integration, and differentiation of SB623 cells in three well-characterized rodent retinal degeneration models: The rat S334ter-3 and S334ter-4 models (rhodopsin mutation) and a retinal degeneration (rd1) mouse model (rod photoreceptor-specific cGMP phosphodiesterase mutation). Future plans are to explore environmental interactions that might enhance survival, integration, and differentiation of these and other candidate cell lines using knock out mouse and chemical biology approaches.

Ronald Carr, M.D. and William Seiple, Ph. D.
New York University
This grant will support retinal research at New York University’s Department of Ophthalmology.