Translational Retinal Research & Therapies
Samuel G. Jacobson, MD, PhD, is Professor of Ophthalmology at Scheie Eye Institute of the University of Pennsylvania. He focuses on human genetic retinal degenerations to decipher the complex retinal response to genetic injury. This clinical research has been accelerated by the longstanding and strong collaboration with Professor Gustavo D. Aguirre, whose basic science and translational research built the bridge to the clinic. Dr. Jacobson designed the first NEI/NIH-sponsored human clinical trial to treat a childhood-onset retinal blindness, and led a multidisciplinary team that safely and successfully improved patients’ vision. With consortiums of investigators he now is planning or performing treatment trials for many forms of syndromic and non-syndromic retinal degenerations.
José-Alain Sahel is a clinician-scientist conducting research on vision restoration in retinal degenerative diseases. His main interests focus on cellular and molecular mechanisms underlying retinal degeneration, and development of treatments for currently untreatable retinal diseases by resorting to pharmacological treatments, gene therapy, stem-cell therapy and retinal prosthesis. He is Professor and Chairman of the Department of Ophthalmology at the University of Pittsburgh Medical School and The Eye and Ear Foundation Endowed Chair, and Professor of Ophthalmology at Pierre & Marie Curie University - Sorbonne Universities, Founder and Director of The Vision Institute, Paris, France (20 principal investigators, more than 300 staff members). He coordinates the Paris-based Ophthalmology Clinical Investigation Center, overseeing more than 70 clinical trials, some of them within the most advanced areas of biomedical technologies, such as retinal implants and gene therapy. He co-authored over 490 peer-reviewed articles and more than 40 patents.
Paul Sieving, MD, PhD
Dr. Sieving became director of the National Eye Institute, NIH, in 2001. He came from the University of Michigan Medical School where he was the Paul R. Lichter Professor of Ophthalmic Genetics and the founding director of the Center for Retinal and Macular Degeneration in the Department of Ophthalmology and Visual Sciences.
Dr. Sieving is known internationally for studies of human progressive blinding genetic retinal neurodegenerations, including retinitis pigmentosa, and rodent models of these conditions.
OPTOGENETIC VISION RESTORATION
Professor of Vision Science and Neuroscience, School of Optometry and the Dept. of Molecular and Cell Biology and the Helen Wills Neuroscience Institute.
My research program is focused on understanding the genetic and biochemical underpinnings of inherited retinal degenerations and designing genetic therapies for these blinding conditions. The expertise of my laboratory group is directed toward developing viral vectors for gene therapy and gene transfer to retinal neurons, epithelia and glia. We have developed small animal models of retinal degenerations and treatments for these conditions for over 30 years.
Dr. Hardcastle is a Professor of Molecular Genetics at the University College of London and the Deputy Director of UCL Institute of Ophthalmology.
Lab research focus: Inherited eye disease, from gene discovery to defining cellular function through to development of potential therapies, with a particular interest in X-linked forms of retinal degeneration. Our molecular genetic and functional research coupled with phenotypic studies lead to new discoveries that influence patient care.
We are defining genetic mechanisms of disease and function of disease proteins in the retina, lens, cornea and developing eye, and have harnessed technological advances in next generation sequencing and stem cell biology to address our research questions.
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