Natural History Study of Gyrate Atrophy
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Research Summary
Drs. Mandeep Singh and David Valle
Wilmer Eye Institute, Johns Hopkins University
Conquering Gyrate Atrophy has provided $100,000 to support the Gyrate Atrophy Ocular and Systemic (GYROS) Study. GYROS characterizes the natural history of ornithine levels and retinal degeneration (RD) associated with disease-causing OAT variants in the presence of standard care dietary treatment regimens over 4 years. The research goal is to understand the impact of OAT mutations on plasma ornithine levels and retinal degeneration.. The Foundation Fighting Blindness Consortium study is co-chaired by Drs. Mandeep Singh and David Valle, Johns Hopkins School of Medicine.
This project is supported by the Food and Drug Administration (FDA) of the U.S. Department of Health and Human Services (HHS) as part of a financial assistance award [FAIN] totaling $1.6M with 46% funded by FDA/HHS and $1.9M and 54% funded by non-government source(s). The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement, by FDA/HHS, or the U.S. Government.
Researcher Profiles
Dr. Valle is a Professor in the Department of Genetic Medicine with secondary appointments in pediatrics, medicine and ophthalmology at Johns Hopkins School of Medicine. He is board-certified in clinical molecular genetics, clinical biochemical genetics, clinical genetics and pediatrics. He is the founding Director of the Johns Hopkins Center for Inherited Disease Research and Director of the Predoctoral Training Program in Human Genetics at Johns Hopkins. He is a member of the National Academy of Medicine and has made multiple seminal discoveries regarding gyrate atrophy (GA). He is a world leader on gyrate atrophy and was the first to show that deficiency of OAT is the causative biochemical defect in GA and the first to report causative mutations in the OAT gene. He has personally overseen the metabolic management of more than 50 patients with GA. His laboratory generated the first mouse model of GA, confirmed that it developed chorioretinal degeneration, and demonstrated that an arginine-restricted diet (ARD) could prevent disease progression. He has served as lead or co-author on many clinical publications about GA, including demonstration that an ARD is therapeutically beneficial in patients with GA. Most recently, he has become co-Chair of the GYROS natural history study with Dr. Singh and was the first to show that deficiency of OAT is the causative biochemical defect in GA and the first to report causative mutations in the OAT gene. He has personally overseen the metabolic management of more than 50 patients with GA.
Dr. Singh is an Assistant Professor of Ophthalmology and Genetics. He trained in medicine in Singapore, completed a PhD at the University of Oxford (U.K.) as a Merton College Graduate Prize Scholar, followed by clinical and surgical retina fellowships at Oxford Eye Hospital and Moorfields Eye Hospital in the U.K. He is a practicing retinal specialist and vitreoretinal surgeon at the Wilmer Eye Institute, Johns Hopkins Hospital. He directs the adult inherited retinal disease service and visual electrophysiology diagnostic laboratory at Wilmer. He co-Directs the Wilmer Genetic Eye Disease Center with Dr. Doyle and is a faculty member of the Stem Cell and Ocular Regenerative Medicine (STORM) Center. His laboratory research centers on retinal regenerative medicine, with a focus on cell and gene therapy including photoreceptor regeneration and host tissue responses. He has developed novel gene and cell therapy surgical delivery approaches that are safe for children. He is study Chair of the multicenter Gyrate Atrophy Ocular and Systemic (GYROS) study, working closely with Co-Chair Dr. David Valle. He leads several clinical trials and studies on inherited retinal diseases at Johns Hopkins and is a Hartwell Investigator.
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