University of Washington researchers to study the genetic causes of inherited retinal diseases
Tim Cherry, PhD, and Debarshi Mustafi, MD, PhD, have been awarded a $150,000 Clinical & Research Synergy Pilot Award from Seattle Children’s Research Institute to determine the genetic causes of unsolved inherited retinal diseases.
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Researchers at the University of Washington have been awarded a $150,000 Clinical & Research Synergy Pilot Award from Seattle Children’s Research Institute to determine the genetic causes of unsolved inherited retinal diseases (IRDs).
Tim Cherry, PhD, an associate professor in the Department of Pediatrics and Adjunct Associate Professor of Ophthalmology, and Debarshi Mustafi, MD, PhD, an assistant professor in the Department of Ophthalmology, are conducting the research.
According to a University of Washington Department of Ophthalmology news release, IRDs affect one in 3,000 people, and nearly a third of cases will have inconclusive genetic testing, which limits therapeutic opportunities that may restore sight. The precise identification of genotypic causes of IRDs has taken on new importance as treatment is only indicated for specific genetic defects, especially with the emergence of retinal stem-cell-based therapies.1
Mustafi, a pediatric retina specialist at Seattle Children’s Hospital and, in connection with the genetics department, works in a focused clinic to identify IRD patients to coordinate their phenotypic workup and genetic testing.
While a large number of patients received a causative diagnosis, many families were left with results that were not concludes, particularly when variants of uncertain significance were detected that could require additional research into their possible pathogenicity.
Mustafi and Cherry partnered in an effort to help provide additional disease insight and develop gene-editing techniques to correct these changes in patient cells. UW noted in its news release The Cherry Lab investigates how the visual system develops and how genetic variations contribute to blindness and other visual disorders.1
Mustafi will lead the clinical portion of this project, and Cherry will head up the project's research component.
UW noted in its news release that during the research, the team hopes to enhance the IRDs using patient-derived retinal organoids. As they examine genetic causes, mechanistic features, and therapeutic targets, the investigators hope to address the challenges patients face with inconclusive genetic testing results. Relying on their expertise and research capabilities, Cherry and Mustafi hope they will provide some insights into IRDs and explore gene editing therapeutic strategies.
