PRPH2 and Associated Retinal Diseases Workshop
The urgent mission of the Foundation Fighting Blindness is to drive the research that leads to preventions, treatments, and cures for degenerative retinal diseases, including those caused by mutations in the PRPH2 gene. Mutations in PRPH2 lead to a variety of dominantly inherited retinal dystrophies, including retinitis pigmentosa, cone-rod dystrophy, pattern dystrophy, and others.
The main goal of the workshop was to bring awareness and build community across PRPH2-related retinal disease and accelerate related research on biological and therapeutic approaches. The workshop:
- Raised awareness of PRPH2 mutations and built community.
- Facilitated knowledge sharing, illuminated the current landscape, and identified key gaps and next steps.
- Served as a launching point for a high-impact research funding initiative.
What to Expect
This Workshop was designed to bring together affected individuals and their families, in addition to leading experts from academia and industry, in order to discuss openly, and in detail, what is known about PRPH2 disease pathology, disease models, clinical characteristics, and therapeutic approaches. The agenda included a roundtable on emerging therapies with representatives from industry.
Importantly, we heard from affected individuals and their families in order to ensure their perspectives for care, treatment and therapies inform both research and clinical studies. While this workshop focused on PRPH2-associated retinal disease, the topics discussed also had applicability to other autosomal dominantly inherited retinal degenerations.
The workshop was held on March 29-31, 2023, at the Hilton La Jolla Torrey Pines in San Diego, CA.
- Sessions featured presentations from scientific leaders, as well as round-table discussions and opportunities for networking among affected individuals and their families, researchers, and physicians.
- Claire Gelfman, PhD, Chief Scientific Officer, Foundation Fighting Blindness, Radha Ayyagari, PhD, University of California, San Diego (UCSD), Shiley Eye Institute, and Shyamanga Borooah, MD, PhD, Shiley Eye Institute, UCSD, served as workshop co-chairs.
- The workshop was co-led by the Foundation Fighting Blindness, the Nixon Visions Foundation, and the Shiley Eye Institute at UCSD.
- Attendance and participation consisted of affected individuals and family members of those harboring a PRPH2 mutation, in addition to researchers, physicians, and companies.
- Questions about the workshop should be addressed to Angela Bowman, PhD, Science Advocacy Lead, Foundation Fighting Blindness, at ABowman@FightingBlindness.org.
- Steve Daiger, PhD
Director, Laboratory for Molecular Diagnosis of Inherited Eye Diseases, Professor, Human Genetics Center, School of Public Health and Ruiz Department of Ophthalmology and Visual Science, UTHealth
- Radha Ayyagari, PhD
Professor of Ophthalmology and Pathology, Chief of Ophthalmic Molecular Genetics Laboratory, Viterbi Family Chair III
Shiley Eye Institute, University of California, San Diego
- Muna Naash, PhD
John S Dunn Endowed Professor of Biomedical Engineering, University of Houston
- Vadim Arshavsky, PhD
Helena Rubinstein Foundation Distinguished Professor of Ophthalmology, Duke University
- Shyamanga Borooah, MBBS, PhD
Assistant Clinical Professor of Ophthalmology, Shiley Eye Institute, University of California, San Diego
- Francois Paquet-Durand, PhD
Professor, Institute for Ophthalmic Research, Tubingen University
- Peter Quinn, PhD
Principal Investigator and Associate Research Scientist, Columbia University
- Fred K. Chen, MBBS, PhD
Associate Professor, Lions Eye Institute, Australia
- Deepak Lamba, MBBS, PhD
Associate Professor of Ophthalmology, University of California, San Francisco
- Shannon Conley, PhD
Assistant Professor of Cell Biology, The University of Oklahoma Health Sciences University
- Kari Branham, MS, CGC
Assistant Professor, Ophthalmology and Visual Sciences, Genetic Counselor, Inherited Retinal Dystrophy Clinic, Kellogg Eye Center, University of Michigan
- Rob Collin, PhD
Principal Investigator, Department of Human Genetics, Radboud University Medical Center
David Birch, PhD
Director, Retina Foundation of the Southwest
James Birtley, PhD
Principal Scientist, Epsilogen, Ltd
- Daniel Chung, MD
Chief Medical Officer, Sparing Vision
- Eric Daniels MD, MBA
Chief Development Officer, Kiora Pharmaceuticals
Ash Jayagopal, PhD
Chief Scientific Officer, Opus Genetics
Foundation Fighting Blindness Participants
- Claire Gelfman, PhD
Chief Scientific Officer
- Todd Durham, PhD
Senior Vice President, Clinical and Outcomes Research
- Ben Shaberman
Vice President, Science Communications
- Angela Bowman, PhD
Science Advocacy Lead
Amy Laster, PhD
Senior Vice President, Science Award and Strategy
Link Request for Workshop Recording
Are you interesed in receiving a link to the recording and materials from the PRPH2 and Associated Retinal Diseases Workshop held on March 29-31, 2023? Please complete the request form below and a member from our Chapter team will connect with you. If you need any assistance with your submission, please email Nathan Clookie at NClookie@FightingBlindness.org
The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases. The Foundation is a beacon for those affected by these blinding diseases. Join the fight and help us accelerate our mission.
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