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 is to bring awareness and build community across PRPH2-related retinal disease and accelerate related research on biological and therapeutic approaches. We hope this workshop will:
- Raise awareness of PRPH2 mutations and build community.
- Facilitate knowledge sharing, illuminate the current landscape, and identify key gaps and next steps.
- Serve as a launching point for a high-impact research funding initiative.
Who Should Attend
Individuals with mutations in PRPH2 and their families and caregivers are encouraged to attend. We also invite participation from physicians who see retinal degeneration patients, researchers who work on PRPH2 or who are interested in working on it in the future, and companies who are developing or planning on developing therapies for PRPH2-associated diseases. While the focus of the workshop will be on PRPH2, several sessions will address topics relevant to autosomal dominant retinal degenerations in general; individuals, physicians, researchers, and companies interested in autosomal dominant IRDs are also welcome to attend.
What to Expect
This Workshop is 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 will also include a roundtable on emerging therapies with representatives from industry.
Importantly, we will also hear 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 will focus on PRPH2-associated retinal disease, the topics discussed will also have applicability to other autosomal dominantly inherited retinal degenerations.
Members of the My Retina Tracker Registry (MRTR) who have indicated that they have had genetic testing that identified a variant in the PRPH2 gene will be sent a link to an online survey regarding their personal journey, as well as expectations and perspectives on emerging possible treatments and therapies. These results will inform the clinicians and researchers attending this workshop. This is an important opportunity for Registry members to participate in the research and is vital to the success of this discussion. We also welcome participation from individuals not currently in the MRTR, with the hope of galvanizing and learning from the entire PRPH2 community.
The workshop will be held in-person on March 29-31, 2023, at the Hilton La Jolla Torrey Pines in San Diego, CA.
- Sessions will feature 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, will serve as workshop co-chairs.
- The workshop is co-led by the Foundation Fighting Blindness, the Nixon Visions Foundation, and the Shiley Eye Institute at UCSD.
- We anticipate attendance and participation 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.