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.
A detailed agenda will follow.
- Wednesday, March 29, 2023
- 5:00 PM - Welcome Reception
- Thursday, March 30, 2023
- 8:00 AM - 9:00 AM - Breakfast
- 9:00 AM - 5:00 PM - Welcome and Scientific Workshops
- 12:40 PM - 1:30 PM - Lunch
- 5:30 PM - 8:30 PM - Dinner and Networking
- Friday, March 31, 2023
- 8:00 AM - Breakfast
- 9:00 AM - 12:30 PM - Welcome and Scientific Workshops
- 12:30 PM - Lunch
- 1:00 PM - Meet the Doctor or Shiley Eye Institute Lab Tours
A landscape analysis document will be provided to participants in mid-March.
- 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
- 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
Please complete the registration form by clicking here. Note that registration for the workshop does not include hotel accommodations. Travel and lodging reservations should be made separately by each participant. See below for venue and lodging information.
Venue and Hotel Information
The workshop will be held at the Hilton La Jolla Torrey Pines, 10950 North Torrey Pines Rd, La Jolla, CA, 92037. The hotel is approximately 20 minutes north of the San Diego International Airport and downtown San Diego.
We have reserved a block of rooms, with a discounted rate of $229/night. Please use this link to book a hotel room within this block or call the hotel directly at 1-877-414-8020 and use the code FFBW23.
The following meals will be provided:
- Wednesday, March 29, 2023 - Dinner
- Thursday, March 30, 2023 - Breakfast, Lunch, and Dinner
- Friday, March 31, 2023 - Breakfast and Lunch
Questions? Please contact Angela Bowman, PhD at ABowman@FightingBlindness.org.