PRPH2 and Associated Retinal Diseases Workshop

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Workshop Introduction

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.

Workshop Goals

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:

  1. Raised awareness of PRPH2 mutations and built community.
  2. Facilitated knowledge sharing, illuminated the current landscape, and identified key gaps and next steps.
  3. 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.

Workshop Format

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.

Workshop Presenters

Scientific Presenters

  • 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

Industry Presenters

  • 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