PRPH2 and Associated Retinal Diseases Workshop

Day One Recordings

WELCOME AND WORKSHOP GOALS

Jason Menzo, CEO, Foundation Fighting Blindness
Brandon Nixon, MBA, Chairman and CEO, Lytx

SURVEY OUTCOME AND PATIENT PERSPECTIVES

In this session, we presented the results of the survey conducted to better understand the impacts of PRPH2 on the
lives of affected individuals and heard directly from two of them.

Todd Durham, PhD, Senior Vice President, Clinical and Outcomes Research, Foundation Fighting Blindness
Tim Smith, Patient Advocate
Damon Lembi, Patient Advocate

RETINA BIOLOGY AND IRDS: THE BASICS

This session provided background information on the retina and inherited retinal degenerations (IRDs).

Claire Gelfman, PhD, Chief Scientific Officer, Foundation Fighting Blindness

CLINICAL PERSPECTIVES

In this session, researchers discussed patient genetics, disease characteristics and progression, and the findings from a recent natural history study.

Radha Ayyagari, PhD, Professor of Ophthalmology and Pathology, Viterbi Family Chair III, Shiley Eye Institute, University of California, San Diego
Shyamanga Borooah, MBBS, PhD, Assistant Clinical Professor of Ophthalmology, Shiley Eye Institute, University of California, San Diego
Fred K. Chen, MBBS, PhD, Associate Professor, Lions Eye Institute, Australia
Rachael Heath Jeffery, MChD, Resident, Lions Eye Institute, Australia

KEYNOTE LECTURE

Workshop co-chair Shyamanga Borooah MBBS, PhD, introduced the keynote speaker

“The role of peripherin 2 in retinal health and disease”

Muna Naash, PhD, John S Dunn Endowed Professor of Biomedical Engineering, University of Houston
“The role of peripherin 2 in retinal health and disease”

PRPH2 BASIC SCIENCE AND MODELS

This session provided information about our knowledge of the PRPH2 gene and protein, its function, and models that can further our understanding.

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
James Birtley, PhD, Principal Scientist, Epsilogen Ltd.
Vadim Arshavsky, PhD, Helena Rubinstein Foundation Distinguished Professor of Ophthalmology, Duke University
Shannon Conley, PhD, MPH, Assistant Professor of Cell Biology, The University of Oklahoma Health Sciences University
Deepak Lamba, MBBS, PhD, Associate Professor of Ophthalmology, University of California, San Francisco

FIRESIDE CHAT WITH DR. ANGELA BOWMAN

Amy Laster, PhD, SVP, Science Strategy and Awards with the Foundation Fighting Blindness, will lead a discussion with Angela
Bowman, PhD, who recently joined the Foundation Fighting Blindness as Science Advocacy Lead, with a focus on PRPH2.

PATIENT RESOURCES

This session provided information about the understanding of genetic testing results and clinical trials, as well as how nutrition can affect retinal health.

Kari Branham, MS, CGC, Assistant Professor, Ophthalmology and Visual Sciences, Genetic Counselor, Inherited Retinal
Dystrophy Clinic, Kellogg Eye Center, University of Michigan
Todd Durham, PhD, Senior Vice President, Clinical and Outcomes Research, Foundation Fighting Blindness
David Birch, PhD, Director, Retina Foundation of the Southwest

WORKSHOP DAY ONE: SUMMARY AND DISCUSSION
Workshop co-chairs, Claire Gelfman, PhD, and Radha Ayyagari, PhD, summarized key takeaways from day one.

Claire Gelfman, PhD, Chief Scientific Officer, Foundation Fighting Blindness
Radha Ayyagari, PhD, Professor of Ophthalmology and Pathology, Viterbi Family Chair III, Shiley Eye Institute, University of California, San Diego

Day Two Recordings

WELCOME AND PATIENT PERSPECTIVES

Following a welcome from workshop co-chair Shyamanga Borooah, MBBS, PhD, this session featured another patient perspective.

Shyamanga Borooah, MBBS, PhD, Assistant Clinical Professor of Ophthalmology, Shiley Eye Institute, University of California, San Diego
Lisa Rosado, Patient Advocate

THERAPEUTIC APPROACHES

In this session, researchers discussed potential therapeutic approaches for treating PRPH2-associated retinal disease.

Angela Bowman, PhD, Science Advocacy Lead, Foundation Fighting Blindness
Rob Collin, PhD, Principal Investigator, Department of Human Genetics, Radboud University Medical Center
Peter Quinn, PhD, Principal Investigator and Associate Research Scientist, Columbia University
François Paquet-Durand, PhD, Professor, Institute for Ophthalmic Research, Tubingen University

EMERGING THERAPIES ROUNDTABLE

This roundtable discussion featured representatives from companies with therapies that are applicable to PRPH2-associated disease.

Dan Chung, DO, MA, Chief Medical Officer, SparingVision
Aaron Osborne, MD, MBBS, Chief Medical Officer and Chief Development Officer, Nanoscope Therapeutics
Ash Jayagopal, PhD, Chief Scientific Officer, Opus Genetics

SUMMARY AND NEXT STEPS
Following a final patient perspective, Amy Laster, PhD, summarized the meeting and discuss next steps.