People with blinding retinal diseases caused by PRPH2 gene mutations gathered in La Jolla CA to learn what is known about their condition and about the latest advances in research to understand and develop treatments and preventions. From March 29-31, a community of patients, families, scientists, and biotech industry experts from around the world engaged in this unique and extraordinary opportunity to connect, share and accelerate research.
Over two days, leading experts presented and discussed the current landscape about PRPH2 disease pathology, disease models, clinical characteristics and potential therapeutic approaches to treating the rare conditions that cause low-vision and blindness. Patients learned there are nearly 200 known mutations of the PRPH2 gene which is responsible for the expression of peripherin-2, a protein essential for the healthy function and survival of rod and cone photoreceptors. They also learned these mutations are a leading cause of autosomal dominant inherited retinal diseases ranging from retinitis pigmentosa (peripheral vision loss) to macular dystrophies (central vision loss). Many in the group were affected by these diseases and only in recent years learned the cause of their disease through genetic testing.
The workshop was a collaboration of the Nixon Visions Foundation, the Foundation Fighting Blindness and UCSD Health’s Shiley Eye Institute. It is the first time researchers and scientists have convened specifically with a large group of individuals and family members who are directly affected by PRPH2-related diseases. Many expressed appreciation for the patients who shared their personal experiences about vision loss and blindness in their families. Likewise, affected individuals and their family members were inspired by the research, knowledge and dedication of the scientific, academic and industry attendees.
Esteemed experts from universities and laboratories worldwide—including keynote speaker Muna Naash, PhD, from the University of Houston—presented their research findings and goals. In addition, representatives from SparingVision, Nanoscope Therapeutics and Opus Genetics discussed clinical trials for therapeutics that may be applicable to PRPH2-related diseases.
The Nixon Visions Foundation, co-founded by Brandon and Janine Nixon, provided major funding for the workshop. Co-chairs were Claire Gelfman, PhD, Chief Scientific Officer, Foundation Fighting Blindness (FFB); and Radha Ayyagari, PhD, and Shyamanga Borooah, MBBS, PhD, both of the Viterbi Family Dept of Ophthalmology at UCSD Shiley Eye Institute.
Amy Laster, PhD, SVP of Science Strategy and Awards for the FFB, closed out the conference by announcing a new grant program, funded by the Nixon Visions Foundation, to support new and ongoing research opportunities to accelerate treatments and cures for PRPH2-related diseases. Scientific Grants and Awards Programs — Foundation Fighting Blindness