Significant funding to support studies of the PRPH2 gene linked to macular dystrophy
In healthy vision, a gene called PRPH2 provides instructions for making a protein called peripherin 2 (PRPH2), which plays a key role in the normal functioning of the light- and color-sensing photoreceptors lining the back of the eye.
When there are mutations in the PRPH2 gene, the result can be macular dystrophy, a deterioration of the retina that progressively decreases the ability to see clearly and can eventually lead to vision loss. Currently, there are no effective treatments to delay or prevent the condition.
The Nixon Visions Foundation, led by philanthropists Brandon and Janine Nixon, has made a significant gift to the Viterbi Family Department of Ophthalmology and the Shiley Eye Institute, both part of UC San Diego Health, to launch the Dystrophy Research Fund Macular-PRPH2 from the Nixon Visions Foundation. , which will focus on studies of the PRPH2 gene and related mutations and will help update stem cell technologies that may eventually provide a proven therapeutic remedy. The Nixon Visions Foundation is also building capabilities with Foundation Fighting Blindness to further advance national and global research in this space as part of this effort.
We are impressed with the impressive work at UC San Diego and specifically in the Department of Ophthalmology and the Shiley Eye Institute. We believe this gift can accelerate efforts to make a tremendous impact on people with this inherited eye disease and will improve the lives of future generations.”
Brandon and Janine Nixon, philanthropists, Nixon Visions Foundation
“Macular dystrophy is such a challenging disease for those living with it, but UC San Diego Health has the experience to discover new ways to treat this disease and create a healthier world,” said UC San Diego Chancellor Pradeep Khosla. . “Thanks to the generosity of the Nixon Visions Foundation, we are able to search for the most promising leads and follow the science wherever it leads.”
Macular dystrophy is a relatively rare eye condition. It affects the central retina, or macula, which has the highest concentration of light-sensitive cells, or photoreceptors. It is different from the more common eye disease known as macular degeneration, which is often caused by age-related deterioration of the retina and macula. Macular dystrophy is associated with genetic mutations that, for no known reason, trigger the degradation of retinal cells. Some forms of the disease appear in childhood; some in adulthood.
“There really are no viable therapies for macular dystrophy and even less promising leads to developing them, but in our work we believe we have found one. But that work is still in its early stages, so for me and my colleagues, just like the Dr. Radha Ayyagari, funding like this from the Nixon Visions Foundation is crucial to understanding the causes and treating the disease,” said Shyamanga Borooah, MD, assistant professor of ophthalmology at Shiley Eye Institute and one of the investigators on the PRPH2 research project. .
Professors from the Viterbi Family Department of Ophthalmology and the Shiley Eye Institute are among the leaders in basic research investigating the causes of eye diseases and finding remedies. The institute houses the Joan and Irwin Jacobs Retina Center.
“The Shiley Eye Institute is at the forefront of vision research and eye care, and we know that macular dystrophy is a devastating diagnosis,” said Robert Weinreb, MD, Shiley Eye Institute Director, Chairman of the Department of Ophthalmology of the Viterbi Family and Distinguished Professor of Ophthalmology. “We are confident that there is no better place to understand this disease and innovate therapies for it than UC San Diego Health.”
Patty Maysent, CEO of UC San Diego Health agreed: “Shiley Eye Institute represents some of the best eye care and research in the world. We are honored to be supported by the Nixon Visions Foundation in such a tangible and meaningful way.” .
Philanthropic gifts, like the one from Brandon and Janine Nixon, contribute to the Campaign for UC San Diego, a comprehensive university-wide fundraising effort that concludes in 2022. Together with UC San Diego’s philanthropic partners, the university continues his untraditional path to revolutionary ideas, unexpected answers, life-saving discoveries, and planet-changing impact. To learn more about how to support the excellent research, education, and care taking place in UC San Diego Health Sciences, visit campaign.ucsd.edu.