The Foundation Fighting Blindness announced the recipients of the first awards in the PRPH2 and Associated Retinal Diseases Program. According to the Foundation, the grants mark a significant milestone in advancing research into retinal diseases caused by mutations in the PRPH2 gene. 
 
Following an international call for proposals, the Foundation awarded nearly $1 million to two researchers: Andrew Goldberg, PhD, of Oakland University, and Yoshikazu Imanishi, PhD, of Indiana University. These awards are the first of six anticipated grants to be distributed over 3 years through the collaboration between the Foundation Fighting Blindness and the Nixon Visions Foundation, the Foundation said in a press release. 
 
The focus of the research funded by these awards include:

• Dr. Andrew Goldberg of Oakland University — Natural History and AAV-Mediated Interventions for Dominant Negative and Haploinsufficient Mouse Models of PRPH2-Associated Disease. These studies will provide thorough characterization of two mouse models of PRPH2-associated disease and test whether providing a functional copy of PRPH2 can prevent or slow disease progression.
• Dr. Yoshikazu Imanishi of Indiana University — Elucidating Pathophysiological Mechanisms and Advancing High-Throughput Drug Discovery in PRPH2-Related Retinal Dystrophies. This study aims to identify small molecules that can help mutant PRPH2 localize to photoreceptor outer segments and to understand how rods and cones are differentially affected by mutant PRPH2 protein.

The PRPH2 and Associated Retinal Diseases Program, established in partnership with the Nixon Visions Foundation, was unveiled in March 2023 during a joint workshop focused on PRPH2. This initiative emerged from a consensus among retinal disease experts regarding critical research gaps within the field:

• The need for a better understanding of PRPH2 basic biology, including its differential role in rods and cones.
• The development of high-throughput assays to determine the functional consequences of PRPH2 variants.
• The creation and characterization of accurate animal models.
• An improved understanding of disease heterogeneity.
• Studies that demonstrate proof-of-concept for therapeutic approaches, especially mutation-agnostic approaches.