Inaugural Grants Awarded in PRPH2 Research Program

Advancing Research Solutions for PRPH2-Associated Retinal Diseases

The Foundation Fighting Blindness, in collaboration with the Nixon Visions Foundation, has announced the recipients of the first awards in the PRPH2 and Associated Retinal Diseases (PARD) Program. These grants mark a significant milestone in advancing research into retinal diseases caused by mutations in the PRPH2 gene.

Following an extensive international call for proposals, the Foundation has awarded nearly $1 million to two distinguished 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 three years through the collaboration between the Foundation Fighting Blindness and the Nixon Visions Foundation.

“These inaugural grants represent a significant investment in cutting-edge research aimed at understanding and ultimately treating PRPH2-related retinal diseases,” says Amy Laster, PhD, senior vice president, science strategy and awards at the Foundation Fighting Blindness. “By funding these projects, we are accelerating progress toward innovative therapies that could restore vision and improve the quality of life for individuals affected by these conditions. This is a pivotal moment in inherited retinal disease research, and we are excited to see the transformative discoveries that will emerge from this collaboration.”

“We are proud to provide financial support to these exceptional researchers in their pursuit of novel therapies for PRPH2-associated retinal diseases,” added Brandon Nixon, chief executive officer at the Nixon Visions Foundation. “We look forward to the important discoveries these initial grants will yield as part of our foundation’s multi-year PRPH2 research funding initiative. We are committed to advancing the science that will lead to treatments and cures for these diseases.”

Mutations in the PRPH2 gene are a leading cause of retinal degenerations such as retinitis pigmentosa and certain macular dystrophies. The focus of the research funded by these awards include:

• 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.
• 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 Foundation Fighting Blindness remains committed to driving progress in retinal disease research through strategic partnerships and targeted funding initiatives. With ongoing support from visionary collaborators like the Nixon Visions Foundation, the Foundation continues to champion innovative solutions that hold promise for those impacted by blinding diseases.

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.

About the Foundation Fighting Blindness

Established in 1971, the Foundation Fighting Blindness is the world’s leading private funding source for retinal degenerative disease research. The Foundation has raised more than $915 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of blinding retinal diseases including: retinitis pigmentosa, macular degeneration, and Usher syndrome. Visit FightingBlindness.org for more information.

About the Nixon Visions Foundation

Nixon Visions Foundation is dedicated to the support of organizations and individuals who are striving to reach their potential. Based in San Diego, the foundation provides scholarships and other funding for education, science, and community programs. Its current initiative is to provide meaningful support for scientific research leading to critical treatments and, ultimately, cures for rare inherited retinal degenerative diseases through partnerships with the Foundation Fighting Blindness and UC San Diego Health’s Shiley Eye Institute, each targeting rare gene mutations such as those of the PRPH2 gene. Visit www.nixonvisionsfoundation.org.