GREENWOOD, S.C. — Gavin Arno, PhD, Associate Director of Research at the Greenwood Genetic Center (GGC), has received a three-year $300,000 Individual Investigator Research Award from the Foundation Fighting Blindness to develop new approaches for identifying the genetic causes of inherited retinal diseases, a leading cause of blindness worldwide.
The project, “Discovering New Mechanisms of Inherited Retinal Dystrophy Using Targeted and Genome-Wide Long-Read Sequencing,” will use advanced DNA sequencing technologies to uncover disease-causing genetic changes that often go undetected with current testing methods.
Inherited retinal dystrophies are a group of genetic conditions that progressively damage the retina, leading to vision loss and blindness. Although hundreds of genes have been linked to these disorders, many patients never receive a definitive genetic diagnosis, limiting access to genetic counseling, clinical trials, and emerging gene therapies.
“Advances in gene-based therapies have made an accurate genetic diagnosis more important than ever,” said Arno. “Our goal is to identify genetic changes that have remained hidden, provide answers for families who have gone undiagnosed, and help more patients become eligible for precision treatments as they become available.”
Using long-read DNA sequencing, Arno’s team will evaluate whether the technology can improve genetic diagnosis, search for previously undiscovered causes of inherited retinal disease, and determine how newly identified genetic variants disrupt normal gene function.
The research is expected to improve understanding of inherited retinal diseases while helping close the diagnostic gap that remains for many patients despite extensive genetic testing.
“We’re pleased to see GGC’s innovative research recognized and supported by the Foundation Fighting Blindness,” said Dr. Steve Skinner, President and Chief Executive Officer of Greenwood Genetic Center. “Dr. Arno has built an impressive body of work that combines cutting-edge genomic technology with a strong commitment to improving the lives of patients and families affected by inherited retinal diseases. This project is an exciting next step in that effort.”
The project builds on Arno’s previous National Institutes of Health-supported research and supports the Foundation Fighting Blindness’ mission to accelerate treatments and cures for inherited retinal diseases.
Inherited retinal dystrophies affect an estimated 5.5 million people worldwide. As new gene-based therapies continue to emerge, improving the ability to identify the underlying genetic cause of disease is essential for expanding access to personalized care and future sight-saving treatments.