NIH Scientists Identify Gene Linked to Rare Eye Disease

Researchers at the National Institutes of Health (NIH) have discovered the UBAP1L gene as a cause of certain inherited retinal diseases (IRDs), which impact over 2 million people worldwide, SciTech Daily reported yesterday.

The findings, published in JAMA Ophthalmology, emerged from a study involving six unrelated participants who exhibited symptoms of retinal dystrophy, including maculopathy and cone-rod dystrophy, starting in early adulthood.

Dr. Bin Guan, chief of the Ophthalmic Genomics Laboratory at NIH’s National Eye Institute (NEI), emphasized the significance of identifying the gene, stating it allows for further investigation into how gene defects lead to vision loss and potential treatments. The study revealed four variants in the UBAP1L gene, which is crucial for retinal cell function. Co-author Dr. Laryssa A. Huryn highlighted the importance of genetic testing for patients with retinal dystrophies.

Future research will focus on understanding the gene’s role and its geographic variations, particularly in underrepresented populations from South Asia and Polynesia.