Scientists at the U.S. National Institutes of Health (NIH) have made a significant breakthrough in the fight against inherited retinal diseases (IRDs). Publishing their findings in JAMA Ophthalmology, the team has identified the UBAP1L gene as a key player in several forms of retinal dystrophies, including maculopathy and cone-rod dystrophy.
IRD affects over 2 million individuals worldwide, posing a substantial threat to vision. The rarity of each specific disorder has made it challenging for researchers to gather sufficient data for comprehensive studies and clinical trials aimed at developing effective treatments.
The discovery of the UBAP1L gene not only enhances the understanding of these eye conditions but also opens new avenues for genetic testing and therapy development. According to Laryssa A. Huryn, an ophthalmologist at NIH's National Eye Institute and co-senior author of the study, \"These findings highlight the importance of providing genetic testing to our patients with retinal dystrophy, and the value of the clinic and lab working together to better understand retinal diseases.\"
This advancement marks a promising step towards more personalized and effective interventions for those affected by inherited retinal diseases, offering hope for millions around the globe.
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U.S. researchers discover gene responsible for inherited eye disease
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