American scientists identify gene causing rare genetic eye disease

According to a new study published this week in the journal JAMA Ophthalmology, American researchers have identified the gene that causes several inherited retinal diseases (IRDs) – a group of disorders that damage the retina, the eye's light-sensitive organ, and threaten a person's vision.

A gene causing a rare inherited eye disease has been discovered. (Illustrative image. Source: iStock)

The U.S. National Institutes of Health (NIH) says IRD affects more than 2 million people worldwide.

Each individual disease is rare, further complicating efforts to identify enough people for research and to conduct clinical trials aimed at developing treatments.

In a study funded by the NIH, scientists and experienced physicians discovered that the UBAP1L gene is associated with various forms of retinal dystrophy, including macular hole disease, cone cell dystrophy, and rod cell dystrophy.

Co-author of the study, ophthalmologist Laryssa A. Huryn at the NIH National Eye Institute, said the findings underscore the importance of providing genetic testing for patients with retinopathy.

Furthermore, this finding highlights the importance of collaboration between clinics and laboratories to better understand retinal diseases, thereby paving the way for genetic testing, clinical trials, and the development of appropriate therapies.

Source: https://baoquocte.vn/gioi-khoa-hoc-my-xac-dinh-duoc-gene-gay-benh-mat-di-truyen-hiem-gap-288106.html