Scientists Discover Gene Responsible for Rare, Hereditary Eye Disease

Press release

Thursday, September 26, 2024

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The NIH findings will pave the way for clinical trials and therapeutic development.

Ophthalmic photographs of the probands in this study show a variety of forms and severity levels for retinal dystrophy.Bin Guan Ph.D.

Scientists at the National Institutes of Health and their collaborators have discovered a gene that causes inherited retinal disorders (IRDs). These are a group of diseases that damage the retina's ability to detect light and can threaten vision. IRDs are rare diseases that affect more than 2 million people worldwide, making it difficult to find enough patients to conduct trials and studies to help develop a treatment. Today's study is published in JAMA Ophthalmology.

The researchers linked the genes of six participants who were not related in a study that included only six people. UBAP1L There are different types of retinal dystrophies. These include problems with the macula (the part of the eye used for central vision or reading) (maculopathy), problems with the cones that allow color vision (cone dystrophy), and a disorder that also affects the rods, which allow night vision. Patients began to have symptoms of retinal degeneration in early adulthood and progressed to severe vision loss in the later stages.

Bin Guan Ph.D. is the head of the Ophthalmic Genomics Laboratory at the NIH National Eye Institute and a lead author of the report. Now that the cause of the disease has been identified, researchers can study how this genetic defect leads to the disease and develop a treatment.

Identification of UBAP1L The involvement of one gene adds more than 280 other genes responsible for the heterogeneous nature of this disease.

The results of this study highlight the need for genetic testing in patients with retinal dystrophy. They also show the value of collaboration between clinics and laboratories to understand the disease. Laryssa Huryn is an ophthalmologist and lead author of the article at the National Eye Institute (NEI), part of the National Institutes of Health.

Genetic analysis of six patients identified four variations in their genes. UBAP1L The gene encodes a protein that is highly expressed by retinal cells, including the retinal pigment epithelium and photoreceptors. More research is needed to fully understand this gene. UBAP1L Scientists were unable to determine the exact function of the gene, but they determined that the variants identified likely caused the gene to produce a protein with no function.

The fact that the variations appear to be specific to geographic regions will inform future studies. The study involved five families from South Asia or Polynesia. These regions are underrepresented in genetic research.

Researchers from Moorfields Eye Hospital in London and University College London led the research.

This study was supported by NEI grants R01EY022356, R01EY020540, and the NEI Intramural Program. This report was also authored by researchers at Baylor College of Medicine in Houston, Texas, and the University of Liverpool, United Kingdom.

This press release summarizes a discovery from basic research. Basic research helps us understand human behavior and the biology of disease. Every research breakthrough builds on previous discoveries in unpredictable ways. Without basic research, most clinical breakthroughs would not be possible. Visit this site to learn more about the basics of research. https://www.nih.gov/news-events/basic-research-digital-media-kit.

The NEI is the lead federal agency for research into eye diseases and the visual system. The NEI funds basic and clinical research programs that develop treatments to save sight and address the special needs of people with low vision. Visit for more information. https://www.nei.nih.gov.

National Institutes of Health: The NIH is the national medical research agency of the U.S. Department of Health and Human Services. It consists of 27 institutes and centers. The NIH, the national medical research agency, consists of 27 institutes and centers and is part of the U.S. Departments of Health and Human Services. Visit the NIH website for more information about its programs and services. www.nih.gov.

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