Blindness Could Be Prevented With Discovery of New Gene

The University of Leeds has led an international research study into a gene that can be carried unnoticed by family members leading to blindness in their children if inherited. The hope is that by understanding this gene and detecting it within family members it could lead to prevention of patients developing blindness as treatment can be carried out before the patients begin to lose sight.

The disease in question is called FEVR (Familial Exudative Vitreoretinopathy) and many of its sufferers are registered as visually impaired or blind. The study conducted by the University of Leeds and led by Dr Carmel Toomes has found a particular gene, TSPAN12, that significantly contributes to FEVR. They have also discovered that family members can carry this mutated TSPAN12 gene, therefore early detection of this gene in family members could help prepare doctors for the development of FEVR and treat it before it takes full hold on the sufferer. The TSPAN12 gene causes FEVR as it prevents blood vessel development within the retina by disrupting cell signals.

The study involved an examination of 70 FEVR patients who had previously been tested for three genes that are thought to contribute to the disease, but were found not to possess these genes. However, 10% of these patients were found to carry the TSPAN12 gene. Additionally, this study doesn’t just provide a possible solution for FEVR treatments but could also benefit other diseases such as diabetic retinopathy and age-related macular degeneration. Dr. Toomes does believe that by understanding the blood vessel formation involved in the FEVR disease it could lead to the understanding of other various eye diseases. An extensive report is due to feature in the American Journal of Human Genetics today.

12th February 2010

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