Reviewed by Emily Henderson, B.SC.
Researchers at Tel Aviv University identified a new genetic risk factor for the complex eye disease AMD (Age-related Macular Degeneration), a leading cause for loss of eyesight at an advanced age. For the first time, the researchers identified proteins that play a key role in the development and functioning of the tissue affected by the disease, found their exact sites in the genome, and discovered the connection between variations in these genomic regions and the risk for AMD. The researchers: “The new discovery enhances our understanding of the previously unknown function of genomic regions outside the genes. The method we applied may enable the deciphering of additional genetic mechanisms involved in various complex genetic diseases.”
The study was led by Prof. Ruth Ashery-Padan and Prof. Ran Elkon and their research teams, Mazal Cohen Gulkar, Naama Mesika, Ahuvit David, and May Eshel, from the Department of Human Molecular Genetics and Biochemistry at the Sackler Faculty of Medicine and the Sagol School of Neuroscience at Tel Aviv University. The paper was published in PLOS Biology.
“One of the greater challenges in genetic research today is decoding the genetic mechanisms of complex diseases caused by a combination of several different genetic and environmental factors (rather than an identifiable defect in a single gene). Diabetes, bowel diseases, and various mental illnesses are just a few examples. In our study, we chose to focus on AMD, which causes degeneration of the central retina – a major cause of loss of vision at an advanced age in developed countries.”
Prof. Ruth Ashery-Padan, Tel Aviv University
Source: News Medical Life Sciences