TUESDAY, March 5, 2013 — An ordinary patient visit recently led Swiss researchers to an extraordinary discovery: a single genetic mutation that causes type 1 diabetes, as reported today in the journal Cell Metabolism. The scientists are now exploring ways to translate their findings into clinical research, including a possible trial with drugs that activate the gene pathway, in the hopes of identifying new type 1 diabetes treatments.
“This is the first time that a single gene was found that directly leads to type 1 diabetes,” says Marc Donath, MD, the study’s senior author and an endocrinologist at University Hospital Basel in Switzerland. “This gene was quite well-known from animal studies and was not expected to lead to this kind of disease.”