Genetics

The Week in Genomics

By Rhonda Reinhart

Jonathan Bailey, NHGRI

Single gene may explain group of heart disease risk factors known as metabolic syndrome: According to a study in the May 15 issue of the New England Journal of Medicine, a rare mutation in the DYRK1B gene can contribute to heart disease risk factors such as obesity, diabetes, high blood pressure, and high cholesterol. In the three families studied, members with the mutation were more likely to have issues with obesity, diabetes, and early heart disease. Though the mutation is rare, for the small percentage of people affected, there is good news: “It may be possible to develop a drug that knocks down the function of this gene,” says Ali Keramati of the Yale University School of Medicine.

Biotech giant, small foundation join forces to fight rare eye disease: With funding from the Jack McGovern Coats Disease Foundation, biotech company Genentech will trace the genetics behind a blinding eye disorder called Coats disease. By studying blood samples from Coats disease patients and their families, Genentech scientists hope to find a treatment for the rare disease. (For a more in-depth look at how nonprofit foundations and pharmaceutical companies can work together to develop targeted disease treatments, check out “The Rise of Pharma-lanthropy” in the latest issue of Genome.)

The National Institutes of Health says more female animals needed in lab studies: Like humans, depending on their gender, mice and other lab animals respond differently to drugs and disease. But researchers tend to ignore that fact when planning their lab studies, often favoring male animals just for the sake of convention. Now the NIH says no more. The agency is issuing new guidelines to ensure that research on animals accounts for potential differences between the sexes. The new policies will start going into effect this fall.