During the Boston Globe’s Rare Disease Summit, Dr. Wendy Chung, a physician-scientist and geneticist who leads the Department ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health traits. By probing regions of DNA previously linked to disease, the work has ...

Psychiatric disorders can share common genetic influences, which means parts of DNA can be at the root of more than one mental condition, new research has found. The study, led by researchers at Texas ...

The Food and Drug Administration is making it possible for pharmaceutical companies to produce bespoke medicines for individual patients, an effort to revolutionize the standard of care for rare ...

Despite widespread misconceptions, eating disorders aren’t a choice, they’re serious, potentially life-threatening conditions. While social and environmental factors do influence someone’s risk of ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases. Instead of starting with a disease and hunting for a cure, they began with ...

Researchers have found that a new base-editing gene therapy can help treat a rare neurodevelopmental disorder called Snijders ...