Since its launch in 2022, the programme has reduced the time to diagnosis from a global average of 7.6 years to just weeks.

Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.

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

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 addition of PacBio to the iHope network will further expand diagnostic access worldwide DAMASCUS, MD, UNITED ...

"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 ...

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

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health ...

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

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 ...

New research uncovers how cannabis addiction, not casual use, is genetically tied to severe mental health conditions, raising red flags for policy, treatment, and prevention. Study: The genetic ...