"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

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

In a landmark discovery, researchers from the University of Antioquia have identified a new genetic syndrome that bridges the gap between neurodevelopmental disorders and neurodegenerative diseases.

Kidney cancer is not exclusively a disease of older patients. For many young adults, the diagnosis comes as a shock, often appearing without warning in those who otherwise feel healthy.

The exact cause of personality disorders is unclear. However, genetics, neurological differences, and environmental factors may contribute to the development of these complex mental health conditions.

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 ...

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

Sidra Medicine, a member of Qatar Foundation, has highlighted the real-world impact of precision medicine on a six-year-old patient with a rare genetic condition. Marking Rare Disease Day observed ...

EADaily, March 2nd, 2026. Tomsk geneticists summed up the results of a large-scale three-year study covering the Siberian ...