Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

Indiana University School of Medicine scientists have uncovered new evidence that an age-related blood condition may contribute to inflammatory bowel disease (IBD). Their findings suggest that a new ...

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

By Tarun Sai Lomte Scientists reveal how evolution within our own tissues can drive disease, protect cells, and uncover hidden therapeutic targets for future precision medicine. Somatic genomics ...

BRCA1 and BRCA2 gene mutations increase the risk of hereditary breast cancer. Here's what you should know about the causes, ...

Spain has begun using a new genetic ALS therapy that targets the SOD1 mutation and may slow nerve damage in patients with this rare condition.

Houston Methodist scientists have uncovered an unexpected side of a protein best known for its link to brain diseases. The ...

Cancer begins when mutations in specific genes override the body’s built-in controls on cell division, allowing rogue cells ...

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

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an ...