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

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 ...

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 ...

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

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

Wounded and elderly patients are being evacuated by train from embattled east Ukraine - Copyright AFP Ishara S. KODIKARA Wounded and elderly patients are being ...

Among the forms of monogenic macular degeneration, the most common is Stargardt disease. This disease is caused by mutations in the ATP-binding cassette transporter alpha 4 subunit (ABCA4) gene, ...

Add Yahoo as a preferred source to see more of our stories on Google. This photo provided by Emily’s Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare ...

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.

Santhosh Girirajan receives funding from the National Institutes of Health. Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...