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 ...

About 40% of East Asians suffer from alcohol intolerance, known as "Asian Flush Syndrome," caused by an ALDH2 genetic ...

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 ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

Koala populations with low genetic diversity are actually recovering by "reshuffling" their genes to remove harmful mutations ...

That's because Reggie is a dapper, mustachioed man! His long, luscious mustache hangs from his lip like a golden curtain, and ...

A clustered family history of breast, ovarian, and colon cancers appropriately triggered germline testing, with BRCA1 mutation status informing individualized risk stratification and counseling.

Dwarfism is a genetic mutation that affects all sorts of animal species. Read here to learn about Francis, the cat with ...

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 ...

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.

Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms. Researchers in ...