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 ...

Researchers at Memorial Sloan Kettering Cancer Center (MSK) have made an important discovery about how genetic mutations in ...

A team of researchers at VCU Massey Comprehensive Cancer Center has identified a new pathway through which mutations in the tumor suppressor p53 gene—found very frequently in human tumors—hijack DNA ...

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

IU researchers have linked an age-related blood condition to inflammatory bowel disease (IBD) and identified a potential treatment to reduce the severity of inflammation-driven diseases.

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 ...

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.