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 ...

The U.S. Food and Drug Administration on Tuesday approved leucovorin, a synthetic form of vitamin B9, as a treatment for a rare genetic condition that causes folate deficiencies in the brain. The ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...

Genes are short sections of DNA that determine an animal’s traits—everything from coat color and claw strength to body shape and health. But sometimes, these genes mutate. And while the word itself ...

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

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 ...

The 7-month-old black kitten has a rare genetic mutation causing a curled tail and underbite, and he’s ready for adoption after surgery ...

A new study by UCLA scientists adds to the understanding of the genetic architecture of schizophrenia. Past research has shown the impact of commonly occurring genetic variants on a person's risk of ...

Every new discovery in genetics brings scientists one step closer to understanding complex conditions and improving the lives of those affected. Learn how MIRAGE syndrome was discovered in 2016 ...

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.

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...