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 ...

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 ...

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

Researchers at VIB and Antwerp University have identified a major genetic risk factor for a rare form of frontotemporal dementia. The discovery, published today in Nature Genetics, provides a ...

Researchers have identified specific genes containing rare mutations that significantly increase the likelihood of developing attention deficit hyperactivity disorder. These findings, published in the ...

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 ...

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 ...

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 ...

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 ...