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.

"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 ...

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

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, ...

BRCA1 and BRCA2 gene mutations increase the risk of hereditary breast cancer. Here's what you should know about the causes, ...

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 ...

Engineers at the University of Pennsylvania and Rice University have refined a technology for editing individual genetic ...

A new study suggests a gene mutation could have a protective effect against Alzheimer's. The research looked specifically at blood stem cells, which live in the bone marrow and make different types of ...

This Ice Age pair of hunter-gatherers were both shorter than average for their population – one of them markedly so – and now we finally know why. A team of researchers from Europe re-examined the ...

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, ...

A study led by biomedical scientists at the University of California, Riverside School of Medicine shows how a genetic mutation associated with Crohn's disease can worsen iron deficiency and anemia - ...