In a major step toward treating rare neurological diseases, scientists have used gene editing to correct mutations inside the ...

Researchers have discovered the first genetic mutation associated with hypertrophic cardiomyopathy (HCM) and sudden death in ...

GeneDx CEO Katherine Stueland explains how her company screens babies’ DNA for mutations that cause thousands of treatable disorders.

A groundbreaking study published in this week’s issue of PNAS by scientists from Israel and Ghana shows that an evolutionarily significant mutation in the human APOL1 gene arises not randomly but more ...

Researchers have identified the mechanism by which a common genetic mutation increases liver disease risk. Their findings ...

ASTANA – High school textbooks may frame evolution as a thing of the past, but it is very much alive, said Dr. Arkhat ...

Cris Collinsworth made everyone watching "Sunday Night Football" cringe on Sunday evening. The former Cincinnati Bengals wide receiver, who has been calling NBC's Game of the Week since 2009, is known ...

NIH accelerating UConn Health cardiologist Dr. Travis Hinson's treatment for heart failure genetic mutation from lab toward ...

Scientists have discovered how mutations in a specific gene drive the rare developmental disorder Weaver syndrome, which is marked by intellectual disability and overgrowth and predisposes people with ...

Discover how in some communities around the world, the prevalence of rare diseases is higher due to factors like cousin ...

A groundbreaking study published in this week's issue of PNAS by scientists from Israel and Ghana shows that an evolutionarily significant mutation in ...

Scientists at the Baylor College of Medicine say they have developed an artificial intelligence (AI) model that reveals how protein modifications link genetic mutations to disease. The method, called ...