Researchers from Radboud University Medical Center and University of Basel have discovered new genetic causes of inherited ...

Gene editing has moved from theory to bedside with a speed that would have seemed impossible a decade ago. A new wave of CRISPR advances is not only correcting single mutations in the lab but ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...

An analysis of genetic data from over 900,000 people shows that certain stretches of DNA, made up of short sequences repeated ...

For decades, diagnosing a mental illness has depended largely on symptoms and clinical observation rather than lab tests. Yet ...

Scientists discovered that aging DNA repeats expand at wildly different speeds—and in some people, the consequences can be devastating. A sweeping genetic study drawing on data from more than 900,000 ...

Refsum disease is a rare genetic disorder involving the buildup of a type of fat in your blood and tissues called phytanic acid. This buildup can cause vision loss, hearing loss, and weakness and ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...