"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

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

Scientists have found that a special component in some people's blood provides them with natural protection against malaria.

Did you know that most of the 7,000 to 10,000 rare diseases affect children? With 80% of rare diseases having a genetic cause, getting a head start on genetic testing for infants can be the key to an ...

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 ...

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 ...