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

"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, ...

At an event on Monday, the agency officially unveiled long-awaited draft guidance meant to help speed the development of bespoke treatments for extremely rare diseases.

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

Calvin's diagnosis came after nearly two years of various testing Kate Todd Photography Klairissa and Mike welcomed their first baby after some pregnancy complications, but were excited to bring their ...

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 ...

A Florida state legislator sponsored the nation's first state-backed genetic screening program after his son died from a rare genetic disease.