The first time the seemingly healthy woman gave birth, she went into heart failure. She recovered and went on to deliver her ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

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

Most of the rare diseases are inherited—passed down from parents to their children. Generally referred to as orphan diseases, each of the almost 7,000 of them is due to the same issue—a mutation in a ...

A rare cause of hereditary cognitive decline known as CSF1R-Related Disorder (CSF1R-RD) gets its name from mutations in the ...

"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 ...