"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 ...

Thousands of children with severe developmental disorders have benefited from more targeted treatments and support with genetic insights from the large-scale Deciphering Developmental Disorders (DDD) ...

BEEN RELEASED. AND NEW TONIGHT OVER TO ELIZABETHTOWN, WHERE ONE FAMILY IS ISSUING A PERSONAL PLEA FOR HELP AND INVOLVES HER YOUNG SON. MICHAEL FULLER SPOKE TO THAT FAMILY IS HERE NOW TO SHARE A LITTLE ...

You’ve likely heard people mention that they have inherited certain health conditions from their family. These are known as genetic disorders—conditions passed down from parents through DNA. In this ...

At Children's Hospital Colorado, Aurora, Colorado, pediatricians will soon have a new ally in diagnosing and identifying complex neurodevelopmental conditions like ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only ...

A couple with deep ties to the Chicago area is donating $11 million to Lurie Children’s Hospital in hopes of speeding research, treatment and diagnosis for children with rare and genetic disorders.