Danielle Carnival has a new moonshot project. Carnival, who led then-President Joe Biden ’s cancer moonshot initiative, is now CEO of the Undiagnosed Diseases Network Foundation, a nonprofit that ...

Since the 1960s, Texas has screened newborns for a variety of rare diseases — like sickle cell anemia and cystic fibrosis.

Klairissa and Mike's baby boy was born after a tough pregnancy and continued to experience struggles including low energy and ...

Researchers have achieved the first demonstration in mice of using gene therapy to reverse hallmark symptoms of SYNGAP1-related disorder, a devastating condition affecting an estimated 1 million ...

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

Billie Frankcombe, 11 months old, was born a "healthy" baby, hitting all her milestones, but parents Hannah and Ben grew ...

When you stop to think about it, the human body is pretty amazing. It knows how to heal when we’re hurt, protect us from ...

A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying ...

A look at the rare, unforgettable stars whose silent devotion and tragic heroism secured a permanent place in cinematic ...

When Brent Chapman was 13, he took ibuprofen during a Christmas basketball game. It was a drug he had taken before, but what happened next was anything but routine: He had a severe reaction that ...

The new study adds to a mountain of evidence that autism is genetic, with up to 80 percent of cases linked to inherited gene ...

Gypsy-Rose Blanchard shared a rare snap on Thursday, Sept. 18, of her boyfriend Ken Urker and their daughter Aurora, calling ...