U.S. Health Secretary Robert F. Kennedy Jr. on Tuesday added two rare genetic disorders, Duchenne Muscular Dystrophy and ...

"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 ...

A single, untargeted proteomics test for rare genetic diseases has been developed. A research team from the University of Melbourne (Australia) and Murdoch Children’s Research Institute (Victoria, ...

DANVILLE, Pa. – A “genomic-first” approach to screening for rare genetic disorders —identifying specific genetic variants and then studying associated traits and symptoms — can identify these ...

Rare genetic disorders affect more than 300 million people worldwide, with children making up 70% of those impacted, according to EURORDIS. These conditions often go undiagnosed for years due to ...

In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children's Research Institute (MCRI) have developed a groundbreaking rapid blood test that can ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days. A groundbreaking blood test promises to transform ...

Rare genetic diseases are challenging for patients and their families—made all the more overwhelming because symptoms tend to appear soon after birth. To date, there haven’t been many reliable ...

KJ Muldoon wasn’t supposed to make it to his first birthday. He was born in August 2024 with carbamoyl phosphate synthetase 1 deficiency, a genetic disorder that afflicts about 1 in 1.3 million ...