Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical ...

Scientists have demonstrated for the first time how Staphylococcus aureus—a leading cause of skin infections—reshapes the ...

Growth charts for children with rare genetic disorders—giving health care professionals and families clearer guidance on how a child is developing—have been created by an international team, led by ...

"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 ...

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 ...

Vgenomics offers RgenX, an AI-powered cloud platform that diagnoses rare genetic diseases and accelerates drug discovery by ...

For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation. The baby ...

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, ...

A Rhinelander family is navigating treatment, and learning what their sons future looks like, after his Cystic Fibrosis ...

“How I Met Your Mother” co-creator Craig Thomas talks with “Enable: The Disability Podcast” about his son, who was born with ...

Delays in implementing India's National Fund for Rare Diseases jeopardize lives, emphasizing urgent need for government action and judicial compliance.

PORTLAND, Ore. (KOIN) — A 5-year-old boy with a rare genetic disorder got an out-of-this world experience when characters from a galaxy far, far away gave him a proper Star Wars day sendoff at ...