Gabrielius Misurenkovas can finally play football with his friends after being diagnosed with a rare genetic condition as a baby ...

NIH cuts stalling progress on rare genetic disorders like SynGap1 Johns Hopkins neuroscientist Richard Huganir is close to finding a potential life-changing treatment for kids with SYNGAP1-related ...

Virginia parents John and Cassie Dibble's son Jacob was born with osteogensis imperfecta, often known as brittle bone disease ...

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 ...

Doctors announced this week that they have treated a newborn baby with a rare genetic disease using the world’s first personalized gene editing therapy. Geoff Bennett discussed the treatment and ...

Bedford has Schwartz-Jampel syndrome. It's a rare genetic disorder with just 150 cases reported across the world, his parents said.

KJ Muldoon, who was born at Children's Hospital of Philadelphia in August, reaches out to doctors after being treated for a rare genetic disorder using CRISPR technology.

FRIDAY, July 18, 2025 (HealthDay News) — A new IVF technique helped eight babies in the U.K. avoid serious inherited diseases, and scientists are calling it a breakthrough. All eight children were ...

MMA is very rare, with an estimated global prevalence of around one in 50,000 to one in 100,000 newborns. Read more at ...

The treatment that will help Catherine Illingworth's 5-year-old son is sitting in "the research valley of death," $6 million out of reach.

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, ...

When an Amish patient arrived at the Children’s Hospital of Philadelphia with fatigue, a severe headache, and weakness on one side of her body, doctors scrambled to find a cause. All they could see ...