This year, gene-editing technology was customized to fix mutations in a single patient’s genes for the first time.

Experts at Cincinnati Children's have uncovered striking metabolic differences in people with Fanconi anemia (FA), a rare ...

The first child in history has successfully been treated with a new genetic therapy for an ultra-rare developmental defect ...

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 ...

The parents of a three-year-old boy born with a devastating, life-limiting genetic condition say they are now excited for his ...

Expanded newborn genetic screening can diagnose hundreds of actionable conditions, allowing for earlier treatment.

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

It hides behind symptoms of autism, a silent syndrome, and only a few dozen people in the world are known to have it, but researchers expect the real number of those with ...

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 look into the pain and the hope of treating rare neurological diseases in children; it's a difficult, sometimes ...

An Indiana couple is in a legal battle with the Department of Child Services and a local children's hospital after their kids ...