Researchers from the University of Melbourne and Murdoch Children's Research Institute (MCRI) have developed a blood test ...

Hopkins neuroscientist Richard Huganir is close to finding a potential life-changing treatment for kids with SYNGAP1-related ...

Explore 5 rare genetic and neurological disorders named after pioneering women in medicine, highlighting their significant ...

He’s among the first to be successfully treated with a custom therapy that seeks to fix a tiny but critical error in his ...

An infant named KJ has made history as the first patient to be treated with an in vivo CRISPR gene editing therapy designed ...

Researchers have developed a new blood test capable of rapidly diagnosing rare genetic diseases in babies and children.

Lafora disease is a rare, fatal genetic disorder affecting the brain, with limited treatment options and severe symptoms.

Though it may be a while before similar personalized treatments are available for others, doctors hope the technology can ...

PHILADELPHIA — A baby born with a rare and dangerous genetic disease is growing and thriving ... are going to be crossed in the next five to 10 years. Then the whole field will move as a block ...