Audrey Tyrell, 13, was diagnosed with a rare genetic disorder called Usher syndrome at age 10. The teen has created a bucket ...

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 ...

An $11 million gift was given in the fight against rare genetic diseases. Lurie Children's Hospital in Chicago's Streeterville neighborhood is celebrating a donation that will help provide faster, ...

A 5-year-old boy who was born with a rare genetic condition is now able to walk by himself, his mother has said, after ...

The boy was born with the rare disease that would gradually take away his cognitive and motor function without treatment.

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

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. The findings raise the possibility that similar ...

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 its ...

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, ...

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 ...

Olivia Burtwistle is a 12-year-old girl in search of a cure for Batten disease. — -- Olivia Burtwistle grew as a typically curious and energetic child until soon after her fourth birthday, when ...