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 ...

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 ...

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, ...

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, ...

Half of all babies diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency die within their first week of life Getty KJ Muldoon was diagnosed with severe carbamoyl phosphate ...

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 ...

CNBC’s Becky Quick recently opened up about her 9-year-old daughter Kaylie’s private battle with a rare genetic disorder. In ...

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 Marbach Schaaf syndrome is ...

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