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, ...

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 ...

Scientists from UC Davis Center for Surgical Bioengineering, the MIND Institute and UC Berkeley’s Murthy Lab are developing ...

After losing his son to a rare genetic disease, state Rep. Adam Anderson vowed to make it easier for other families to find answers. That promise became reality with the passage of House Bill 907, the ...

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 ...

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 ...