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 5-year-old boy who was born with a rare genetic condition is now able to walk by himself, his mother has said, after ...
Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...
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 ...
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 ...
The first infant to undergo gene-editing therapy has accomplished another first — his first steps. KJ Muldoon is walking and getting ready to spend Christmas at home after being hospitalized last ...
A rare form of diabetes is emerging in the very first weeks of life, reshaping how doctors think about blood sugar disorders ...
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, ...
Kerala doctors successfully performed a life-saving liver transplant on a two-and-a-half-year-old child diagnosed with the ...
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, ...
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 ...
Tiffany Fransen, diagnosed with Friedreich's ataxia, faces challenges from this rare disease. The genetic disorder affects ...