A world-first scientific study has shown that whole-genome sequencing (WGS) improves diagnosis of rare diseases and shortens diagnostic journeys for […]
Marshall Summar is Director of the Rare Disease Institute at the Children’s National Hospital. He runs the genetics and metabolism […]
Although Kay Parkinson is officially retired, she volunteers at the Rare Disease Nurse Network where she is the Founder and […]
This post was written by Charlotte Harrison, Freelance Science Writer Whole genome sequencing detects neurological disorders Genetic testing using whole […]
Get your funky sunglasses, UV paint and flower headbands ready because we are back! Join us for the Festival of […]
Stephen F. Kingsmore is the President and CEO of Rady Children’s Institute for Genomic Medicine, where they are pioneering the […]
Daniel Lewi is the Founder and CEO of the Cure and Action for Tay-Sachs (CATS) Foundation, which supports children and […]
A special issue of the Journal of Neuromuscular Diseases has been dedicated to the ‘Treatabolome’ – a new online database […]
The pandemic has changed all our lives. Whether that be the loss of loved ones, employment or social interactions – […]
For a second year running, the annual ‘Frontiers in Pediatric Genomic Medicine’ conference has gone virtual – bringing together the […]
