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World-first study shows that WGS shortens diagnostic odyssey

A world-first scientific study has shown that whole-genome sequencing (WGS) improves diagnosis of rare diseases and shortens diagnostic journeys for […]

The State Of: Newborn Sequencing

Newborn sequencing has been a hot topic in the news in recent years. From Guinness World Records to large-scale screening […]

A Spotlight On: Rare Disease – Marshall Summar, Director of the Rare Disease Institute at the Children’s National Hospital

Marshall Summar is Director of the Rare Disease Institute at the Children’s National Hospital. He runs the genetics and metabolism […]

Patient Perspectives: Kay Parkinson, Founder and Company Secretary, Rare Disease Nurse Network

Although Kay Parkinson is officially retired, she volunteers at the Rare Disease Nurse Network where she is the Founder and […]

Whole Genome Sequencing Detects Neurological Disorders

 This post was written by Charlotte Harrison, Freelance Science Writer  Whole genome sequencing detects neurological disorders  Genetic testing using whole […]

The Festival of Genomics and Biodata 2022

Get your funky sunglasses, UV paint and flower headbands ready because we are back! Join us for the Festival of […]

Genome Giants: Stephen F. Kingsmore – President and CEO of Rady Children’s Institute for Genomic Medicine

Stephen F. Kingsmore is the President and CEO of Rady Children’s Institute for Genomic Medicine, where they are pioneering the […]

Patient Perspectives: Daniel Lewi, Founder and CEO, CATS Foundation

Daniel Lewi is the Founder and CEO of the Cure and Action for Tay-Sachs (CATS) Foundation, which supports children and […]

The Treatabalome Project

A special issue of the Journal of Neuromuscular Diseases has been dedicated to the ‘Treatabolome’ – a new online database […]

ARDEnt Assemble: Rare diseases and the impact of the pandemic

The pandemic has changed all our lives. Whether that be the loss of loved ones, employment or social interactions – […]