Written by Skel Yeung Rare diseases affect up to 10% of the global population. Yet the majority of rare diseases […]
Written by Vered Smith, Science Writer A paper in Molecular Biology Reports has recently reviewed the latest RNA sequencing technologies, […]
Researchers have revealed the usefulness of a structural protein in potentially diagnosing and treating a variety of genetic disorders linked […]
The pandemic has changed all our lives. Whether that be the loss of loved ones, employment or social interactions – […]
Determining the genetic basis of rare diseases is important for counselling and for developing our understanding of disease pathogenesis. While […]
The UK has launched a new framework which aims to raise awareness of rare diseases, speed up diagnosis and improve […]
Shelley Simmonds is a patient advocate whose son has Duchenne muscular dystrophy. Duchenne causes muscle weakening and wasting and is […]
Dr Michelle Krishnan is the Translational Medicine Leading in Rare Diseases at Roche where she focuses on developing transformative therapies […]
Written by Isobel Young, Science Writer By the end of 2018, Genomics England had completed their 100,000 Genome Project (100KGP), […]
Recently, researchers used Fabric GEM, an artificial intelligence algorithm, to detect disease causing variants in newborns and rare disease patients […]
