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 […]
FLG: Can you introduce yourself and your work at Roche? I am a Translational Medicine Leader in the Rare Diseases […]
Recently, researchers used Fabric GEM, an artificial intelligence algorithm, to detect disease causing variants in newborns and rare disease patients […]
Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases. Rare genetic paediatric diseases […]
Arti Patel is an Information Officer at Unique, where she acts as the first point of contact on the helpline […]
A recent meta-analysis has identified rare exonic variants that play a role in eczema susceptibility. Eczema Eczema is a chronic […]
