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 […]
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 […]
In Europe, a rare disease is defined rare when it affects fewer than 1 in 2,000 people. However, this definition […]
Researchers at the Garvan Institute of Medical Research have found three patients with a severe genetic immunodeficiency disorder that have […]
A recent study has reported on three classes of mutations within the gene SATB1 which result in three variations of […]
