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 […]
David Edward Rose works for a rare disease magazine called Rare Revolution Magazine. He is also an ultra-rare disease patient […]
Vaila Morrison is an architect focused on sustainable and inclusive design as well as a mother to a child with […]
Researchers have identified ultra-rare, likely gene-disruptive variants unique to autism families, revealing 28 novel candidate risk genes. The genetics of […]
