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Fixing DNA disorganisation to treat rare diseases

Researchers have revealed the usefulness of a structural protein in potentially diagnosing and treating a variety of genetic disorders linked […]

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 – […]

Genomic Sequencing to Explain New Rare Diseases

Determining the genetic basis of rare diseases is important for counselling and for developing our understanding of disease pathogenesis. While […]

UK launches new rare diseases strategy

The UK has launched a new framework which aims to raise awareness of rare diseases, speed up diagnosis and improve […]

“Usually, you’re relatively alone in your rare disease community” – Interview with Shelley Simmonds, Patient Advocate for rare diseases

Shelley Simmonds is a patient advocate whose son has Duchenne muscular dystrophy. Duchenne causes muscle weakening and wasting and is […]

Interview with Dr Michelle Krishnan, Translational Medicine Leader in Rare Diseases, Roche

FLG: Can you introduce yourself and your work at Roche? I am a Translational Medicine Leader in the Rare Diseases […]

AI has been used to rapidly diagnose critically ill patients with rare genetic diseases

Recently, researchers used Fabric GEM, an artificial intelligence algorithm, to detect disease causing variants in newborns and rare disease patients […]

WES uncovers mutations for rare paediatric diseases

Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases. Rare genetic paediatric diseases […]

Providing Information And Support to Families Affected by Rare Genetic Diseases – Interview with Arti Patel, Unique

Arti Patel is an Information Officer at Unique, where she acts as the first point of contact on the helpline […]

Rare variants involved in eczema susceptibility

A recent meta-analysis has identified rare exonic variants that play a role in eczema susceptibility. Eczema Eczema is a chronic […]