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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 […]

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 […]

The rarest of the rare

In Europe, a rare disease is defined rare when it affects fewer than 1 in 2,000 people. However, this definition […]

Random DNA change reverses rare immunodeficiency

Researchers at the Garvan Institute of Medical Research have found three patients with a severe genetic immunodeficiency disorder that have […]

Rare neurodevelopmental disorder associated with SATB1 dysfunction

A recent study has reported on three classes of mutations within the gene SATB1 which result in three variations of […]

UVR causes rare type of eye cancer

According to research funded by Cancer Research UK and others, ultraviolet radiation (UVR) has been found to cause a rare […]