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Genomics study uses UK Biobank Data to reveal new genetic associations for rare diseases

Written by Skel Yeung Rare diseases affect up to 10% of the global population. Yet the majority of rare diseases […]

Applying RNA-sequencing Technology to Cancer and Rare Diseases

Written by Vered Smith, Science Writer  A paper in Molecular Biology Reports has recently reviewed the latest RNA sequencing technologies, […]

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

Dr Michelle Krishnan is the Translational Medicine Leading in Rare Diseases at Roche where she focuses on developing transformative therapies […]

Non-canonical Variants: The Dark Horse of Rare Genetic Diseases

Written by Isobel Young, Science Writer By the end of 2018, Genomics England had completed their 100,000 Genome Project (100KGP), […]

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 […]