Mobile Menu

Search Results

Search results for: Rare Diseases

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 […]

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 […]

Patient Perspectives: David Edward Rose – Ultra-Rare Disease Patient Speaker

David Edward Rose works for a rare disease magazine called Rare Revolution Magazine. He is also an ultra-rare disease patient […]

Patient Perspectives: Vaila Morrison – Architect, Mother and Rare Disease Advocate (KAT6A syndrome)

Vaila Morrison is an architect focused on sustainable and inclusive design as well as a mother to a child with […]

Researchers have revealed novel ultra-rare risk genes for autism

Researchers have identified ultra-rare, likely gene-disruptive variants unique to autism families, revealing 28 novel candidate risk genes. The genetics of […]