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“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 […]

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 […]

Novel statistical test for interpreting pathogenicity of rare variants

Researchers have developed a novel statistical test to interpret the pathogenicity of rare variants and accurately distinguish between benign and […]

Rare, Well Done: Progress and challenges in rare genetic disorders

In the latest episode of the Genetics Society’s ‘Genetics Unzipped’ podcast, Geneticist Dr Kat Arney takes a look at the […]

Underdiagnosis of monogenic heart and vascular diseases

Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]

An impact study on the rare disease community: a call to action

Jo Balfour, one of the founding members and current Operations Manager at Cambridge Rare Disease Network (CRDN), has collaborated with […]

A major cause of rare mitochondrial disease found

A study from the Murdoch Children’s Research Institute (MCRI) has found a genetic cause for a rare disease that causes […]

MicroRNAs: The cast-off genetic material with the potential to fight diseases

This is a summary of an article written by Alice Godden originally published on TheConversation. Of the nearly 3 billion […]

The impact of COVID-19 on the rare disease community

For the last few weeks, we have been covering COVID-related stories, from the sequencing of the virus, the research efforts, […]