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RAREfest20

1 in 17 people will develop a rare disease at some point in their lives. RAREfest20 is a global, virtual […]

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, […]

Patient Perspectives – Daisy Ireland, Charcot-Marie Tooth Patient

Daisy Ireland is a Content and Event Producer at Front Line Genomics. Ireland not only has a background in Molecular […]

World of Genomics: France

Home to some of the greatest landmarks, gourmet food and wine, the backdrop to several incredible musicals, and of course, […]