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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 […]

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 […]

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 […]