Researchers have identified ultra-rare, likely gene-disruptive variants unique to autism families, revealing 28 novel candidate risk genes. The genetics of […]
In Europe, a rare disease is defined rare when it affects fewer than 1 in 2,000 people. However, this definition […]
Researchers at the Garvan Institute of Medical Research have found three patients with a severe genetic immunodeficiency disorder that have […]
A recent study has reported on three classes of mutations within the gene SATB1 which result in three variations of […]
According to research funded by Cancer Research UK and others, ultraviolet radiation (UVR) has been found to cause a rare […]
1 in 17 people will develop a rare disease at some point in their lives. RAREfest20 is a global, virtual […]
Researchers have developed a novel statistical test to interpret the pathogenicity of rare variants and accurately distinguish between benign and […]
In the latest episode of the Genetics Society’s ‘Genetics Unzipped’ podcast, Geneticist Dr Kat Arney takes a look at the […]
Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]
Jo Balfour, one of the founding members and current Operations Manager at Cambridge Rare Disease Network (CRDN), has collaborated with […]
