Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...

We are seeking a highly motivated Postdoctoral Research Associate in Computational Genomics to join our team at the University of Edinburgh. This is a unique opportunity to work on a cutting-edge proj...

Rare genetic disorders collectively impact over 300 million people worldwide, yet around 95% have no specific treatments. For the many rare disorders caused by haploinsufficiency, effective therapies ...

Population-scale whole-genome sequencing data will contain many individual-level genotype errors, even after allele-level quality control (QC). We establish the need for genotype-level QC using UK Bio...

James Coney and his wife, Sarah, struggled not knowing why their 12-year-old was born with a severe learning disability. In their darkest moments, they blamed themselves. Then, out of the blue, came a...

Personalised prevention aims to tailor preventative health strategies to individual characteristics, for example, genetic, lifestyle or environmental factors. The aim is to prevent or delay the onset…

MRC is launching its first two Centres of Research Excellence, which will develop transformative new advanced therapeutics for currently untreatable diseases.

Alt: a couple of cartoon characters standing next to each other with one wearing a purple earring