expert reaction to identification of most common recessive neurodevelopmental disorder

Three studies published in Nature Genetics look at the identification of a common recessive neurodevelopmental disorder (NDD). Cornelius Gross, Head of EMBL, Rome, said: “This study is a significant advance in understanding neurodevelopment disorders because it identifies a set of surprisingly common recessive disease mutations in the dark genome – the 98% of our genome that is non-coding. Tracking down such mutations has been much harder than finding disease mutations in coding genes and the...