The following is an edited excerpt.
By analyzing the genes of children with undiagnosed developmental disorders and those of their parents, researchers hope to identify the causes of hundreds of rare “syndromes without a name”. The study, being led by researchers at the Wellcome Trust Sanger Institute near Cambridge, began in October 2010 and will eventually include 12,000 families making it by far the largest project of its kind ever conducted.
Dr Matthew Hurles, who is leading the project, said: “This study will fundamentally change our understanding of how genetics causes these severe developmental disorders.
Read the full article here: Gene screening to ‘fundamentally change’ understanding of childhood disorders