February 9, 2015
The Deciphering Developmental Disorders (DDD) project is the first nationwide study established in the UK to identify whether the use of cutting edge genetic technology can lead to an increase in the rates of genetic diagnosis and simultaneously help doctors understand why certain patients are susceptible to developmental disorders. Additionally, the project addresses whether and how genomic findings should be shared with individual research participants – a topic causing international debate due to the underlying ethical implications. Jointly funded by the Health Innovation Challenge Fund and the Wellcome Trust Sanger Institute, and supported by the NHS National Institute for Health Research, this study brought together doctors throughout the UK to collect high-resolution genomic and phenotypic data for children with severe undiagnosed developmental disorders and their parents. The success of this transformative venture has been demonstrated in recent publications in Nature and The Lancet.