Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a major nationwide study which will help improve diagnosis across the world. 

More than 13,500 families from 24 regional genetics services across the UK and Ireland were recruited to the Deciphering Developmental Disorders (DDD) study*, a collaboration between the NHS and the Wellcome Sanger Institute.

All the families had children with a severe developmental disorder, which was undiagnosed despite prior testing through their national health service and likely to be caused by a single genetic change. The Wellcome Sanger Institute sequenced all the genes in the children’s and parents’ genomes to look for answers, a search which is still ongoing.

“Embedding a powerful informatics platform at the heart of this study facilitated the collaboration with families, clinicians and scientists engaged in the project, and played a crucial role in its diagnostic success and in the discovery and ultimately treatment of new causes of rare genomic disease. The Deciphering Developmental Disorders study has resulted in more than 290 publications and identified approximately 60 new disorders.”

Helen Firth, Professor of Clinical Genomics at the University of Cambridge, lead clinician for the study and senior co-author of the study

Senior co-author Michael Parker, Professor of Bioethics at the Ethox Centre at Oxford Population Health, University of Oxford, and ethics lead for the study, highlighted the key role played in the success of the Deciphering Developmental Disorders Study of an integrated programme of bioethics.

To read the full article, please visit: https://www.sanger.ac.uk/news_item/5500-people-diagnosed-with-rare-genetic-diseases-in-major-research-study/