What is the DDD study? 

The Deciphering Developmental Disorders (DDD) study aims to find out if using new genetic technologies can help doctors understand why patients get developmental disorders.

To do this we have brought together doctors in the 24 Regional Genetics Services, throughout the UK and Republic of Ireland, with scientists at the Wellcome Sanger Institute, a charitably funded research institute which played a world-leading role in sequencing (reading) the human genome. The DDD study involves experts in clinical, molecular and statistical genetics, as well as ethics and social science. It has a Scientific Advisory Board consisting of scientists, doctors, a lawyer and patient representative, and has received National ethical approval in the UK.

The DDD study is jointly funded by the Health Innovation Challenge Fund – a parallel funding partnership between Wellcome and the UK Department of Health – and the Wellcome Sanger Institute, and is supported by the NHS National Institute for Health Research.

Dr Helen Firth, Consultant Clinical Geneticist at Addenbrooke's Hospital, Cambridge, says:

“Deciphering Development Disorders offers a win-win to patients, clinicians and scientists alike. It could significantly improve our understanding and management of these rare conditions and provide new avenues of research into treatments for scientists to pursue.”

We have spent four years collecting DNA and clinical information from over 12,000 undiagnosed children and adults in the UK with developmental disorders and their parents. The DDD team is absolutely committed to analysing and re-analysing all the genomic data from families in the study over the coming years to try to find a diagnosis for as many children as possible. Recruitment of new patients into DDD ended on April 3rd 2015, but the DDD team is working closely with the NHS and Genomics England to ensure that this type of genetic testing is continued for families with developmental disorders in the future.