Deciphering Developmental Disorders - Overview

The Deciphering Developmental Disorders (DDD) Study has recruited nearly 14,000 children with severe undiagnosed developmental disorders, and their parents from around the UK and Ireland. The patients have been deeply phenotyped by their referring clinician via DECIPHER using the Human Phenotype Ontology.

Samples have been collected at the Wellcome Sanger Institute, where we are applying high resolution exon-arrayCGH and trio exome sequencing to investigate the genetic causes of abnormal development. Likely diagnostic results are being reported to clinical teams, for validation and communication with families, and will all be made publicly available via DECIPHER.

We hope that the findings from DDD will help design more efficient and cheaper diagnostic assays for relevant genetic testing to be offered to all such patients in the UK and so transform clinical practice for children with abnormal development.

Publications using DDD data should include the following acknowledgement:

The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003], a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute [grant number WT098051]. The views expressed in this publication are those of the author(s) and not necessarily those of Wellcome or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.

For further information and project updates, see: