Milestone reached in major developmental disorders project

The Wellcome Sanger Institute issued a press release on the milestones of the DDD project, which includes the Genomethics study on incidental findings
16th October 2018

Excerpt from press release:

Eight years after launch, the Deciphering Developmental Disorders project has identified 49 completely new disorders and provided diagnoses to 4,500 children with rare diseases

The Deciphering Developmental Disorders (DDD) project aims to provide diagnoses for the families of around 13,600 children with severe undiagnosed developmental disorders. Launched eight years ago this month at the Wellcome Sanger Institute, the project has just completed the first phase of analysing the gene sequences of every participant in the study. The project has provided genetic diagnoses to approximately one third of the families involved so far and now moves into its next phase.

With 125 scientific papers published on the study to date, this project is helping researchers and families understand the genetic causes of the disorders. This helps the family access services and can inform their child’s treatment...

Citation:

Wellcome Sanger Institute Communications Team (2018). Milestone reached in major developmental disorders project [Press release]. 16 October. Available at https://www.sanger.ac.uk/news/view/milestone-reached-major-developmental... [Accessed on: 12 November 2018]