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GeneDx Partners With Wellcome Trust on Developmental Delay Study

NEW YORK (GenomeWeb) – Opko Health subsidiary GeneDx said today that it has partnered with the Wellcome Trust Sanger Institute on the Deciphering Developmental Disorders (DDD) study and will contribute patient data and analytical tools to the effort.

Launched in 2011 by the Wellcome Trust and the UK's National Health Service, the DDD study aims to use exome sequencing to uncover the genetics behind developmental disorders and, ultimately, improve patient diagnosis. Thus far, the study has analyzed the DNA of roughly 13,500 patients with developmental disorders and their parents, uncovering a number of novel genes associated with such conditions including 14 reported earlier this year.

GeneDx said that it has generated data on more than 25 genes associated with developmental delay and/or intellectual disability since launching its own whole-exome sequencing program in 2011. In collaborating with the Wellcome Trust, the company will expand the DDD study's cohort by more than 12,000 patients and provide access to analytical tools to help identify statistically significant enrichment of previously undescribed disease genes.

GeneDx noted that it will not provide patient-level data and will obtain patient consent related to research resulting in publication.

"Pooling data globally is critical for identifying rare and ultra-rare genetic disorders," Matthew Hurles, chief investigator of the DDD study, said in a statement. "We are delighted to be collaborating with GeneDx and look forward to being able to increase substantially the proportion of patients we can diagnose confidently with known genetic disorders through combining data from over 20,000 families."