OPKO Health has announced that its subsidiary and business unit, GeneDx, is entering into a collaboration with the Deciphering Developmental Disorder (DDD) study led by the Wellcome Trust Sanger Institute. The Wellcome Trust Sanger Institute is a non-profit research institute that played a central role in the human genome project. The DDD study aims to determine the clinical utility of leveraging advanced genomic technologies to diagnose patients with developmental disorders. This will be accomplished in two ways: (i) identifying novel genes and pathways for human genetic diseases and characterizing the associated phenotypes, and (ii) improving informatics and statistical methods to robustly diagnose patients with genetic conditions.
Through the DDD study, scientists at the Wellcome Trust Sanger Institute have worked alongside doctors from 24 Regional Genetics Services throughout the UK and Republic of Ireland over the past 4 years to analyze DNA from 13,500 patients with developmental disorders along with their biological parents. Through this research, so far, the DDD study has led to the discovery of 30 novel genes associated with developmental disorders.
GeneDx, an industry leader in whole exome sequencing (WES), launched its WES program in 2011, and over the past 5 years has discovered or contributed to the phenotypic understanding of over 25 genes associated with developmental delay and/or intellectual disability. With GeneDx’s collaboration, the joint study cohort will expand by over 12,000 cases presenting with developmental delay or intellectual disability. “We are thrilled to have the opportunity to collaborate with the Wellcome Trust Sanger Institute’s DDD study,” said Kyle Retterer, MS, Director of Data Science, GeneDx. “We expect that the combination of our cohorts and our analytical tools will help improve the ability to find statistically significant enrichment of previously undescribed disease genes, thus aiding in the diagnosis of patients from both cohorts and in the general understanding of Mendelian neurodevelopmental disorders.”
Matthew Hurles, PhD, Chief Investigator of the DDD study, adds, “Pooling data globally is critical for identifying rare and ultra-rare genetic disorders. 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.”