NEW YORK (GenomeWeb) – Genetic disease diagnostics company GeneDx, a subsidiary of Opko's BioReference Laboratories, and the Radboud University Medical Center in the Netherlands are collaborating on research to better understand and manage genetic diseases, Opko Health said today.
Under the terms of the agreement, Gaithersburg, Maryland-based GeneDx and Radboud plan to identify novel genes and pathways to explain the causes and clinical symptoms of genetic diseases and help with their management. The project also aims to improve informatics and statistical methods to diagnose patients with genetic conditions robustly and rapidly.
As part of the collaboration, GeneDx, which has been offering diagnostic exome sequencing for several years, will expand its study cohort of patients with developmental delay or intellectual disability with approximately 3,000 additional cases from Nijmegen-based Radboud, which has also been conducting diagnostic exome sequencing, creating what it says is the largest combined dataset of neurodevelopmental exomes for genetic analysis and discovery.
"The shared combination of our data summaries and analytical tools to conduct meta-analyses of GeneDx and Radboud datasets will help us better understand the genetic basis of neurological health and disease," GeneDx Chief Innovation Officer Kyle Retterer said in a statement.
"With this collaboration we hope to expand our knowledge of neurodevelopmental disorders and provide better diagnoses to our patients," added Christian Gilissen, an associate professor at the Radboud University Medical Center and principal investigator for the collaboration.