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GeneDx in collaboration with Netherlands medical center to study genetic disease treatments


By David Schwartz
Published: January 16th, 2018

GeneDx Inc., a subsidiary of OPKO Health, Inc. BioReference Laboratories, has entered into a research collaboration with the Radboud University Medical Center, Nijmegen, Netherlands. 

Under the agreement, GeneDX and Radboud will work to identify novel genes and pathways to better understand the causes, clinical characteristics, and potential management of human genetic diseases. The research also aims to improve informatics and statistical methods that could allow for rapid diagnosis of patients with genetic conditions.

GeneDx, an industry leader in whole exome sequencing (WES), launched its WES program in 2011.  Over the past five years, work at GeneDx has helped discover or contribute to the phenotypic understanding of dozens of novel disease genes associated with developmental delay or intellectual disability. With this newest research collaboration, the study cohort will expand with approximately 3,000 additional cases* from Radboud, thus creating the largest combined data set of neurodevelopmental exomes for genetic analysis and discovery.

“The opportunity to collaborate with Radboud is yet another exciting advancement for our WES program,” said Kyle Retterer, Chief Innovation Officer of GeneDx and co-principal investigator for the collaboration. “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.”

Radboud’s key strength is the combination of medical life sciences and clinical practice. The medical center has an infrastructure comprised of three research institutes and state of the art technology centers. The center’s scientists perform cross disciplinary research regarding 18 clinically relevant research themes.

“With this collaboration we hope to expand our knowledge of neurodevelopmental disorders and provide better diagnoses to our patients,” said Christian Gilissen, Associate Professor at the Radboud University Medical Center and principal investigator for the collaboration. “We are pleased to work with GeneDX on this project.”

Source: Nasdaq

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