OPKO’s GeneDx and Radboud Collaborate to Identify Novel Genes and Pathways to Understand Genetic Diseases

MIAMI, Jan. 12, 2018 (GLOBE NEWSWIRE) — OPKO Health, Inc. (NASDAQ:OPK), announces today that GeneDx, Inc., a subsidiary of OPKO’s BioReference Laboratories, has entered into a research collaboration with the Radboud University Medical Center, Nijmegen, Netherlands. Through the agreement, GeneDX and Radboud aim to identify novel genes and pathways to help understand the causes, clinical characteristics, and eventual management of human genetic diseases. Additionally, the project will improve informatics and statistical methods to robustly and rapidly diagnose 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.”

To learn more about Radboud University Medical Center research please visit its website at www.radboudumc.nl/research. For GeneDx’s complete list of testing options, please visit its website www.genedx.com or email genedx@genedx.com.

*GeneDx will not share individual patient level data as part of this collaboration. Additionally, if this research results in publication, GeneDx will only include patients where explicit consent for publication has been obtained.

About GeneDx

GeneDx is a world leader in genomics with an acknowledged expertise in rare and ultra rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. Providing testing to patients and their families in more than 55 countries, GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly owned subsidiary of OPKO Health, Inc. To learn more, please visit www.genedx.com.

About OPKO Health, Inc.

OPKO Health is a diversified healthcare company that seeks to establish industry leading positions in large, rapidly growing markets. Our diagnostics business includes BioReference Laboratories, the nation’s third largest clinical laboratory with a core genetic testing business and a 400 person sales and marketing team to drive growth and leverage new products, including the 4Kscore prostate cancer test and the Claros® 1 in-office immunoassay platform. Our pharmaceutical business features RAYALDEE, an FDA approved treatment for SHPT in stage 3-4 CKD patients with vitamin D insufficiency (launched in November 2016), VARUBI® for chemotherapy-induced nausea and vomiting (oral formulation and IV forms marketed by partner, TESARO); OPK88003, a once-weekly oxyntomodulin for type 2 diabetes and obesity that is a clinically advanced drug candidate among the new class of GLP-1 glucagon receptor dual agonists, and OPK88004, a selective androgen receptor modulator being developed for benign prostatic hypertrophy and other urologic and metabolic conditions. Our biologics business includes hGH-CTP, a once weekly human growth hormone injection (in Phase 3 and partnered with Pfizer), and a long-acting Factor VIIa drug for hemophilia in Phase 2a. We also have various production and distribution assets abroad, multiple strategic investments and an active business development strategy. More information is available at www.opko.com.

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