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     110  0 Kommentare CentoMD Update Reveals Continued Growth of Rare Hereditary Disease Knowledge Base

    Supporting Patients for Accelerated Diagnosis and Treatment Development

    CAMBRIDGE, Mass. and ROSTOCK, Germany, Dec. 16, 2019 (GLOBE NEWSWIRE) -- In an update released today by CENTOGENE (Nasdaq: CNTG) to CentoMD - the Company’s data repository of epidemiologic, phenotypic, and clinical data, - since September 2019 the number of analyzed cases has grown by 11% to more than 400,000, and the number of total variants has increased to 12.2 million from across 120 countries.

    This latest update demonstrates furthers connections between genetic variants and clinical interpretation, by combining precise clinical genetic and biomarker information. Newly generated knowledge and data are based on disease-causing variants confirmed by biomarker data. This includes:

    • More than 12.2 million unique variants
    • More than 3,700 associated phenotypes
    • Approximately 175,000 individuals-HPO associations

    “CentoMD, what we believe to be the world’s largest curated mutation database for rare diseases, is extremely important for connecting genetic variants and clinical interpretation - including a huge number of unpublished variants,” said Dr. Arndt Rolfs, CEO CENTOGENE. “Our strict data curation process ensures that we are providing accurate data relevant for diagnosis and decision-making.”

    “Moreover, the detailed genetic, proteomic, and metabolic analysis in CentoMD is the key to fueling the knowledge base of rare disease patient populations, helps to drive CENTOGENE’s biomarker development program, and supports our pharmaceutical partners in accelerating the development of orphan drugs. But we must always remember that our expertise and knowledge are ultimately for the benefit of our rare disease patients - we have a lifetime commitment to our patients.”

    About CENTOGENE

    CENTOGENE is a commercial-stage company focused on rare diseases that transforms real-world clinical and genetic data into actionable information for patients, physicians and pharmaceutical companies. The Company’s goal is to bring rationality to treatment decisions and to accelerate the development of new orphan drugs by using our knowledge of the global rare disease market, including epidemiological and clinical data and innovative biomarkers. CENTOGENE has developed a global proprietary rare disease platform based on our real-world data repository with approximately 2.1 billion weighted data points from approximately 465,000 patients representing over 120 different countries as of September 30, 2019, or an average of over 500 data points per patient.

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    CentoMD Update Reveals Continued Growth of Rare Hereditary Disease Knowledge Base Supporting Patients for Accelerated Diagnosis and Treatment DevelopmentCAMBRIDGE, Mass. and ROSTOCK, Germany, Dec. 16, 2019 (GLOBE NEWSWIRE) - In an update released today by CENTOGENE (Nasdaq: CNTG) to CentoMD - the Company’s data repository of …