CentoMD® Update Reveals Continued Growth of Rare Hereditary Disease Knowledge Base

Supporting Patients for Accelerated Diagnosis and Treatment Development

Cambridge, MA USA & Rostock, Germany December 13, 2019 - In an update released today, CENTOGENE (Nasdaq: CNTG) revealed that since September 2019, CentoMD®  ̶  the Company’s data repository of epidemiologic, phenotypic, and clinical data, 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 further 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is extremely important for connecting genetic variants and clinical interpretation  ̶   including a huge number of unpublished variants,” said Dr.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.”