CentoMD update reveals further insights into rare diseases

Centogene has announced the release of CentoMD^® 5.8 ̶ the latest update of the curated mutation database for rare diseases, including epidemiologic, phenotypic, and clinical data. Since December 2019, the number of analyzed cases in CentoMD has grown to more than 430,000, and the number of total unique variants increased to over 12.7 million, covering more than 120 countries.

This latest update underlines the company’s continuous commitment to unlocking the deepest knowledge in rare diseases, such as disease-causing variants, precise genetic and biomarker information, and allele frequency. CentoMD 5.8 includes:

• More than 12.7 million unique variants
• More than 81,000 classified and curated variants
• More than 199,000 individuals linked to HPO terms

Prof. Arndt Rolfs, CENTOGENE Chief Executive Officer, said, “CentoMD, what we believe to be the world’s largest curated mutation database for rare diseases, plays an invaluable role in facilitating the most comprehensive diagnosis for rare disease patients. With the latest and most accurate information, we are able to continue bridging the gap between genetic variants and clinical interpretation – ultimately ending patients’ diagnostic odysseys and accelerating the development of life-saving treatments.”

Dr. Volkmar Weckesser, CENTOGENE Chief Information Officer, added, “We continuously strive to provide the most detailed, evidence-based genetic, proteomic, and metabolic information. With each update, we are able to unlock further insights into rare diseases – providing solutions for patients, physicians, and pharma partners around the world.”

The Company has also recently released an update of CentoLSD™, which is believed to be the world's largest knowledge-driven lysosomal storage disease ("LSD") database, to enhance the global understanding and potential treatment opportunities for rare disease patients. Powered by CentoMD, CentoLSD™ allows for researchers, pharmaceutical partners, and clinicians to access a comprehensive database of GBA and GLA genetic variants classified through a standardized curation workflow.

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