Centogene database offers rare-disease insights

By Jenni Spinner contact

- Last updated on GMT

(peshkov/iStock via Getty Images Plus)
(peshkov/iStock via Getty Images Plus)

Related tags: Data management, Rare disease, Drug discovery, Research

The newly expanded CentoMD 5.8 mutation database includes clinical, epidemiologic and phenotypic data from more than 430,000 analyzed cases.

Centogene NV, a company focused on helping pharma companies and other stakeholders harness real-world data, has released CentoMD 5.8, the latest updated of its mutation database for rare diseases. The number of total unique variants available in the resource reportedly has increased to more than 12.7m, covering more than 120 countries.

According to the company, this most recent update continues the company’s commitment to unlocking knowledge in rare diseases, such as disease-causing variants, precise genetic and biomarker information, and allele frequency. CentoMD 5.8 includes more than 12.7m variants, more than 81,000 classified and curated variants, and more than 199,000 individuals linked to HPO terms

Arndt Rolfs, CEO of Centogene, said the company offers what they believe is the world’s largest curated mutation database for rare diseases, playing an “invaluable” part in making it possible to provide rare-disease patients with comprehensive diagnoses

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​,” Rolfs said.

Centogene’s chief information officer Volkmar Weckesser said the company is dedicated to providing useful information for pharmaceutical companies and other stakeholders dedicated to understanding and treating rare diseases.

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

In addition to the CentoMD 5.8 update, Centogene also recently recently released an update of CentoLSD, which according to the company is believed to be the world's largest knowledge-driven lysosomal storage disease (LSD) database. The update reportedly helps 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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