CENTOGENE Reveals Growth of Rare Hereditary Disease Knowledge Base

Driving Accelerated Diagnosis and Treatment Development

CAMBRIDGE, MA and BERLIN, GERMANY / ACCESSWIRE / July 1, 2019 / CENTOGENE today revealed the growth in its knowledge-base of rare hereditary diseases. In a recent update to CentoMD(R) – CENTOGENE’s data repository of epidemiologic, phenotypic and clinical data – the Company found that since December 2018 the number of analyzed cases has grown by 16% to more than 360,000, and the number of total variants has increased by 26% to 9.3 million. This now covers data from over 120 countries, underscoring the important ethnic diversity of CENTOGENE’s knowledge-base.

For comparison purposes, ClinVar – the freely available database – contains 510,000 variants as of June 2019, while HGMD Pro contains 255,000 variants as of January 2019.

“We believe CentoMD(R) to be the world’s largest curated mutation database for rare diseases, and an important bridge between genetic variants and clinical interpretations – with a significant number of unpublished variants,” said Dr. Arndt Rolfs, CEO CENTOGENE. “By following a strict data curation process, we are providing highly accurate data relevant to clinical diagnosis and decision-making.”

“Our detailed genetic, proteomic and metabolic analysis is the key to fueling the knowledge base of rare disease patient populations, helping to drive CENTOGENE’s biomarker development program, and support our pharmaceutical partners in accelerating the development of orphan drugs. Ultimately our knowledge and expertise are for the benefit of our rare disease patients to help end the diagnostic odyssey that so many of them face,” Rolfs added.

CentoMD(R) contains data that combines variant information with proteomic and metabolomics information, in particular for high-throughput genes. Classification of variants in CentoMD(R) follows the American College of Medical Genetics and Genomics guidelines for uniform variant classification. With a highly qualified and standardized curation process, CentoMD(R) provides high-quality clinical interpretations of newly identified variants and also ensures that changes in variant classification will be communicated and reflected in clinical interpretations in a timely manner.

More information on CentoMD(R) (v5.4) can be found here.

About CENTOGENE

CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients. We are focused on bringing rationality to treatment decisions and accelerating the development of new orphan drugs by using our knowledge of the global rare disease market, including our epidemiological and clinical heterogeneity and our innovative biomarkers.

As one of the largest rare disease companies worldwide, CENTOGENE is dedicated to transforming the science of genetic information into solutions and creating hope for our patients with rare diseases and their families.

CONTACT:

CENTOGENE AG

Ross Bethell
Director, Corporate Communications
ross.bethell@centogene.com

SOURCE: CENTOGENE

View source version on accesswire.com:
https://www.accesswire.com/550501/CENTOGENE-Reveals-Growth-of-Rare-Hereditary-Disease-Knowledge-Base

user

Recent Posts

Biophytis Extends Its Contract With Atlas to Secure Financing for Its Business Activities

Important note: Biophytis has set up financing in the form of Bonds redeemable in cash…

46 mins ago

Watertown Regional Medical Center Partners with HOPCo To Enhance Orthopedic and Spine Services

WATERTOWN, Wis. and PHOENIX, Ariz., June 19, 2024 /PRNewswire/ -- Watertown Regional Medical Center (WRMC)…

4 hours ago

Quest Diagnostics to Release Second Quarter 2024 Financial Results on July 23, 2024

SECAUCUS, N.J., June 19, 2024 /PRNewswire/ -- Quest Diagnostics Incorporated (NYSE: DGX), a leader in diagnostic…

4 hours ago

MULTI GRAMMY AWARD-WINNING ARTIST LIZZO KICKS OFF 5TH ANNUAL JUNETEENTH GIVEBACK FEATURING IMPACTFUL INITIATIVES AND INSPIRING CONVERSATIONS

LOS ANGELES, June 19, 2024 /PRNewswire/ -- For the fifth consecutive year, multi-Grammy Award and…

4 hours ago

MediOrbis(TM) Partners with Healthyr(TM) to Offer Proven Engagement, Longitudinal Care and Specialty

MediOrbis TM Partners with Healthyr to Offer Proven Engagement, Longitudinal Care and Specialty Telehealth Services…

7 hours ago

Humhealth Simplifies the Medicare Program With All-in-One Software

WIXOM, MI / ACCESSWIRE / June 19, 2024 / Humhealth has emerged as a software…

7 hours ago