CentoMD® Update Reveals Further Insights Into Rare Diseases
August 11 2020 - 5:30AM
Centogene N.V. (Nasdaq: CNTG), 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, announced today a release of CentoMD®
5.8 ̶ the latest update of the Company’s 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.
About CENTOGENE
CENTOGENE engages in diagnosis and research
around rare diseases transforming real-world clinical and genetic
data into actionable information for patients, physicians, and
pharmaceutical companies. Our goal is to bring rationality to
treatment decisions and to accelerate the development of new orphan
drugs by using our extensive rare disease knowledge, including
epidemiological and clinical data, as well as innovative
biomarkers. CENTOGENE has developed a global proprietary rare
disease platform based on our real-world data repository with
approximately 3.0 billion weighted data points from over 530,000
patients representing over 120 different countries as of March 31,
2020.
The Company’s platform includes epidemiologic,
phenotypic, and genetic data that reflects a global population, and
also a biobank of these patients’ blood samples. CENTOGENE believes
this represents the only platform that comprehensively analyzes
multi-level data to improve the understanding of rare hereditary
diseases, which can aid in the identification of patients and
improve our pharmaceutical partners’ ability to bring orphan drugs
to the market. As of March 31, 2020, the Company collaborated with
39 pharmaceutical partners covering over 45 different rare
diseases.
Media Contact:
CENTOGENE
Melissa Hall
Corporate Communications
press@centogene.com
FTI Consulting
Bridie Lawlor
+1.917.929.5684
bridie.lawlor@fticonsulting.com
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