CENTOGENE Discovers Six New Rare Diseases by Leveraging the Strength of Its Bio/Databank

CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN – 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 research revealing six novel gene-disease associations for a wide range of genetic disorders and confirmation of 31 additional candidate genes. The findings are a result of in-depth analyses into the Company’s rare disease Bio/Databank, after standard genetic testing was unable to determine the exact cause of symptoms. As a result, over 90 patients were able to finally receive a diagnosis – opening the potential to diagnose countless others following further research. Additionally, these findings have revealed potential treatment options for patients based on known-disease overlaps.

The landmark study’s findings have been published in Genetics in Medicine (https://www.nature.com/articles/s41436-021-01159-0) – the official Journal of the American College of Medical Genetics and Genomics.

Prof. Peter Bauer, Chief Genomic Officer at CENTOGENE, said, “There are more than 7,000 rare diseases that are known to date, and our research shows that there are even more to be identified. We see it as our responsibility to dive deeper into patient information when carrying out genetic testing. In this case, we were able to provide patients with a diagnosis with diseases that were not previously on anyone’s radar. Even more, we were able to help improve their quality of life – opening up treatment and management options.”

“Although technological advancements over the past decade have led to improved diagnostics, our study shows that simply applying a genetic test is not enough,” adds Dr. Aida Bertoli-Avella, Head of Research Data Analysis. “Especially when it comes to rare diseases, you have to look past the surface – using advanced tools to reveal the underlying cause of a disease and open up a new world of treatment options.”

The research led to over 90 patients receiving a diagnosis based on the six new revealed rare diseases and 31 candidate genes – gaining access to future treatment options and improved medical management.

About the Study

While technology has advanced over the past ten years, more than half of patients with genetic diseases remain undiagnosed, even after applying genome-wide diagnostic approaches. The challenge of variant interpretation remains at the forefront of diagnostic challenges, in part due to the missing gene-phenotype link.

Leveraging CENTOGENE’s rare disease Bio/Databank, the Company carried out an extensive Exome Sequencing and Genome Sequencing evaluation of genes with no known disease association and patients suffering genetic diseases that had remained undiagnosed. From there, the Company performed analyses on its biobank using specific criteria, which enabled further identification of unrelated patients displaying similar phenotypes. Ultimately, this led to the discovery of six novel gene-disease associations based on 38 severely affected patients with variants in six genes: BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699, as well as the elucidation of 31 additional candidate genes.

To read the complete study in Genetics in Medicine, visit: https://www.nature.com/articles/s41436-021- 01159-0


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 over 3.9 billion weighted data points from approximately 600,000 patients representing over 120 different countries as of December 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 December 31, 2020, the Company collaborated with over 30 pharmaceutical partners.

Contact Data:

Media Contact: CENTOGENE Ben Legg Corporate Communications

FTI Consulting Bridie Lawlor O’Boyle +1.917.929.5684