CONTEXT:  As the parent of a son who is still undiagnosed but probably has a Fragile X like syndrome, this news is extremely heartening.  To see Real-World Data being used in such a positive way to impact the lives of rare disease patients and their families.  I know form experience that just knowing what the problem is more than half the battle.  

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1. “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.” 

2. “Research leads to diagnosis and treatment options for rare disease patients. More than half of patients with genetic diseases remain undiagnosed, even after performing Exome and Genome Sequencing. By performing deep genetic analyses and Bio/Databank mining, CENTOGENE discovers six novel gene-disease associations and evidence supporting 31 candidate genes. Study reveals value of such Bio/Databanks in diagnosing and accelerating treatment options for rare disease patients. CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, May 05, 2021 (GLOBE NEWSWIRE) — 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.” 

3. “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.” 

4. “To read the complete study in Genetics in Medicine, visit: 01159-0. 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.” 

5. “Forward-looking statements are subject to many risks, uncertainties, and other variable circumstances, such as negative worldwide economic conditions and ongoing instability and volatility in the worldwide financial markets, the effects of the COVID-19 pandemic on our business and results of operations, possible changes in current and proposed legislation, regulations and governmental policies, pressures from increasing competition and consolidation in our industry, the expense and uncertainty of regulatory approval, including from the U.S. Food and Drug Administration, our reliance on third parties and collaboration partners, including our ability to manage growth and enter into new client relationships, our dependency on the rare disease industry, our ability to manage international expansion, our reliance on key personnel, our reliance on intellectual property protection, fluctuations of our operating results due to the effect of exchange rates, or other factors.” 

Source URL: https://finance.yahoo.com/news/centogene-discovers-six-rare-diseases-103000867.html