CentoMD® offers a comprehensive summary of the clinical validity and causality of detected gene variants with their associated phenotypes, and is a valuable tool for identifying new disease genes through the correlation of novel genetic variants with specific, well-defined phenotypes from more than 115 represented countries.
Articles on Mutation Database
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Turning Rare Disease Networks into Knowledge
CENTOGENE’s well-recognized expertise in Gaucher disease (GD) has helped to establish a global network of physicians interested in and aware of this rare metabolic disorder. The fact that CENTOGENE is meanwhile the primary nationwide GD partner in many countries enables unprecedented insights into…
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Genetic Cause of Impaired Neurodevelopment
Development of the nervous system is a complex process, with NEUROG1 being one out of many genes involved. The critical role of this gene was recently confirmed by CENTOGENE, when a patient with disturbed neurodevelopment was observed as having the gene knocked out. The finding was published in…
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Exemplifying the High Value of CentoMD®
Rare disease research usually focuses on pathogenic genetic variants. The lack of a disease-association for certain types of variants, however, can also be very telling. Pertinent insights into Parkinson’s disease were recently obtained by researchers at CENTOGENE. The resulting study, which built…
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A Rare Genetic Disease in Which Symptoms Naturally Improve
While most genetic disorders progress from mild to severe, a certain form of muscle disease was suggested to represent an exception. However, this was based on observations in only two patients. As a result of identifying three additional patients, scientists at CENTOGENE have now been able to…
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Genetic Stratification of Patients with Parkinson’s Disease
While Parkinson’s disease (PD) is clinically homogeneous, it can result from a multitude of genetic and non-genetic causes. Stratifying PD patients accordingly is of utmost importance for focused clinical trials, and CENTOGENE is leading the largest corresponding study ever performed. The study’s…