Science & Education
Scientific articles
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Moving Towards New Therapies for Fabry Disease
Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme deficiency, enzyme replacement therapy is the standard treatment option. To overcome some of the issues with this strategy,…
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Understanding DNA Alterations in Colorectal Cancer
Germline and somatic DNA alterations may cause inherited diseases and/or cancer. While CENTOGENE’s routine diagnostic focus is on the former, we frequently address oncological questions in research settings. Deep…
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A Novel Genetic Syndrome
Standard genome-scale diagnostics fail to identify a pathogenic variant in up to 50% of patients. CENTOGENE’s free-of-charge ‘research analysis’ of such cases frequently provides strong evidence for yet undescribed…
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Understanding Neurodegeneration in Niemann-Pick Disease
Niemann-Pick (NP) disease is a lysosomal storage disorder that involves the degeneration of certain neurons. A recent study, co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs, investigated this process using an…
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Characterization of an Ultra-Rare Disorder
Novel gene-disease associations are continuously being proposed, but the underlying evidence is frequently based on only a few patients from a single family. CENTOGENE’s focus on rare disease diagnostics has enabled us…
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An Unorthodox Disease Mechanism
Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving…
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Disease relevance of alternative splicing
Alternative splicing of genes usually generates several isoforms. These may code for slightly differing proteins, the disease relevance of which is often not clear. Researchers from CENTOGENE, by reporting a…
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Diagnostic Utility of Biomarkers
Classification of genomic variants in a disease context is a highly formalized process, which benefits from diverse types of information. At CENTOGENE, this routinely involves the quantification of disease-specific…
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Novel Insights into a Rare Disorder
A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly contribute on multiple…
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Novel Genetic Cause for Neurodevelopmental Defects
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of…