Scientific Publications
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Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.
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Genetics of the Blood-Brain Barrier
Proper function of the blood-brain barrier relies on the so-called tight junctions. In four families, one of which was identified at CENTOGENE, mutations in the tight junction-encoding gene JAM2 were […]
Insights Into an Ultra Rare Disease
Rarity of a disease usually correlates with a limited understanding. Case reports about diagnosed patients are thus very important. A recent study based on genetic findings at CENTOGENE exemplifies […]
A Novel Neurodevelopmental Disorder
Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe […]
Personalizing Therapeutic Decisions in Fabry Disease
More than a single treatment option is available for some genetic disorders. For Fabry Disease, the optimal choice requires biochemical characterization of the causative mutation. Using a novel […]
Frequent Genetic Cause of Seizures Identified
The etiology of seizures is highly heterogeneous and involves an unknown number of distinct genetic disorders. An international team of researchers recently defined recessive mutations in the UGDH […]
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 […]
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 […]
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 […]
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 […]