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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Biomarkers: Accelerating Diagnoses and Guiding Treatments
Watch our webinar, where Prof. Peter Bauer, MD discusses a multiomic approach to accelerate the interpretation of data and the development of life-changing biomarkers for rare diseases. Throughout the webinar, he will provide an overview of the challenges of diagnosing rare diseases and give…
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Consanguinity and Recessive Disorders
High consanguinity is associated with a high prevalence of recessive genetic disorders. CENTOGENE recently contributed to a study which confirmed this notion in Arab communities in Israel. Whole exome sequencing identified causative homozygous variants in >50% of patients with neurological…
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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 recently shown to result in brain calcification.
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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 this notion for Xia-Gibbs Syndrome. It was published in Molecular Syndromology.
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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 assay, researchers from Rostock University and CENTOGENE have now re-investigated almost 200 Fabry…