Science
Scientific articles
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Optimizing genetic diagnostics in childhood neurological disease
Costs for genetic testing correlate with comprehensiveness of the tests applied. Clinical exome sequencing (CES) represents an intermediate-cost and intermediate-comprehensiveness option. In a recent study on 88 children that had been referred to CENTOGENE because of severe neurological phenotypes,…
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Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test
Interpretation of genetic variants as pathogenic or benign strongly benefits from functional investigations. Researchers at CENTOGENE, together with colleagues from Rostock University, have developed a pertinent cellular assay for the NPC1 gene, involved in Niemann-Pick disease. The successful…
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Unprecedented insights into an ultra-rare disorder
CENTOGENE’s strategy to provide accurate genetic diagnoses incorporates standardized compilation and curation of clinical observations. Its sample collection platform CentoCard®, in addition, facilitates biochemical analysis in a research setting for consented cases. The resulting datasets are…
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Genetic modifiers in hereditary breast cancer
Age at manifestation varies widely in carriers of cancer susceptibility variants. A recent study involving scientists from CENTOGENE suggested that this phenomenon is partially explained by certain genetic modifiers. The study appeared in BMC Cancer in August.
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Delineation of a novel neuro-metabolic syndrome
Neurodevelopmental defects are genetically very diverse, and novel corresponding disease genes continue to be discovered. A recent example is the association between PIGB inactivation and a congenital neuro-metabolic syndrome. The study, which partially built on analyses performed at CENTOGENE, was…
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Novel neurodevelopmental disorder identified
Numerous genes are important for proper development of the nervous system. As part of an international research team, researchers at CENTOGENE contributed to the identification of a novel cause for impaired neurodevelopment. They identified mutations in SVBP, the protein product of which is…
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Editorial on biomarkers
The reputation of CENTOGENE’s scientists is reflected by membership in several editorial boards. In a corresponding Editorial for the newly launched Journal of Biochemical and Clinical Genetics, CEO Prof. Arndt Rolfs and CSO Prof. Peter Bauer discuss the utility of biomarkers in the field of rare…
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Improved diagnostic options
Large genomic rearrangement mutations are hard to detect by conventional genetic diagnostic approaches, but easily identified by the MLPA technology. For MPS I, a recessive lysosomal storage disorder, a correspondingly developed approach involving scientists from CENTOGENE proved highly successful.…
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High scientific value of CentoMD®
Many of the as yet undescribed genetic disorders are ultra-rare. Identification of novel gene-disease associations thus relies on well-curated clinical-genetic data such as contained in CENTOGENE’s proprietary database CentoMD®. In a pertinent recent research project, CentoMD® was used to unravel a…
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Extension of rare disease therapeutic options
Treatment options for rare genetic diseases are often tested in cellular or animal models. CENTOGENE happily supports such projects in collaborative research settings. A recent example relates to a novel therapeutic cocktail for Niemann-Pick disease. Promising preliminary data were obtained in a…