Science
Scientific articles
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Informing therapeutic decisions in a rare disorder
Therapy for Gaucher disease, a rare metabolic disorder, has been available for almost 30 years, but whether all patients should receive the costly treatment has remained controversial. Upon longitudinal analysis of untreated patients, those with mild disease have now been shown to remain clinically…
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Disturbed lipid metabolism causes congenital disease
Lipid metabolism is crucially involved in embryonic development, and recent research uncovered yet another link. Genetic screening revealed that inactivation of the enzyme sphingomyealinase-3 results in prenatal abnormalities, and in vitro studies defined the underlying pathophysiology. The study,…
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New genetic cause of severe heart disease
Heart disease is a clinically and genetically diverse condition. In two siblings with a fatal outcome, compound heterozygosity for variants in the ASNA1 gene was identified as the only plausible cause upon exome sequencing at CENTOGENE. Functional data that were contributed by academic collaborators…
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Fetal exome sequencing in a real world setting
Fetal exome sequencing (fES) has been available for some time, but systematic analyses of the outcome are scarce. Based on a series of cases evaluated at CENTOGENE, diagnostic yield of fES was found to be impacted by (i) presence of ultra-sound abnormalities, (ii) positive family history, and (iii)…
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Insights into the pathophysiology of Niemann-Pick disease
Lysosomal storage disorders (LSDs) are a central focus of research as performed at CENTOGENE. Characterization of a mouse model for the LSD Niemann-Pick disease suggested that defects in a cholesterol-associated signaling pathway may contribute to the neurological manifestations of this disorder.…
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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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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…