Science
Scientific articles
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Defective mRNA Translation and Neurodegeneration
Based on their size and inability to renew, nerve cells are highly vulnerable to defects in many cellular processes, including the translation of mRNA. A recent study involving several researchers from CENTOGENE further emphasizes the importance of proper mRNA translation for neuronal survival.…
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Genetic Confirmation to Solidify Expert Clinical Suspicion
Expert physicians are able to clinically recognize even rare congenital conditions. In saying that, CENTOGENE still advises targeted genetic follow-up aimed at confirming the suspicion, as well as genetic counselling and prenatal diagnostics. An educative example of this constellation was recently…
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A Case Report with High Scientific Value
The value of a case report can be correlated with the rarity of the disorder it covers. A recent paper, which was triggered by a genetic diagnosis issued at CENTOGENE, is of rather high value in this respect. Published in the Journal of Neurogenetics, it describes the 10th patient ever identified to…
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Joining Forces to Understand Ultra-Rare Disorders
Certain genetic disorders are too rare to be investigated in several patients by single centers. Uniform scientific descriptions thus require global collaborations. A pertinent success story, in which >50 partners, including CENTOGENE, joined forces to address an X-linked syndrome, was recently…
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One Genetic Variant – 52 Patients
Schuurs-Hoeijmakers syndrome is one of the few inherited disorders that have been associated with only a single genetic variant. A recent study describes 16 pertinent patients, most of whom were identified by CENTOGENE. This significant extension of the knowledge around Schuurs-Hoeijmakers syndrome…
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Genetic Causes for Late Onset Neuropathy
Slowly progressive health issues in the elderly are usually equated to a general age-related decline. In some patients, however, these health issues may be manifestations of late onset genetic disorders. A recent study, which was co-authored by researchers from CENTOGENE, supports this view by…
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Novel X-linked Syndrome Identified
Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 affected males from a multi-generational family. This revealed OTUD5 as a novel gene associated with an…
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Expanding the Genetics of Impaired Neurodevelopment
The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired neurodevelopment and recessive loss-of-function variants in the gene NEMF. Two of the five families that are…
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A Novel Therapeutic Concept for Fabry Disease
Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but the pathophysiology of the disease remains to be completely understood. A recent study that was co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs revealed misfolding of mutant α-galactosidase in the endoplasmic…
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Continuum of ‘Distinct’ Neurodegenerative Disorders
A neurodegenerative disorder may affect distinct types of nerve cells in a patient-specific manner. This suggests that there is actually a continuum of possible pathologies. A recent case report, which was based on a genetic diagnosis established at CENTOGENE, discusses this phenomenon for ATP13A2.…