CENTOGENE’s Scientific Publications
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Genetic Stratification of Patients with Parkinson’s Disease
While Parkinson’s disease (PD) is clinically homogeneous, it can result from a multitude of genetic and non-genetic causes. Stratifying PD patients accordingly is of utmost importance for focused clinical trials, and CENTOGENE is leading the largest corresponding study ever performed. The study’s…
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Disturbed Growth Signaling Linked to a Novel Disorder
Most studies that report novel gene-disease associations lack functional insights. A recent exception is a high impact paper on a skeletal dysplasia caused by recessive variants in SCUBE3. In a global collaborative effort involving researchers from CENTOGENE, a specific signaling pathway could be…
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An Extended Intellectual Disability Phenotype
Intellectual disability (ID) is amongst the most frequent symptoms of syndromic genetic disorders. Analyzing a multi-generational family, CENTOGENE identified a homozygous nonsense variant in TRAPPC9 causing a form of ID that is associated with autism. The findings were published in Meta Gene.
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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…