Science & Education
Scientific articles
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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…
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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…
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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…
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De novo variants in TAOK1 cause neurodevelopmental disorders
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…
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A therapy with miglustat, 2-hydroxypropyl-beta-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1.
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…
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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
The discovery of novel genetic disorders increasingly relies on large databases and on collaborative international efforts. CENTOGENE is proud to be part of numerous pertinent research endeavors. A recently accomplished…
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Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
The genetic knowledge around rare hereditary diseases is rapidly increasing. Patients having received a negative diagnostic report may thus gain from a re-analysis of their exomes or genomes. A recent CENTOGENE-initiated…
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Gluosylsphingosine (lyso-Gb1) as a biomarker for monitoring treated and untreated children with Gaucher disease
Metabolic biomarkers are well-accepted diagnostic tools, and may also qualify for monitoring purposes. The longitudinal dynamics of Lyso-Gb1, an established diagnostic biomarker for Gaucher disease (GD), was recently…
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"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
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…
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CENTOGENE’s Variant Prioritization: Big Data and AI Driving Rare Disease Diagnosis
With big data being a key enabler of any successful artificial intelligence effort, CENTOGENE is ideally suited to employ artificial intelligence (AI) in our diagnostic workflow.