Science
Scientific articles
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Novel disease gene discovered
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 corresponding project identified mutations in the PIGB gene as underlying a…
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Optimization of diagnostic yield
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 study provided impressive evidence for this hypothesis. In a set of patients…
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Utility of a CENTOGENE-developed biomarker
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 determined using CENTOGENE’s corresponding mass-spectrometry assay. Based on…
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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.
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Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
Disease expressivity varies widely in many genetic disorders, and identifying the underlying modifiers holds great translational potential. Based on its resources as regards technologies and samples, CENTOGENE is uniquely positioned to significantly contribute to pertinent efforts. One recent…
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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
Major problems with rare diseases are related to the paucity and the heterogeneity of scientific publications. Standardized large-scale data compilation is one approach to overcome these issues. CENTOGENE meticulously curates consented clinical and genetic observation, and openly shares such…
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Application of iPSC Technology in Orphan Drug Development
One of the major challenges in orphan drug development for rare genetic diseases is the lack of predictive high-throughput compound screening systems. While the underlying pathophysiology may be easier to investigate in monogenic diseases, in-vivo animal-based disease models often cannot…
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Genotype Phenotype Correlation in a New Fabry-Disease-Causing Mutation
The interpretation of missense variants in a disease context is challenging, especially for variants that have never been reported before. In metabolic disorders, the potential of biochemical analyses for assisting in variant classification is increasingly recognized. CENTOGENE therefore combined…
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A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism
Disease expressivity varies widely in many genetic disorders, and identifying the underlying modifiers holds great translational potential. Based on its resources as regards technologies and samples, CENTOGENE is uniquely positioned to significantly contribute to pertinent efforts. One recent…
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Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
CENTOGENE considers its global positioning a key aspect for generating truly novel knowledge. The company’s involvement in a recent large-scale epidemiological study in India nicely exemplifies the success of this approach. Upon genetic screening of Indian patients with chronic liver disease, many…