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Biomarkers – CentoGuard

Biomarkers play ideally an essential role in the early diagnosis, prediction and therapeutic monitoring of diseases, reflecting the burden of the disease for the patients. Regular monitoring both for disease onset and progression but also demonstrating the benefit of potential treatment are of high value for the patients. Biomarkers bring rationality in the treatment of patients with rare diseases.

Articles on Biomarkers

  • 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…

  • 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…

  • 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…

  • 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…

  • 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…