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Science

 

Genes do not encode secrets, they reveal them.

Prof. Dr. Hans-Jürgen Quadbeck-Seeger

German chemist


Science

Scientific articles

  • Biomarker-Based Monitoring of Treatment Efficacy

    The value of most metabolic biomarkers is restricted to diagnostic settings. A few biomarkers, however, can also be used to monitor treatment efficacy. A recent study published in the Journal of Molecular Sciences provided impressive evidence that CENTOGENE’s Gaucher disease-specific biomarker…

  • Collaborative Discovery of Gene-Disease Associations

    The delineation of novel genetic disorders is facilitated by the formation of global research consortia. By actively contributing to collaborative efforts, CENTOGENE has supported dozens of gene-disease discovery projects over the past years. One such example was recently published in Genetics in…

  • COVID-19 and Parkinson’s Disease

    As one of the company’s priority diseases, CENTOGENE is continuously carrying out research into the causes of Parkinson’s disease (PD). A recurrent observation has been a temporal link of the development of PD to SARS-CoV-2 infections. Corroborating similar findings by others, a corresponding study…

  • Sharing Diagnostic Insights to Support Rare Disease Patients

    Defining a disorder’s complete clinical spectrum requires a detailed description of large numbers of patients. To help advance the understanding of rare diseases, CENTOGENE is committed to leveraging its extensive Bio/Databank and sharing its diagnostic insights within the scientific community. A…

  • Multiomic Characterization of Rare Disease Patients

    Applying a multiomic approach to rare genetic diseases has great potential to synergistically generate truly novel insights. CENTOGENE is therefore complementing its rich phenomic and genomic datasets with data from untargeted metabolomics. A methodological description of the approach was recently…

  • Improving Diagnostic Options for Rare Diseases

    A diagnostic strategy for rare diseases based on a combination of standard laboratory parameters has long been sought after. To help advance this approach, CENTOGENE actively participates in corresponding research initiatives. Data from one such study, addressing Gaucher disease, was recently…

  • Modifiers of Genetic Disease

    Therapeutic strategies for monogenic diseases may be derived from the identification and understanding of disease-modifying factors. Researchers at CENTOGENE have been applying this rather novel approach, including in collaborative settings with academic colleagues from institutions around the…

  • A Novel Genetic Cause for Autoinflammation

    Genetic inflammatory disorders are quite rare, particularly those presenting with a pathological increase, rather than decrease, of inflammatory activity. A global consortium, of which CENTOGENE was a part of, recently identified a novel autoinflammatory disorder that primarily affects the nervous…

  • Globally Rare – Locally Common

    Genetic diseases that are generally rare may still have a high prevalence in certain geographic regions. As a major diagnostic partner for physicians in certain countries, CENTOGENE has been able to systematically investigate patient cases based on highly uniform data sets. A corresponding study…

  • One Gene – Two Modes of Inheritance

    While most genetic disorders have one clearly defined mode of inheritance, the existence of rare exceptions is being increasingly recognized. A recent diagnostic finding at CENTOGENE revealed that mutations in PRKD1 can cause heart defects not only in an autosomal dominant, but also in an autosomal…