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Science

 

Genes do not encode secrets, they reveal them.

Prof. Dr. Hans-Jürgen Quadbeck-Seeger

German chemist


Science

Scientific articles

  • Defining the Clinical Spectrum of Rare Disorders

    Many rare disorders, despite being considered syndromic, may manifest with only a single clinical symptom. A CENTOGENE-led epidemiological clinical study provided impressive evidence for the relevance of this phenomenon in hereditary TTR-related amyloidosis. The study’s results were published in…

  • Linking Seizures and Amino Acid Homeostasis

    Seizures are part of the phenotypic spectrum in numerous rare disorders, but the underlying pathophysiology is rarely understood. For a novel seizure syndrome, the transmembrane transport of certain amino acids could now be identified as the primarily defective cellular process. These findings, to…

  • Combining Genetic Insights and Therapeutic Efforts

    The delineation of a novel rare disease is commonly a stand-alone research project. An international consortium, in which CENTOGENE played a major role, showcased how disease discovery can conceptually be combined with therapeutic approaches in a single comprehensive study. The resulting paper…

  • An Innovative Approach for Biomarker Discovery

    Some genetic disorders, including hereditary angioedema (HAE), do not manifest chronically, but by unpredictable attacks. CENTOGENE has developed a protocol for the collection of patient samples during these critical phases. The first clinical study to apply this protocol in a biomarker discovery…

  • Working Towards a Better Understanding of Parkinson’s Disease

    Detailed characterization of large patient cohorts in a uniform manner is critical for gaining therapeutically relevant insights into rare diseases. CENTOGENE is a major stakeholder in the LIPAD Study, a pertinent project focused on Parkinson’s disease cohorts. The concept and the goals of this…

  • 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…