Back

Publications

Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.

  1. Home
  2. Science
  3. Publications

CENTOGENE’s Scientific Publications

  • 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…