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Scientific 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.

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 […]

Article
Sep 28, 2021
  • Biomarker
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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 […]

Article
Aug 09, 2021
  • Biomarker
  • Neurology
  • Mutation Database
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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 […]

Article
Jul 18, 2021
  • Biomarker
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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 […]

Article
Jun 12, 2021
  • Biomarker
  • Multiomics
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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 […]

Article
May 29, 2021
  • Biomarker
  • Metabolic Disorders
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Turning Rare Disease Networks into Knowledge

CENTOGENE’s well-recognized expertise in Gaucher disease (GD) has helped to establish a global network of physicians interested in and aware of this rare metabolic disorder. The fact that CENTOGENE […]

Article
Jan 19, 2021
  • Hepatology
  • Metabolic Disorders
  • Neurology
  • Hematology
  • Biomarker
  • NGS
  • Mutation Database
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Large Patient Cohort Enables Insights into a Rare Disease

Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive understanding. A recent study on a large cohort of patients provides unprecedented novel insights into FD. The […]

Article
Aug 18, 2020
  • Metabolic Disorders
  • WES
  • Mutation Database
  • Biomarker
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Successful Monitoring of Gaucher Disease

Biomarkers are key tools in establishing a diagnosis and monitoring rare disorders. The lipid metabolite Lyso-Gb1 has long been known as an excellent diagnostic biomarker. In a recent study, which […]

Article
Jun 26, 2020
  • Biomarker
  • Metabolic Disorders
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Testing of Novel Treatment Options for Niemann-Pick Disease

The search for causative treatments continues to be a leading challenge in rare disease research. Using varying models, researchers recently investigated the potential effects of a novel candidate […]

Article
Jun 23, 2020
  • Biomarker
  • Metabolic Disorders
  • Neurology
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