Scientific Publications
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A Multiomic Approach to Diagnosing Patients and Accelerating Treatments
An approach which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders.
Broader Applicability of Rare Disease Biomarker
Biomarkers have the potential to serve numerous purposes (diagnosis, prognosis, monitoring, etc.) when well-characterized in large cohorts of patients and controls. Building on its rich source of […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 […]