Scientific Publications
Curious About the Latest Scientific Discoveries?
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.
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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 […]
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 […]
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 […]
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 […]
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 […]
Leveraging the CENTOGENE Biodatabank and Genomic Testing to Discovers Six New Rare Diseases
While technology has advanced over the past ten years, more than half of patients with genetic diseases remain undiagnosed, even after applying genome-wide diagnostic approaches. By performing deep […]
A Genetic Cause for Infectious Disease
While infectious diseases are commonly connected to environmental factors, genetic defects in some genes can strongly increase a person’s susceptibility to infections. Data generated at CENTOGENE […]
The Importance of Neuronal Membrane Biology
Nerve cells have a uniquely large surface-to-volume ratio, suggesting a central role for proper membrane turnover in these cells. A recent study confirmed this paradigm by showing that a membrane […]
A Dispute on Rare Disease Diagnostic Offerings
CENTOGENE was amongst the first providers of diagnostic Whole Genome Sequencing (WGS) and published real-life experience with this technology in 2020. That paper was subsequently challenged in a […]