Science & Education
Scientific articles
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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 corresponding research…
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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 approach, including in…
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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 a part of, recently…
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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 systematically…
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One Gene – Two Modes of Inheritance
While most genetic disorders have one clearly defined mode of inheritance, the existence of rare exceptions is being increasingly recognized. A recent diagnostic finding at CENTOGENE revealed that mutations in PRKD1 can…
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Six Novel Gene-Disease Associations
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 genetic analyses and…
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Recognition of CENTOGENE's Scientific Expertise
Review articles constitute a unique type of scientific publication, as they summarize, rather than present, observations and interpretations. In prestigious journals, they are commonly provided by the most recognized…
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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 helped to identify yet…
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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 fusion protein is…
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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 ‘Letter to the Editor’ by…