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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.

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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A Novel Therapeutic Concept for Fabry Disease

Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but the pathophysiology of the disease remains to be completely understood. A recent study that was co-authored […]

Article
Oct 06, 2020
  • Metabolic Disorders
  • Nephrology
  • Cardiovascular
  • Neurology
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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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Clinical Expertise in Genetic Disorders

The fact that many lysosomal storage disorders may have a neurological component is incompletely understood. Clinical studies on this topic therefore require clear definitions of eligible patient […]

Article
Apr 02, 2020
  • Metabolic Disorders
  • Neurology
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Personalizing Therapeutic Decisions in Fabry Disease

More than a single treatment option is available for some genetic disorders. For Fabry Disease, the optimal choice requires biochemical characterization of the causative mutation. Using a novel […]

Article
Jan 30, 2020
  • Biomarker
  • Cardiovascular
  • Mutation Database
  • Metabolic Disorders
  • Neurology
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Generation of iPSCs for Rare Diseases

Induced pluripotent stem cells (iPSCs) represent excellent in vitro models to study rare diseases and perform high-throughput drug screening. CENTOGENE has established iPSC technology for rare […]

Article
Jan 26, 2020
  • Metabolic Disorders
  • Ophthalmology
  • Neurology
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