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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.

Defining the Clinical Spectrum of Rare Disorders

Many rare disorders, despite being considered syndromic, may manifest with only a single clinical symptom. A CENTOGENE-led epidemiological clinical study provided impressive evidence for the […]

Article
Oct 16, 2021
  • NGS
  • Neurology
  • Cardiovascular
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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 […]

Article
Apr 20, 2021
  • WGS
  • Cardiovascular
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Novel X-linked Syndrome Identified

Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 […]

Article
Oct 31, 2020
  • WES
  • Neurology
  • Cardiovascular
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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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One Gene – Two Mutational Mechanisms

For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with […]

Article
Sep 09, 2020
  • Neurology
  • Cardiovascular
  • WGS
  • Mutation Database
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Epidemiology of a Rare Protein Aggregation Disorder

Some genetic disorders are caused by an accumulation of the mutated protein, with hereditary ATTR amyloidosis (hATTR) being a prime example. Therapeutic strategies that target these toxic aggregates […]

Article
Jul 14, 2020
  • Cardiovascular
  • Neurology
  • Mutation Database
  • NGS
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Novel Causes for Heart Malformations

An ever-increasing number of genes have been linked to heart malformations. For ADAMTS19, the most recent addition to this list, a querying of CENTOGENE’s well-curated database - CentoMD® - […]

Article
May 18, 2020
  • Cardiovascular
  • Mutation Database
  • NGS
  • WES
  • WGS
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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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Moving Towards New Therapies for Fabry Disease

Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme deficiency, enzyme replacement therapy is the standard treatment option. To overcome some of the issues with […]

Article
Jan 02, 2020
  • Biomarker
  • Neurology
  • Nephrology
  • Cardiovascular
  • Metabolic Disorders
  • Endocrinology
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