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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Novel Genotype-Phenotype Association with Wide-Ranging Implications
Cystic fibrosis (CF) is the most prevalent autosomal recessive genetic disorder; it has been assumed to be genetically homogeneous. Researchers at CENTOGENE, however, have now identified a second CF […]
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 […]
Linking Seizures and Amino Acid Homeostasis
Seizures are part of the phenotypic spectrum in numerous rare disorders, but the underlying pathophysiology is rarely understood. For a novel seizure syndrome, the transmembrane transport of certain […]
Combining Genetic Insights and Therapeutic Efforts
The delineation of a novel rare disease is commonly a stand-alone research project. An international consortium, in which CENTOGENE played a major role, showcased how disease discovery can […]
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 […]
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 […]
COVID-19 and Parkinson’s Disease
As one of the company’s priority diseases, CENTOGENE is continuously carrying out research into the causes of Parkinson’s disease (PD). A recurrent observation has been a temporal link of the […]