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Science

 

Genes do not encode secrets, they reveal them.

Prof. Dr. Hans-Jürgen Quadbeck-Seeger

German chemist


Science

Scientific articles

  • 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 Bio/Databank mining, CENTOGENE discovered six novel gene-disease associations and…

  • 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 experts in the field. A pertinent example involving CENTOGENE authorship was…

  • 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 another example of this rare phenomenon. The findings, which revealed a novel…

  • 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 mutated in patients with a novel form of ataxia. These findings, which critically…

  • 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 a competitor. We happily accepted the offer to draft a reply – advocating our…

  • An Unusual Kind of Repeat Expansion Disorder

    Repeat expansions are the cause of Huntington’s disease and several forms of ataxia. The affected repeat units are usually three to six nucleotides in length, and pathogenic alleles have accumulated at least several dozen units. In a newly described neurological disorder, a single extra unit of a…

  • Diagnostic Relevance of Intronic Variants

    Proper splicing of mRNA requires certain DNA sequence motifs. Since these motifs are very diverse, the effects of variants in them are not easy to predict. By combining CENTOGENE’s genetic testing with the histology of patient samples, an unusual intronic variant was recently revealed to be clearly…

  • Exemplifying the Strengths of Genome Sequencing

    Certain genetic variants are easily missed by Exome Sequencing (ES), but readily detected by Genome Sequencing (GS). Utilizing the superiority of the latter technology, CENTOGENE identified such a variant as the cause of a novel disorder. Teaming up with academic colleagues for functional studies on…

  • Utilization of CentoMD® in Scientific Settings

    The interpretation of newly observed genetic variants that are suspected to cause disease requires knowledge about their occurrence in different populations. CENTOGENE’s uniquely rich and diverse database - CentoMD® - is frequently encountered by academic consortia in need of such information. A…

  • 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 is meanwhile the primary nationwide GD partner in many countries enables unprecedented insights into…