The majority of novel disease genes is currently being identified in less well-investigated consanguineous populations. Based on its corresponding global positioning, CENTOGENE has been able to contribute significantly to such research projects. The most recent example is the discovery of recessive mutations in the transcription factor PAX7 to underlie a new form of muscle disease. The findings were published in Genetics in Medicine, one of the leading journals in the field.
Disease expressivity varies widely in many genetic disorders, and identifying the underlying modifiers holds great translational potential. Based on its resources as regards technologies and samples, CENTOGENE is uniquely positioned to significantly contribute to pertinent efforts. One recent example revealed a novel modifier of disease severity and cognitive dysfunction in X-linked dystonia-parkinsonism. The results were published in the highly prestigious journal Annals of Neurology.
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