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Neurology

The goal of genetic testing for hereditary neurological diseases is to determine whether or not a patient has the disease, or is likely to develop it. Determining the molecular cause of a neurological disease can open the door to individually tailored treatment and medical care, and allow families to avoid invasive and often costly testing and procedures.

Articles on Neurology

  • Delineation of a novel neuro-metabolic syndrome

    Neurodevelopmental defects are genetically very diverse, and novel corresponding disease genes continue to be discovered. A recent example is the association between PIGB inactivation and a congenital neuro-metabolic syndrome. The study, which partially built on analyses performed at CENTOGENE, was…

    Article with topic Metabolism, Neurology, WES
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  • Novel neurodevelopmental disorder identified

    Numerous genes are important for proper development of the nervous system. As part of an international research team, researchers at CENTOGENE contributed to the identification of a novel cause for impaired neurodevelopment. They identified mutations in SVBP, the protein product of which is…

    Article with topic Neurology, WES, Mutation database
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  • High scientific value of CentoMD®

    Many of the as yet undescribed genetic disorders are ultra-rare. Identification of novel gene-disease associations thus relies on well-curated clinical-genetic data such as contained in CENTOGENE’s proprietary database CentoMD®. In a pertinent recent research project, CentoMD® was used to unravel a…

    Article with topic Neurology, WES, Mutation database
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  • Extension of rare disease therapeutic options

    Treatment options for rare genetic diseases are often tested in cellular or animal models. CENTOGENE happily supports such projects in collaborative research settings. A recent example relates to a novel therapeutic cocktail for Niemann-Pick disease. Promising preliminary data were obtained in a…

    Article with topic Metabolism, Neurology
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  • Novel disease gene discovered

    The discovery of novel genetic disorders increasingly relies on large databases and on collaborative international efforts. CENTOGENE is proud to be part of numerous pertinent research endeavors. A recently accomplished corresponding project identified mutations in the PIGB gene as underlying a…

    Article with topic Metabolism, Neurology, WGS, WES, Mutation database
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