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
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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…
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De novo variants in TAOK1 cause neurodevelopmental disorders
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…
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A therapy with miglustat, 2-hydroxypropyl-beta-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1.
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…
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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
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…
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Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
The genetic knowledge around rare hereditary diseases is rapidly increasing. Patients having received a negative diagnostic report may thus gain from a re-analysis of their exomes or genomes. A recent CENTOGENE-initiated study provided impressive evidence for this hypothesis. In a set of patients…