CentoMD® offers a comprehensive summary of the clinical validity and causality of detected gene variants with their associated phenotypes, and is a valuable tool for identifying new disease genes through the correlation of novel genetic variants with specific, well-defined phenotypes from more than 115 represented countries.
Articles on Mutation Database
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A Novel Disorder of Nerve Cell Communication
Proper development and function of nerve cells relies on communication by so-called neurotransmitters. Mutations in the GAD1 gene, which is involved in neurotransmitter synthesis, have now been found to cause a multitude of severe neurological phenotypes.
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Epidemiology of a Rare Protein Aggregation Disorder
Some genetic disorders are caused by an accumulation of the mutated protein, with hereditary ATTR amyloidosis (hATTR) being a prime example. Therapeutic strategies that target these toxic aggregates are being tested in clinical trials. CENTOGENE’s active contributions to this field are demonstrated…
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Revealing Genetic Causes of Parkinson’s Disease
Certain variants in LRRK2 have been associated with Parkinson’s disease. While much is known about this association for some variants, knowledge is still sparse for others. In the frame of a CENTOGENE-led clinical study, two patients with the ultra-rare p.R1441C variant were identified and…
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A New Phenotype for a Known Neurological Disorder
Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also cause dystonia.
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Multiomics and Biomarkers in Rare Diseases Supporting Development and Commercialization of Orphan Drugs
Watch our webinar to learn about innovative methods to tackle the challenges of orphan drugs in early stage development, clinical trial enrollment, and market development.