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29/07/2020

Sant Pau researchers design a mass sequencing panel for undiagnosed patients with neuromuscular diseases

Thanks to the work coordinated by Dra. Maria Pía Gallano, director of the Genetic Diseases Research Group at the Sant Pau Research Institute, in which researchers from various centers also affiliated to CIBERER have participated, has designed a genetic panel of mass sequencing (NGS) with great power diagnosis for people affected by neuromuscular diseases such as myopathies, muscular dystrophies, and previously undiagnosed congenital myasthenic syndromes.
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With this NGS panel, they analyzed a cohort of 207 patients in Spain and detected the cause of the disease in 102, 49% of them, in 42 genes. Thus, this panel is constituted as a tool for the analysis of genes related to neuromuscular diseases that offers reliable results in a short period of time and relegates invasive techniques to later stages. The work has been published in the journal Genes.
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