Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

CIB-2016 Medical Research Meeting

The IV Medical Research Meeting (Congreso de Investigación Médica, CIB) has been held at the Faculty of Medicine. Dr. Carmen Espinós took part of the board about Rare Diseases together with Dr. Ibo Galindo (CIPF-UPV)  and Almudena Amaya (FEDER), being the chairman the dean ofthe faculty Prof. FedericoV. Pallardó.

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Research on the Wilson Disease

Today Enrique Alborch, Director of the Principe Felipe Research Centre (CIPF), and Susana Lloret, vice chair of the Per Amor a l’Art Foundation (FPAA), have signed a collaborative agreement for the research project entitled: “Enhancing diagnosis and prognosis of the Wilson Disease”, led by Dr. Carmen Espinós. This investigation about the Wilson Disease focused on the molecular diagnosis, identification of genetic modifiers, and characterization of biomarkers for prognosis begins with this agreement. 

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New article about a new tool for molecular diagnosis of Charcot-Marie-Tooth and Hereditary Motor Neuropathy

The group led by Dr. Carmen Espinós has recently reported a new paper entitled: “Assessment of targeted next-generation sequencing as a tool for the diagnosis of Charcot-Marie-Tooth disease and Hereditary Motor Neuropathy” in the Journal of Molecular Diagnosis. This article describes a new tool for molecular diagnosis: a panel with 56 genes involved in Charcot-Marie-Tooth disease and Hereditary Motor Neuropathy. This panel allows us to perform a very rapid and cost-effective screening of genes involved in these two groups of neuropathies. +info: http://dx.doi.org/10.1016/j.jmoldx.2015.10.005

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II Biomedicine Conference for Predocs

Ana Sánchez-Monteagudo, Paula Sancho and Cristina Tello have presented written communications in the II Biomedicine Conference for Predoc Students at CIPF (26-27, november). The titles of the posters have been: "Whole-exome sequencing data analysis for diagnosis of peripheral neuropathies" (Ana), "Mutations in MORC2 gene cause axonal Charcot-Marie-Tooth disease" (Paula), and "Neurodegeneration with iron accumulation in brain (NBIA): Clinical assessment and genetic characterization by a means of a Spanish multi-center research network" (Cristina).

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