Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

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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European Society of Human Genetics. Glasgow, 6-9 June 2015

Carmen Espinós and Eduardo Calpena have attended to the conference of the European Society of Human Genetics held in Glasgow in June 6th-9th. They presented a written communication related to the research about Neurodegeneration Brain Iron Accumulation (NBIA) disorders and an oral presentation about the role of junctophilin-1 as genetic modifier of the GDAP1 gene. Eduardo Calpena was chosen as candidate for young investigator awards. 

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They study the characterization of a new gene involved in hereditary neuropathy clinical form of recurrent

Dr. Carmen Espinós, Miguel Servet CIBERER researcher at the Centro de Investigación Príncipe Felipe, is leading an investigation that has identified a likely pathological change in a gene involved in new clinical form of recurrent hereditary neuropathy. The work was presented at the XXVII Congress of the Spanish Society of Human Genetics (AEGH) by Eduardo Calpena predoctoral student, who was awarded a scholarship awarded to the best oral communications presented.

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