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

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).

Meeting for families and researchers about neurodegeneration with brain iron accumulation disorders, that will be hold at the Hospital Sant Joan de Déu (Barcelona, Spain) in November 13-14, 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.