Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

Science Week in Quart

One more year, and this is the 6th edition, the association Quart es Ciencia (Quart is Science) has celebrated the Science Week in Quart de Poblet (Valencia, Spain). The current president of the association is Dr. Carmen Espinós. Many activities have been carried out: Cinema Forum, workshops for children, exhibitions, and other. The speeches have been focused on current issues such as alcoholism in teenagers by Dr. Consuelo Guerri, breast cancer by Dr, Ana Lluch, energy systems models by Dr. Avelino Corma, and healthy food by Dr. José Vicente Gil. An honour to have all these researchers during the Science Week in Quart!!!

 

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Funds obtained for the project on ataxias and paraplegias

About a year ago we started a crowdfunding campaign in collaboration with the association for the funding of medical research, INDACEA: http://indacea.org/, and we have achieved it!!!! This project aims to generate a tool for genetic diagnosis of patients with hereditary ataxia or familial spastic paraplegias. Many thanks to all the people who have helped us get the funding to start this study!!! J

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Master Students and Graduate Students

The students Isabel Hinarejos, Antonio Collado and Sandra Fernández have carried out the experimental research corresponding to their final degree or master’s degree dissertation. They have obtained excellent qualifications. Isabel’s final degree work entitled “Genetic diagnosis of peripheral neuropathies and research focused on pathogenicity of a mutation using a model organism” achieved a score of 10.0 with honors (Matrícula de Honor). Antonio, who also defended his final degree dissertation with the project entitled “Characterization of the molecular bases of the Charcot-Marie-Tooth neuropathy by exome sequencing – analysis of the pathogenicity”, obtained a score of 9.0 out of 10.0. Finally, Sandra presented her master’s degree dissertation entitled “Molecular bases of the neurodegeneration with brain iron accumulation disorders” and achieved a score of 9.5 out of 10.0. Congratulations!!!

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2017 Peripheral Nerve Society Annual Meeting

Members of the research team led by Dr. Carmen Espinós have attended to the annual meeting of the Peripheral Nerve Society held in Sitges (Barcelona, Spain, July 8-12, 2017). They have presented several written communications related to open research lines focused on the characterization of the MORC2 function and on the genetics related to Charcot-Marie-Tooth disease and related neuropathies.

 

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European Human Genetics Conference 2017

PhD students belonging to Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative disorders have attended to the conference of the European Society of Human Genetics held in Copenhage  (May 27-30, 2017). They have presented several written communications related to the open research lines in the research team focused on molecular bases of Neurodegeneration Brain Iron Accumulation (NBIA) disorders, Wilson disease and Charcot-Marie-Tooth disease and related neuropathies. 

 

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