Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

X Scientific meeting for patients with Wilson disease

This January 20th, we had the opportunity of sharing a meeting with patients who suffer the Wilson disease. Among the speakers, the Prof. Peter Terenci who probably investigates the largest clinical series and who is an international reference for the clinical research of this rare disease. A pleasure this opportunity offered by the Fundació Per Amor a l’Art to bring our different lines of research closer to patients. 

 

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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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