Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

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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Research on Ataxias and Paraplegias

The team led by Carmen Espinós tries to get the funds to carry out a research on genetic diagnosis of ataxias and spastic paraplegias by crowfunding in collaboration with the Indacea Platform (http://indacea.org/). This weekend (19-21/May) Indacea organized a solidarity market with the aim to obtain funds for our project in Bunyol (Valencia). Help us to get it! Collaborate with us on this project! https://www.youtube.com/watch?v=gXRj520sd9I

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Spanish Meeting on Human Genetics

The annual meeting of the Spanish society of human genetics (AEGH, Asociación Española de Genética Humana) has been hold in Valencia (25-28 April, 2017). Vincenzo Lupo and Carmen Espinós has presented the last findings of the current research lines related to Wilson disease, neurodegeneration with brain iron accumulation (NBIA), and the Charcot-Marie-Tooth disease and related neuropathies. 

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II National Meeting of Women Researchers on Rare Diseases

The II National Meeting of Women Researchers on Rare Diseases has been hold in the Príncipe Felipe Research Centre (CIPF) on March 2th, organized by Carmen Espinós. The first session, "Therapy and Treatment for Rare Diseases" was chaired by M. Elena Mateo  (Orphanet & CIBERER) and the speakers were Carmen Aguado (CIPF & CIBERER), Beatriz Llamusí (Universitat de València & INCLIVA), Belén Pérez (Universidad Autónoma de Madrid & CIBERER), and Gloria González (Universidad de Navarra). The second session, Clinical and Genetic Diagnosis of Rare Diseases, was chaired by Susi Martínez (Alianza Española de Familias de Von Hippel-Lindau) and the speakers were  Mª Ángeles Requena (Hospital de Hellín), Belén Pérez-Dueñas (Hospital Sant Joan de Déu & CIBERER), and Elena Aller (Hospital U. i P. La Fe & CIBERER). Near 200 people attended this meeting for students, patients and citizens in general, and that has as main goal, to closer the science made by women researchers on rare diseases in our country. 

 

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BIOGRAU2 – Speech Series - Universitat de València

Dr. Carmen Espinós has participated in the speech series BIOGRAU2 organized by the Faculty of Biology – Universitat de València, hold in Valencia, 15th February. The talk title: Unravelling genes involved in rare diseases.

 

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