Rare Neurodegenerative Diseases

Rare Diseases Subject at the Faculty of Medicine

Members of the research team and of the Department of Genomics and Translational Genetics at CIPF have participated as teachers in the Rare Diseases subject at the Faculty of Medicine (Universitat de València). Students carried out some exercises focused on genetic studies and related to the analysis of sequences of genes involved in rare diseases.

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Defense of the doctoral thesis by Eduardo Calpena

On March 21th, Eduardo Calpena, researcher belonging to the Unit of Genetics and Genomics of Neuromuscular Disorders, defended his doctoral thesis entitled: Genetic and cellular bases of hereditary peripheral neuropathies. Edu presented and defended this work in an outstanding manner and he obtained the highest mark: Excellent Cum Laude. A great day for him, his family and friends, and for the research team. 

 

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Seminar by Roman Chrast at CIPF

Dr. Roman Chrast from Karolinska Institutet (Stockholm, Sweden), with whom we collaborate in different studies, presented a seminar at CIPF entitled "Cell autonomous and non-cell-autonomous mechanisms implicated in axonal maintenance". A pleasure knowing of his recent findings!

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Female Researchers Conference on Rare Diseases

CIPF organized the 1st conference of female researchers on rare diseases (March 2nd, 2016). The conference was opened by Oscar Zurriaga (Director Research, Innovation, Technology and Quality, Conselleria de Sanitat), Enrique Alborch (Director CIPF) and Carmen Espinós (Group leader CIPF). The speakers were Teresa Sevilla (H. U. i P. La Fe & CIBERER), Rosario Sánchez (H. General de Alicante), Almudena Amaya (FEDER), Clara Cavero (FISABIO), Susana Lloret (Fundació per amor a l'art), Susana Rodríguez-Navarro (CIPF), Mª Eugenia Armengod (CIPF & CIBERER), Dolores Moltó (Universitat de València & CIBERSAM), Pilar Codoñer (Universitat de València & H. U. Dr. Peset) and Carmen Espinós (CIPF)

 

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World Rare Disease Day at FISABIO

On World Rare Disease Day (February 29th) a conference was held entitled: "The rare diseases, a global vision for being visible" organized by FISABIO (Fundación para el Fomento de la Investiagción Sanitaria y Biomédica). In this conference, associations of patients, patients and researchers took part. Dr. Carmen Espinós gave a speech about: " Wilson disease and NBIA: Diseases with metal accumulation". 

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