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Rare Neurodegenerative Diseases

6th International Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR) Meeting

Researchers belonging to the group led by Carmen Espinós presented at the 6th International Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR) Meeting the communications entitled: "Novel AIFM1 mutation causes an early childholld-onset polyneuropathy with exclusive motor involvement" (Vincenzo Lupo) and "Mutations in MORC2 gene cause axonal CHarcot-Marie-Tooth disease" (Paula Sancho).

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2nd National Conference on Rare Diseases

The ADIBI association organized the 2nd National Congress on Rare Diseases in Ibi (2-3 June 2016). During these two days experts  who work with patients affected by rare diseases presented their own experiences. One of the speeches was focused on the research on Wilson disease that is in progress at the Centro de Investigación Príncipe Felipe led by Carmen Espinós. Susana Lloret (Fundación Per Amor a l'Art) and Clara Cavero (FISABIO) also participated in this speech. 

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Indacea: a crowdfunding platform

Indacea is a crowdfunding platform (http://indacea.org/). On May 28th, Indacea organized a solidarity market with the aim to obtain funds for research on biomedicine. Many researchers from the Príncipe Felipe Research Centre (CIPF) took part in this excellent initiative. The Director of Research in the Department of Healthy at the Valencian Government, Oscar Zurriaga, also came to the market to support this event. 

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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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