Rare Neurodegenerative Diseases

Seminar by Petra Lassuthova at the CIPF

Dr. Petra Lassuthova from Faculty of Medicine - Charles University (Prague, Czech Republic), with whom we have just started to collaborate, presented a seminar at the CIPF entitled: "Lessons learned from diagnostic targeted next generation sequencing in inherited peripheral neuropathies". A lesson about pros and cons related to massive sequencing in molecular diagnosis. 

 

 

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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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