Rare Neurodegenerative Diseases

VI Female Researchers Conference on Rare Diseases

The CIPF has organized the 6th conference of female researchers on rare diseases (February 25, 2022), promoted by Carmen Espinós. We have learned about genetics of rare movement disorders (Raquel Baviera, Hospital Universitari i Politècnic de València); gene therapy for retinitis pigmentosa (Clara Monferrer, Consorcio Hospital General Universitario de Valencia); preclinical trials for the Lafora epilepsy (Belén Mollá, Instituto de Biomedicina de Valencia, CSIC); and new human cell models for a ultrarare disease, PLA2G6-associated neurodegeneration (Candela Machuca, Centro de Investigación Príncipe Felipe de Valencia). The meeting also had the participation of Marina Martín, president of the patients association ALUDME against the dystonia, and of Faustino Giménez, president of the patients association of patients and relatives with Wilson disease. Thanks to all of them for their selfless help!!!

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