Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

V Female Researchers Conference on Rare Diseases

The CIPF has organized the 5th conference of female researchers on rare diseases (February 21, 2020), promoted by Carmen Espinós. We have learned about genetics and genomics of rare diseases (Berta Fusté, Centro Nacional de Análisis Genómico, Barcelona); pathomechanism of Rett syndrome using a knock-out mouse (Carmen Agustín, Universitat de València); pediatric diseases of the respiratory system such as cystic fibrosis (Silvia Castillo, Hospital Clínic Universitari de València); clinical trial for spinal muscular atrophy (Inmaculada Pitarch, Hospital U. i P. La Fe, València); and multidisciplinary clinical teams for the care of patients with amyotrophic lateral sclerosis (Eva Fages, C. H. de Cartagena). Moreover, our chairwomen were Teresa Ferreros and Cuca Paulo of the patient associations of X fragile chromosome and STOP-FMF (Familial Mediterranean Fever). Finally, we also had the kind collaboration of Fide Mirón, vice-president of FEDER (Spanish Federation of Rare Diseases) to close the meeting. Thanks to all of them for their selfless help!!!

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