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!!!
The team led by Dr. Espinós has presented several communications at the annual conference of the Spanish Society of Neurology, held in Seville (19.23, November). One of them focused on the gene panel for diagnosis of ataxias and spastic paraplegia funded by crowdfunding at the Indacea platform. This genetic tool has allowed the diagnosis of 8 out of 36 patients studied. This research has been also funded by the Foundation Per Amor a l'Art (FPAA) and the Carlos III Health Institute (ISCIII - PI18-00147).