Rare Neurodegenerative Diseases

Rare Disease Day 2020

The Alliance for Translational Research on Rare Diseases of the Valencian Community (AITER) has celebrated this year the world day of rare diseases in Castelló with the participation of patients and researchers. Ana Sánchez-Monteagudo gave a talk about the clinical and molecular characterization of Wilson's disease and related liver diseases.

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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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Annual Conference of the Spanish Society of Neurology - 2019

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).

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New York Stem Cell Foundation Conference

Candela presented at the New York Stem Cell Foundation Conference (New York, October 22-23, 2019) the cell models of PLAN (PLA2G6-associated neurodegeneration) and ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) in which she works on her thesis. In both cases, the aim is to generate new cellular models derived from hiPSCs of patients with these severe neurodegenerative disorders that faithfully replicate the pathophysiology of the disease so that it is useful for drug screening.

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Latest findings on Wilson's disease research

Ana Sánchez-Monteagudo, PhD student, presented her last findings on the research focused on Wilson's disease (WD) at the VI Bioinformatics Student Symposium held in Madrid (October 17th, 2019). The clinical series comprised 26 index cases and 22 carried biallelic mutations in ATP7B. However, in two affected siblings, mutations were detected in CCDC115 and therefore, they suffered from a congenital defect of glycosylation. Two unrelated patients remain without genetic diagnosis. Moreover, a miRNA-seq profiling was performed in plasma samples of 20 WD patients and matched healthy controls. Differential expression analysis revealed 12 deregulated miRNAs whose target genes participate in pathways related to toxicity and response to liver injury.

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