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.
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.