Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

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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Dr. Paula Sancho

Today, september 20th-2019, Paula Sancho has defended her PhD thesis. Of course, she was brilliant with her dissertation. Congratulations Dr. Sancho!!!

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European Human Genetics Conference - 2019

We have presented two posters at the European Human Genetics Conference held in Gothenburg, Sweden (June 15-18, 2019) related to the projects on the genetics of NBIA disorders, and the pathophysiology of CMT2Z. And since we were in Sweden, we had a meeting with Roman Chrast’s group at Karolinska Institutet in order to discuss the latest results of the on-going project on CMT2Z funded by the AFM Téléthon focused. 

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