Rare Neurodegenerative Diseases

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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III National Congress of Young Researchers in Biomedicine

The PhD students belonging to the Laboratory of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders have presented their last findings in the III National Congress of Young Researchers in Biomedicine held at CIPF. This conference is organized by PhD students for mainly, PhD students. Paula Sancho and Lola Martínez-Rubio presented written communications focused on pathophysiology of MORC2 (CMT2Z) and genetics of NBIA, respectively. The presentation of Ana Sánchez-Monteagudo entitled “Clinical and molecular characterization of Wilson’s disease and related liver disorders”, was selected for oral communication.

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Spanish Conference on Human Genetics

Last week the Conference on Human Genetics was held in Madrid, organized by the Spanish association of human genetics (AEGH). The Dr. Espinos' team presented two communications entitled: "Clinical aspects and genetics of the Wilson's disease and related liver disorders", and "New genes associated with disorders with neurodegeneration with brain iron accumulation (NBIA)".

 

 

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