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Rare Neurodegenerative Diseases

Annual Conference of the Society of Neurology

The 76th Annual Meeting of the Spanish Society of Neurology (RASEN) is taking place these days at the Palau de Congressos in Valencia. Edna Ripollés, a predoctoral researcher in the group, presented an oral communication entitled "Potential biomarkers in the intestinal microbiota of patients with Wilson's disease". This study included in her thesis has revealed bacterial taxa whose growth is altered compared to controls. Specifically, a probiotic shows a growth influenced by the availability of copper, which is especially interesting in patients with Wilson's disease who have defective ATP7B, a copper transporter.

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15th Scientific Conference on Wilson's Disease

On October 19 and 20, 2024, the 15th Scientific on Wilson's Disease was held at the Bombas Gens Museum. This year, the talks focused on citizen science around rare diseases, neurorehabilitation for movement disorders, resources and social benefits for people with functional diversity, the immune system in Wilson's disease, microbiota in patients with Wilson's disease, and advances in gene therapy. In addition, during the afternoon, a colloquium was held between doctors, researchers, patients and family members to resolve doubts and report news about Wilson's disease.

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European Society Human Genetics 2024

We have recently presented a written communication to the European Congress of Human Genetics held in Berlin from June 1 to 4. This was about the characterization of a microRNA signature for the differential diagnosis of different forms of epilepsy in pediatric age.

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International Meeting on Wilson's Disease

 

The international symposium on Wilson's disease organized by the University of Aarhus (Denmark) was held from May 2 to 4. Experts in the disease from all areas have participated in it: neurologists, hepatologists, psychiatrists, cell biologists and geneticists, in addition to patient associations. In this edition, our lab has participated with the written communication entitled "Potential gut microbiota-associated biomarkers in Wilson disease". In the picture, Edna and Carmen with two extraordinary patients, Aída and Faustino, who belong to the Spanish association of Wilson's disease. 

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Defense of the dissertation by Isabel Hinarejos

On March 7, 2024, Isabel Hinarejos, researcher at the Rare Neurodegenerative Diseases Unit, defended her doctoral thesis entitled: “Molecular bases and biomarkers of neurodegenerative diseases with cerebral iron accumulation”. Isabel presented and defended the work brilliantly and received the grade of Excellent. A memorable day for her and the group. Congratulations!!

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