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Rare Neurodegenerative Diseases

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.


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. 


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!!


VIII Conference of Female Researchers in Rare Diseases

Recently, on February 12th, we have celebrated the Conference of Female Researchers in Rare Diseases, eighth edition. In front of an audience of more than two hundred people, patient associations and researchers have presented their work. This year the following have participated: Bàrbara Congost, Andrea del Valle, María Miranda, Susana Navarro, Giovanna Tejada, María José Rangel, Edna Ripollés, Herminia Argente, and Judit García-Villoria. Speeches were focused on Huntington disease, retinitis pigmentosa, anaemias, spastic paraplegia, Wilson’s disease, peripheral neuropathies and rare metabolic diseases. A great day! Thanks to the speakers for their participation and to the large audience for coming once again to the Príncipe Felipe Research Center. We will continue working to better understand rare diseases!



International Wilson Meeting in Valencia

On November 25th, we celebrated an international meeting on Wilson disease in Valencia at the Centre d’Art Bombas Gens, with the support of the Generalitat Valencia (CIAORG/2022/133). The event was organised by the Fundació Per Amor a l’Art, the Spanish association of patients of Wilson’s disease (AEFE-Wilson), and the Valencia Biomedical Research Centre – Centro de Investigación Príncipe Felipe (CIPF). We had the opportunity to learn from experts on Wilson’s disease who work in clinical and basic research: Marina Berenguer (Hospital Universitari i Politècnic La Fe, Valencia); Eduardo Couchonnal (Centre de Référence Maladies Rares de la Maladie de Wilson, Lyon); Mickaël A. Obadia (National Reference Center for Wilson's Disease and Other Copper-Related Rare Diseases, Paris); Zoe Mariño (Hospital Clínic, Barcelona); Peter Ott (Aarhus University Hospital, Aarhus); Clara Cavero (FISABIO, Valencia); Antonio Tugores (CHUIMI de Las Palmas de Gran Canaria), Luis García-Villarreal (IUIBS, Universidad Las Palmas de Gran Canaria); Carmen Espinós (CIPF & CIBERER, Valencia); Hans Zischka (Technical University Munich); Gloria González-Aseguinolaza (CIMA, Universidad de Navarra, Pamplona). Just a great day with patients and relatives and researchers!