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Rare Neurodegenerative Diseases

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!

 

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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!

 

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New grants awarded

The Rare Neurodegenerative Diseases laboratory must celebrate the grants from the Generalitat Valenciana for the celebration of an international meeting on Wilson's disease (CIAORG/2022/133); carrying out a research project on new biomarkers and treatments in epilepsy (CIAICO/2022/204); and the hiring of a laboratory technician (INVEST/2023/142). Tots a una veu!

 

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Neurons from fibroblasts

Isabel Hinarejos, a pre-doctoral student in the lab of Rare Neurodegenerative Diseases, is doing a stay in the laboratory of Professor Magdalena Götz (Ludwig-Maximilians-Universität München). The objective is to learn the protocol to derive fibroblasts to neurons directly. In this way, we will have a rapid model for the study of disease mechanisms and, above all, to investigate whether or not a mutation is pathological using a neuronal human cell model. The picture shows the first neurons obtained. Congratulations Isabel!!

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International Conference on Human Genetics

On February 22-26, the International Conference on Human Genetics was held In Cape Town. Dr. Carmen Espinós presented a poster focused on the use of microRNAs as diagnostic/prognostic biomarkers of Wilson's disease. A very interesting congress with leading research groups from all over the world.

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