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.
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.
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.
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!!
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!
