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Rare Neurodegenerative Diseases

IX National Conference of Researchers in Rare Diseases

Last Monday, February 10, we celebrated the National Conference of Researchers in Rare Diseases, its ninth edition. With an audience of more than two hundred people, patient associations and researchers have presented their work. This year we had the participation of the association of patients with retinitis pigmentosa of the Valencian Community, represented by its president Almudena Amaya and its social worker Melani Navarro, in addition to the researchers Purificación Marín, Ana Victoria Marco, Lucía Páramo, Mª Carmen Martín, Mirja Hommel, and Cecilia Jiménez-Mallebrera. The talks focused on the social perspective of rare diseases and their diagnosis, and on therapeutic approaches to epileptic encephalopathies, neuromuscular diseases and Wilson's disease. A great day! Many thanks to the speakers for their collaboration and to the great audience for coming once again to the Príncipe Felipe Research Center. We will continue working to raise awareness about rare diseases.

 

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Women of the Year (WOTY) 2024 - Glamour

Glamour awarded Dr. Carmen Espinós with the recognition of Women of the Year 2024 in Science for her career in research into rare diseases. Other winners this year were: Carolina Marín, Sports Career; Karla Sofía Gascón, International Actress; Rigoberta Bandini, National Talent; Nicole Van der Velden, Game Changer; Amaral, Musical Career; Nicole Wallace, Actress of the Year; Lola Lolita, Content Creator of the Year; Ana Peleteiro, Athlete of the Year; Beth Ditto, International Talent; Arón Piper, Man of the Year. A very endearing, fun and vindictive gala. Congratulations to all these talented women!

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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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