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Rare Neurodegenerative Diseases

VI Female Researchers Conference on Rare Diseases

The CIPF has organized the 6th conference of female researchers on rare diseases (February 25, 2022), promoted by Carmen Espinós. We have learned about genetics of rare movement disorders (Raquel Baviera, Hospital Universitari i Politècnic de València); gene therapy for retinitis pigmentosa (Clara Monferrer, Consorcio Hospital General Universitario de Valencia); preclinical trials for the Lafora epilepsy (Belén Mollá, Instituto de Biomedicina de Valencia, CSIC); and new human cell models for a ultrarare disease, PLA2G6-associated neurodegeneration (Candela Machuca, Centro de Investigación Príncipe Felipe de Valencia). The meeting also had the participation of Marina Martín, president of the patients association ALUDME against the dystonia, and of Faustino Giménez, president of the patients association of patients and relatives with Wilson disease. Thanks to all of them for their selfless help!!!


February, 11th: International Day of Women and Girls in Science

The International Day of Women and Girls in Science is on February 11th. It is a day that was born above all, with the purpose of making visible the work, that is often silenced, carried out by women scientists. It is essential to disseminate the important role that women play in science, so that our girls and adolescents have female references and we put an end to the existing glass ceiling. Radio Televisión Española visited our lab and we told our impressions about the inequality of opportunities existing between women and men in science. SCIENCE NOT SILENCED.


Inaugural International Scientific Conference on INAD

During November 10-11, the inaugural international scientific conference on infantile neuroaxonal dystrophy (INAD, Infantil Neuroaxonal Dystrophy) and other types of neurodegenerative diseases associated with PLA2G6 (PLAN; PLA2G6-Associated Neurodegeneration) was held. We presented a written communication defended by Candela Machuca with the title: "Modeling PLAN using neurons derived from human induced pluripotent cells". Candela described the CPC (Cerebelum Purkinje Cell) model and its characterization. The preliminary findings show that in the disease mechanism underlying PLAN, different pathways are altered: iron metabolism, ferroptosis, apoptosis, endoplasmic resticle stress, and autophagy.


III Interdisciplinary Congress on Human Genetics

From 3 to 5 November, the III Interdisciplinary Congress on Human Genetics was held in Valencia. Isabel Hinarejos presented an oral communication entitled "Investigating neurodegeneration associated with PLA2G6 (PLAN) using a new Purkinje model derived from stem cells". In addition, we presented two written communications with the titles: "Mutations, genes and phenotypes related to movement disorders: an endless list" and "Deciphering the disease mechanism of Charcot-Marie-Tooth neuropathy type 2Z (CMT2Z) caused by mutations in MORC2".


XII Scientific Meeting on Wilson's disease

On Saturday, October 22, the XII Scientific Conference on Wilson's Disease took place at the Gens Bomb Center. The researchers Carmen Espinós (CIPF, Valencia), Marina Berenguer (H. U. i P. La Fe, Valencia), Zoe Mariño (H. U. Clínic, Barcelona), Clara Cavero and Lucía Páramo (FISABIO, Valencia), Luis García- Villarreal (CH Universitario Insular - Materno Infantil, Gran Canaria) and Gloria González-Aseguinolaza (CIMA, Navarra) presented the latest advances in their lines of research focused on the investigation of genetic bases, characterization of biomarkers for diagnosis / prognosis, development of new therapies, clinical treatments, and epidemiology of Wilson's disease. And all this, in a privileged location, the Art Center Bombas Gens in Valencia.