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Rare Neurodegenerative Diseases

Dr. Candela Machuca

October 17, 2022. Candela Machuca has defended her PhD thesis focused on the generation of a new humano model CPC (Cerebelum Purkinje Cell) for two rare disorders: PLAN (PLA2G6-associated neurododegeneration) and ARSACS (Autosomal recessive spastic ataxia of Charlevoix-Saguenay). The dissertation was supervised by Dr. Slaven Erceg and Dr. Carmen Espinós. Congratulations Dr. Machuca :-)

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Wilson Aarhus

The international symposium on Wilson's disease organized by the University of Aarhus (Denmark) was held from May 5 to 8. 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, the Wilson team from the Fundación Per Amor a l'Art participated with two presentations entitled "Wilson's disease in Gran Canaria" given by Antonio Tugores and "Profile of microRNAs in plasma associated with the diagnosis/prognosis of the disease of Wilson" given by Carmen Espinós.

 

 

 

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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!!!

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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.

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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.

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