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Rare Neurodegenerative Diseases

International Meeting on Hereditary Metabolic Diseases

On December 16-17, the International Conference on Inherited Metabolic Diseases was held at the Faculty of Medicine and Pharmacy of Marrakech, organized by Dr. Naïma Fdil, who kindly invited Dr. Carmen Espinós whose talk was on the use of microRNAs as diagnostic/prognostic biomarkers of Wilson's disease. Researchers and clinicians with long experience in the clinical and genetic diagnosis of hereditary metabolic diseases participated in the workshops.



XIII Scientific and Coexistence Conference on Wilson disease

On Saturday, November 12th, the XIII Scientific and Coexistence Conference on Wilson disease took place at the Bombas Gens Center. The researchers Ana Sánchez-Monteagudo (CIPF, Valencia), Marina Berenguer (H. U. i P. La Fe, Valencia), Zoe Mariño (H. U. Clínic, Barcelona), Luis García- Villarreal (CH Universitario Insular - Materno Infantil, Gran Canaria) and Gloria González-Aseguinolaza (CIMA, Navarra) presented the latest advances in their research lines focused on the investigation of genetic bases, characterization of biomarkers for diagnosis / prognosis, development of new therapies, and clinical treatments. Also we had the opportunity of knowing the Wilson Disease Policy Network presented by Clara Cavero (FISABIO, Valencia) and Rocío Mellado (AEFE Wilson Disease Association). And all this, in a privileged location, the Art Center Bombas Gens in Valencia. A great day for patients, relatives and researchers/physicians :-)





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 :-)


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.





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!!!