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Rare Neurodegenerative Diseases

New project on Wilson disease in collaboration with the FPAA

Yesterday, February 15, the Research Center Principe Felipe (CIPF) and the Fundació Per Amor a l'Art (FPAA) signed a new collaboration project for the next three years (2023-25). This is entitled "Improving the diagnosis and prognosis of patients with Wilson's disease" and is led by Dr. Carmen Espinós. This new initiative has the following objectives: (1) To genetically characterize patients with Wilson disease and discover genes involved in the Wilson-like phenotype; (2) To investigate whether lamin may act as a genetic modifier of ATP7B and therefore be responsible for neurological signs in a patient affected by Wilson disease; (3) To validate the identified miRNA signature that correlates with biochemical parameters associated with liver damage and therefore acts as a useful biomarker for its prognosis and assessment of new drug treatment. Let's start working now!!



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.