Rare Neurodegenerative Diseases

A new project

Today, June 23-2021, it is a special day. We have to say "see you soon" to Victoria after one year in our lab. We hope you have learned and enjoyed your stay!! And also, we have to congratulate ourselves because our lab has been awarded with a new project funded by the Instituto de Salud Carlos III (ISCIII) for the next three years. In the project, entitled "Clinical studies, genetic basis and prognosis biomarkers in rare neurodegenerative diseases", also takes part many clinicians, colleagues and friends. What a great team!!!

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Dr. Sánchez-Monteagudo

May 28, 2021. Ana Sánchez-Monteagudo has defended her PhD thesis focused on the genetics and biomarkers of the Wilson's disease, funded by the Fundació Per Amor a l'Art (FPAA). Congratulations Dr. Sánchez-Monteagudo :-)

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XXVI Conference - ALEH, 2021

From April 21 to 24, the XXVI Congress of the Latin American Association for the Study of the Liver is held online. An event that brings together experts in liver diseases from around the world. Dr. Carmen Espinós presented the algorithm that is applied in her laboratory for the genetic study of patients with Wilson's disease. In the same session, Dr. Javier Brahm participated showing how to approach the diagnosis of patients with hyperferritinemia, and Dr. Aurélia Poujois, an expert neurologist in the diagnosis and treatment of Wilson's disease. A very interesting session moderated by Dr. Marina Berenguer and Dr. Aldo Torre.2021abr_ALEH.jpg

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International Rare Diseases Day 2021

The Alliance of Translational Research on Rare Diseases of the Valencian Community (AITER) celebrates this year the international day of rare diseases with a virtual event organized by INCLIVA with the participation of patients and researchers. Candela Machuca will give a talk on the use of a human cell model (CPC; Cerebellar Purkinje Cell) generated for the study of the pathophysiology and search for therapies of a rare disease, PLAN (PLA2G6-associated neurodegeneration), the second most frequent form of NBIA (Neurodegeneration with Brain Iron Accumulation).

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Rare Disease Day 2020

The Alliance for Translational Research on Rare Diseases of the Valencian Community (AITER) has celebrated this year the world day of rare diseases in Castelló with the participation of patients and researchers. Ana Sánchez-Monteagudo gave a talk about the clinical and molecular characterization of Wilson's disease and related liver diseases.

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