Rare Neurodegenerative Diseases

European Meeting of Human Genetics

Lola Martínez-Rubio presented at the meeting of the European Society of Human Genetics held this August the communication entitled: "Mutations, genes and phenotypes related to movement disorders: an endless list". This work collects the study of years in which many clinicians have collaborated. The investigated cohort comprises 124 patients studied using different genetic strategies: Sanger sequencing, gene panel (MovDisord-498), and exome sequencing. The diagnostic success rate achieved has been 46.87%. 

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CIPF Seminars: Wilson’s disease & NBIA-PLAN

Friday, July 16 - 2021. The CIPF seminars of predoctoral and postdoctoral researchers have been given by components of the unit of Rare Neurodegenerative Diseases. The first one by Ana Sánchez was focused on the characterization of useful biomarkers for the diagnosis of Wilson's disease based on the profile of microRNAs. The second seminar by Candela Machuca was about the generation of the human cell model based on iPSCs for PLAN (PLA2G6-associated neurodegeneration), which is the second most frequent NBIA (Neurodegeneration with Brain Iron Accumulation) form. Congratulations Ana & Candela!

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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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