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Rare Neurodegenerative Diseases

Referent Awards ANASBABI

This past Saturday, October 2, 2021, in Chera (Valencia) the Referent Awards ceremony of the ANASBABI CILIOPATIAS association took place. These awards are intended to value the work of disseminating the needs of those affected by rare diseases and the work done to improve the treatment and clinical care they receive. Among the winners: Antonio G. Armas on radio; Luis de Haro in the press; "The Science of Health" on television; Gema Esteban Bueno in a research project; Àngels Garcia Cazorla in clinic; Cristina Olmo Paniagua as a therapist; Cheste (Valencia) in solidarity town hall; Noah Higón Bellver in dissemination; and Carmen Espinós as a researcher. Congratulations to everyone!



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%. 


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!


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!!!


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 :-)