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Rare Neurodegenerative Diseases

III Interdisciplinary Congress on Human Genetics

From 3 to 5 November, the III Interdisciplinary Congress on Human Genetics was held in Valencia. Isabel Hinarejos presented an oral communication entitled "Investigating neurodegeneration associated with PLA2G6 (PLAN) using a new Purkinje model derived from stem cells". In addition, we presented two written communications with the titles: "Mutations, genes and phenotypes related to movement disorders: an endless list" and "Deciphering the disease mechanism of Charcot-Marie-Tooth neuropathy type 2Z (CMT2Z) caused by mutations in MORC2".


XII Scientific Meeting on Wilson's disease

On Saturday, October 22, the XII Scientific Conference on Wilson's Disease took place at the Gens Bomb Center. The researchers Carmen Espinós (CIPF, Valencia), Marina Berenguer (H. U. i P. La Fe, Valencia), Zoe Mariño (H. U. Clínic, Barcelona), Clara Cavero and Lucía Páramo (FISABIO, Valencia), Luis García- Villarreal (CH Universitario Insular - Materno Infantil, Gran Canaria) and Gloria González-Aseguinolaza (CIMA, Navarra) presented the latest advances in their lines of research focused on the investigation of genetic bases, characterization of biomarkers for diagnosis / prognosis, development of new therapies, clinical treatments, and epidemiology of Wilson's disease. And all this, in a privileged location, the Art Center Bombas Gens in Valencia.



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!