Rare Neurodegenerative Diseases

Inaugural International Scientific Conference on INAD

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During November 10-11, the inaugural international scientific conference on infantile neuroaxonal dystrophy (INAD, Infantil Neuroaxonal Dystrophy) and other types of neurodegenerative diseases associated with PLA2G6 (PLAN; PLA2G6-Associated Neurodegeneration) was held. We presented a written communication defended by Candela Machuca with the title: "Modeling PLAN using neurons derived from human induced pluripotent cells". Candela described the CPC (Cerebelum Purkinje Cell) model and its characterization. The preliminary findings show that in the disease mechanism underlying PLAN, different pathways are altered: iron metabolism, ferroptosis, apoptosis, endoplasmic resticle stress, and autophagy.

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III Interdisciplinary Congress on Human Genetics

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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".

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XII Scientific Meeting on Wilson's disease

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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.

 

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Referent Awards ANASBABI

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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!

 

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European Meeting of Human Genetics

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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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