La asociación ‘Por la sonrisa de Elenita’ dona 15.000 euros a la investigación sobre la enfermedad rara NEDAMSS que se desarrolla en GENyO

The association ‘Por la sonrisa de Elenita’ is donating 15,000 euros to the study of a neurodevelopmental disorder resulting from the genetic mutation IRF2BPL that affects only 9 people in Spain. Genyo researcher Thomas Widmann is working on the understanding of this disease and the search for therapeutic targets.

Paediatric monogenic neurodegenerative neurodegenerative diseases affect approximately 1% of newborns worldwide, causing significant health threats and a heavy health care burden. The Andalusian public health system is making significant efforts to promote knowledge and research into these pathologies, many of which are classified as ‘rare diseases’ due to their low prevalence. The impetus provided by patient associations is an essential factor in the advancement of the study of these diseases, which are very complex in nature.

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