Funcanis recibe una donación económica para fomentar la investigación de la enfermedad de Dent

Convenio investigación de la enfermedad de Dent.

El consejero de Sanidad firmó esta mañana el convenio con la Asociación de la Enfermedad de Dent por el que se hace una aportación para impulsar un estudio sobre esta patología en el Hospital Universitario Nuestra Señora de Candelaria.

El consejero de Sanidad del Gobierno de Canarias, José Manuel Baltar, firmó esta mañana con los responsables de la Asociación de la enfermedad de Dent (Asdent) Eva Giménez y David Muñoz el convenio mediante el cual la Fundación Canaria de Investigación Sanitaria (Funcanis) recibe una aportación económica de Asdent para fomentar la investigación científica de esta patología.

Con este acuerdo, Asdent destinará parte de los fondos conseguidos mediante campañas y acciones solidarias a financiar el proyecto Caracterización de mutaciones del gen CLCN5 que causan enfermedad de Dent y generación de un ratón knock-in, liderado por el investigador del Grupo de enfermedades renales hereditarias y alteraciones del mRNA de la Unidad de Investigación del Hospital Universitario Nuestra Señora de la Candelaria Félix Claverie.

Este trabajo de investigación busca determinar las consecuencias que tienen algunas mutaciones del gen CLCN5 causantes de la enfermedad de Dent y crear un modelo de la patología en ratones con el fin de diseñar una estrategia terapéutica.

Otra parte de los fondos de Asdent irán destinados al proyecto Cyclophilin B as putative modulador of CLC5 mutation effects in Dent’s disease de la jefa del Servicio de Nefrología pediátrica del Hospital Universitario Vall d’Hebron, Gema Ariceta, y la jefa del Grupo de Fisiopatología renal de este centro, Anna Meseguer.

Enfermedad de Dent

Descrita por primera vez C.E. Friedman en 1964, la enfermedad de Dent tiene origen genético, ligado al cromosoma X, y es una patología muy rara que afecta exclusivamente al riñón, produciendo pérdidas en la orina de sustancias como proteínas, calcio, fósforo, glucosa, y que puede llegar a dañarlo pudiendo causar la falla renal crónica.

Funcanis y Asdent

Funcanis tiene por finalidad promover y apoyar la investigación en el ámbito de las ciencias de la salud para contribuir a la prevención de la enfermedad, a la promoción y protección de la salud, al tratamiento y rehabilitación de la enfermedad y a elevar el grado de conocimiento sobre la salud de la población, así como gestionar la investigación del Servicio Canario de la Salud.

Por su parte, los objetivos de Asdent son difundir el conocimiento de la enfermedad de Dent, promover la investigación sobre dicha enfermedad, estimular el diagnóstico precoz de la misma en la infancia, investigar cómo cambiar la historia natural de esta patología y, así, evitar el fallo renal en el futuro y conseguir un medicamento para frenar las pérdidas de iones por la orina y evitar la progresión hacia la insuficiencia renal.

 

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