La ONCE y el Instituto de Investigación La Fe colaboran en un estudio sobre síndrome de Usher

  • Su objetivo es desarrollar la secuenciación masiva para el análisis genético del síndrome de Usher
  • Se trata de una enfermedad rara que afecta a unas 1.600 personas en España
  • La Fe es referencia en España para el diagnóstico y tratamiento del síndrome de Usher

La ONCE colabora en una investigación con el Instituto de Investigación Sanitaria la Fe, cuyo investigador principal es el doctor José María Millán Salvador. El trabajo, titulado Desarrollo y validación de una plataforma de secuenciación masiva para el análisis genético del síndrome de Usher se basa en generar una plataforma que permita el diagnóstico molecular de los pacientes de forma sencilla y rápida.

Este diagnóstico es ya una necesidad y las nuevas técnicas de ultrasecuenciación o secuenciación de nueva generación (NGS de sus siglas en inglés) se han mostrado muy útiles para la identificación de nuevos genes responsables de enfermedades, mediante la secuenciación de exomas, etc. Por tanto, el objetivo del estudio es la generación de una plataforma basada en NGS.

Este objetivo conlleva varios pasos y el primero de ellos consiste en la validación del diseño y funcionamiento de dicha plataforma comparando los resultados obtenidos mediante NGS con los previamente obtenidos por el grupo mediante secuenciación de Sanger, en un grupo de pacientes elegidos por tener identificadas mutaciones de distinta naturaleza y en distintos genes USH.

El síndrome de Usher es una patología genética y hereditaria que se asocia con sordera, retinosis pigmentaria (enfermedad de la retina que conduce a la ceguera) y en algunos casos fuertes alteraciones del equilibrio (disfunción vestibular).

Se trata de una enfermedad rara y heterogénea tanto clínica como genéticamente, que desde el punto de vista sanitario tiene un interés muy elevado, debido al alto grado de incomunicación social que representa para los pacientes. En la actualidad afecta a más de 1.600 personas en toda España.

La Fe, referencia nacional en Usher

El grupo de investigación Trasnacional en Enfermedades Neurosensoriales del Instituto de Investigación Sanitaria La Fe, es referencia en España para el diagnóstico y tratamiento del síndrome de Usher. Lleva trabajando en epidemiología y genética de las retinopatías hereditarias y síndrome de Usher desde 1991 y es uno de los pocos equipos en el mundo que se dedican a investigar esta enfermedad.

Este equipo participó en 2007 en un estudio junto con investigadores alemanes, que permitió descubrir un nuevo gen implicado en el síndrome de Usher (gen whirlin), describiendo así un nuevo subtipo de la enfermedad (USH2D). El hallazgo, publicado en la revista científica Human Genetics, aportó nuevos datos clave sobre esta patología.

Este grupo del Instituto de Investigación La Fe está compuesto por 18 investigadores, dirigidos por el Dr. José Mª. Millán, perteneciente a la Unidad de Genética del Hospital U. La Fe, y colabora con el Centro de Investigación Biomédica en Red de Enfermedades Raras (CiberER).

El objetivo de este grupo es profundizar en el conocimiento, la fisiología, la genética y la clínica de las enfermedades que afectan a los órganos de la visión y la audición.

El Instituto de Investigación Sanitaria La Fe

El Hospital Universitari i Politècnic La Fe ha sido un centro pionero en investigación desde su creación, ya que cuenta, desde 1973, con un Centro de Investigación asociado. En 2002 desarrolló su Plan Estratégico en Investigación y como consecuencia del mismo se puso en marcha la Fundación para la Investigación del Hospital La Fe que, gracias a un Acuerdo Marco suscrito con la Conselleria de Sanitat, se dota de soporte jurídico para impulsar la creación de instrumentos de gestión integral de la investigación y los recursos resultantes de la misma en el Departamento de Salud La Fe.

La sólida trayectoria en investigación de excelencia de la Fundación La Fe ha sido avalada por el Instituto de Salud Carlos III, dependiente del Ministerio de Economía y Competitividad, que le ha otorgado la acreditación como “Instituto de Investigación Sanitaria”, lo que supone el reconocimiento a la producción científica de vanguardia en el Hospital Universitari i Politècnic La Fe.

La ONCE y la investigación

La ONCE cumple su misión social a través de diversos proyectos que favorecen la autonomía personal, la plena inclusión social y la defensa de los derechos de sus afiliados, sin olvidar la igualdad de oportunidades, como ciudadanos de pleno derecho que son.

Para desarrollar sus objetivos, la ONCE se apoya en la prestación de múltiples servicios y en la puesta en marcha de diversas actividades, destacando su compromiso por impulsar la I+D+I en materia de ceguera y deficiencia visual, mediante su colaboración en proyectos de investigación relacionados con las patologías oftalmológicas que con más frecuencia son causa de ceguera total o parcial.

Con estas colaboraciones, la ONCE pretende estimular el conocimiento científico más avanzado e innovador sobre la ceguera y deficiencia visual, a fin de fomentar su prevención y el desarrollo de terapias efectivas.

A continuación se muestran tres imágenes:

1.- Equipo de investigación de La Fé, dirigido por el Dr. Millán.

2.- Dr. Millán en el laboratorio.

3.- Panorámica del hospital La Fe, Valencia.

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