Una nueva iniciativa secuenciará 10000 genomas enteros de personas con enfermedades genéticas raras

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El proyecto sentará bases para la medicina genómica.

Este proyecto traerá enormes mejoras en la atención de pacientes con enfermedades genéticas raras. Se acorta la brecha entre los primeros signos de mala salud en una persona y proporcionar un diagnóstico definitivo utilizando el poder de los métodos modernos de secuenciación de ADN

Dr. John Bradley, Director del Centro de Investigación Biomédica en Cambridge NIHR

La Universidad de Cambridge, Inglaterra y genómica Illumina, Inc. anunciarón hace unos días el inicio de un proyecto de tres años que se secuencirá todo el genoma de 10.000 niños y adultos con enfermedades genéticas raras. El proyecto  de Genómica Inglaterra, proporcionará 2.000 muestras, y marcará el comienzo de la iniciativa nacional para secuenciar genomas 100.000 en el Servicio Nacional de Salud del Reino Unido (NHS), ha anunciado recientemente por el primer ministro, David Cameron. 

«Este proyecto traerá enormes mejoras en la atención de pacientes con enfermedades genéticas raras. Se acorta la brecha entre los primeros signos de la mala salud de una persona y que proporcionan un diagnóstico definitivo utilizando el poder de los métodos de secuenciación de ADN modernos «, dijo el Dr. John Bradley, Director del Centro de Investigación Biomédica NIHR Cambridge, una asociación entre la Universidad de Cambridge y Hospitales de la Universidad de Cambridge.

Hoy en día, la mayoría de los pacientes con una enfermedad genética rara pasan por una odisea de diagnóstico para determinar la causa. Para muchos, la larga búsqueda se mantiene sin éxito, que no sólo impide la prestación de una atención óptima, pero también puede agravar la condición. Para mejorar la atención al paciente en el Servicio Nacional de Salud del Reino Unido (NHS), la Universidad de Cambridge trabajará con el equipo dirigido por el doctor David Bentley, Vicepresidente y Director Científico de Illumina, para desarrollar el flujo de trabajo y procesos para lograr la rutina clínica genoma entero secuenciación a la cama.

Illumina entregará toda la secuencia del genoma de datos para el proyecto utilizando la tecnología líder en el mercado inventado en Cambridge. «En 1997, la secuenciación completa del genoma de una persona en el marco de la asistencia sanitaria era sólo una idea y siempre ha sido mi esperanza de que algún día se convertiría en realidad y benefician a miles de pacientes», dijo Shankar Balasubramanian, profesor de química en la Universidad de Cambridge y el inventor de la secuenciación mediante la técnica de síntesis que se utiliza por los instrumentos de Illumina para leer el código de ADN.

«Estamos muy contentos de poder colaborar en este proyecto innovador para descubrir los genes que subyacen a las enfermedades genéticas raras, que pueden llevar a ofrecer nuevas pruebas y preparar el camino para nuevas oportunidades de tratamiento», dijo el profesor Mark Caulfield, director científico de Genómica de Inglaterra. 

Se estima que hay 7.000 enfermedades raras y alrededor de 3,5 millones de personas en el Reino Unido se verán afectados por una enfermedad rara en algún momento de su vida.

«Estoy seguro de que la investigación médica pionera por médicos, enfermeras y científicos de todo el Reino Unido recibirán un amplio apoyo de la comunidad de las enfermedades raras», dijo Alastair Kent de Enfermedades Raras Reino Unido.

Sarah-Jane Marsh, director ejecutivo de Children Hospital de Birmingham agregó: «Más del 5 por ciento de los bebés nacen con una enfermedad genética. Por el momento, también muchas de las familias afectadas no pueden acceder a los mejores diagnósticos y tratamientos disponibles.»

El Proyecto Genoma Enfermedades Raras ayudará a llenar este vacío, y hacer que el NHS en un líder mundial en el cuidado de las enfermedades raras. La acumulación de conocimientos que se pueden obtener de la recolección de estos datos va a mejorar el tratamiento para muchos pacientes en el SNS y en todo el mundo.

Artículo publicado bajo licencia Creative Commons Licence

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