FUNDACIÓN NOTICIAS »Retinitis Pigmentosa

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FUNDACIÓN NOTICIAS »Retinitis Pigmentosa

ARVO Reseña de la investigación de la Junta de Asesoría Científica de la Fundación
13 de junio 2014 – Se celebra cada año en mayo, la reunión de la Asociación para la Investigación en Visión y Oftalmología (ARVO) es uno de los mayores encuentros del mundo de los investigadores de los ojos. Destacados científicos de la retina y los investigadores clínicos, incluidos varios miembros del Consejo Científico Asesor de la Fundación (SAB), al que asistieron el evento de este año para presentar y discutir los últimos avances de la investigación para la comprensión de las enfermedades degenerativas de la retina y el desarrollo de tratamientos para salvar la vista y curas.

Después de la reunión, la Fundación entrevistó a su SAB para ver qué proyectos despertaron intereses de los miembros más. Aquí está una revisión de algunos de sus aspectos más destacados seleccionados:

Los avances en la técnica quirúrgica para la Terapia Génica Choroideremia
En enero pasado, Robert MacLaren, MD, informó impresionantes mejoras de la vista para el ensayo clínico de terapia génica coroideremia en marcha en la Universidad de Oxford en el Reino Unido. ARVO le brindó la oportunidad de discutir su técnica quirúrgica innovadora, que utiliza una bomba de pie para administrar cuidadosamente la terapia debajo, la retina en degeneración frágiles. Él administra la terapia, contenida en una pequeña gota de líquido, justo debajo de la mácula, el área central de la retina más crítica para la visión, sin causar ningún destacamento permanente o daños. Cirujanos de retina que participan en los ensayos clínicos actuales y futura de terapia génica se beneficiarán enormemente de lo que ha aprendido y demostrado.

La terapia génica se desempeña bien en la etapa XLRP Modelo Temprano y Tardío
La investigación anterior realizada por Gus Aguirre, VMD, Ph.D., y William Beltrán, VMD, Ph.D., de la Universidad de Pennsylvania, mostró que la terapia génica impidió la pérdida de visión en las primeras etapas ligada al cromosoma X retinitis pigmentosa (XLRP) modelos caninos. Nuevos estudios han demostrado que el tratamiento se detuvo la degeneración, preservar la función de la retina, en la enfermedad a mediados y finales de etapas también. Estos resultados ofrecen esperanza de que un futuro la terapia génica se beneficiará a la mayoría de las personas con XLRP. Los Dres. Aguirre Beltrán y son financiados por la Fundación para su XLRP investigación en terapia génica. Applied Genetic Technologies Corporation está planeando lanzar un ensayo clínico de una terapia génica XLRP.

Enfoque prometedor para el tratamiento de Emerge RP dominante
Enfermedades de la retina autosómicos dominantes, incluyendo retinitis pigmentosa autosómica dominante (adRP), son causadas por un defecto en una de las dos copias de un gen específico. Es decir, una copia es normal, y el otro está expresando una proteína tóxica. Investigadores de la Universidad de California, San Francisco, están desarrollando un tratamiento que se llama un oligonucleótido antisentido, que es una pequeña cadena de ADN que apaga las comunicaciones de la mala copia, por lo que no pueden expresar la proteína dañina. Los investigadores creen que la copia normal del RHO producirá suficiente proteína para proporcionar una visión normal. La terapia está siendo desarrollado para las personas con adRP causadas por mutaciones en P23H RHO. En estudios con ratones, la terapia redujo la pérdida de fotorreceptores y mejoró la sensibilidad retiniana.

La óptica adaptativa como un Futuro Clinical Trial Punto final
Desarrollado para minimizar la distorsión atmosférica al usar telescopios para estudiar el cosmos, la óptica adaptativa se está convirtiendo en una poderosa técnica para obtener imágenes detalladas, incluyendo el vídeo, de la retina humana hasta el nivel de los fotorreceptores individuales y sus segmentos internos y externos. En un estudio de personas con la enfermedad de Stargardt, Michel Michaelides, MD, un científico financiado por la Fundación de la Universidad College de Londres, fue capaz de identificar la pérdida progresiva de los fotorreceptores en intervalos de tres meses en un paciente de 7 años de edad – un logro que no habría sido posible utilizando equipos de imágenes tradicional. Su objetivo es desarrollar óptica adaptativa de modo que se puede utilizar para medir con rapidez y precisión la eficacia del tratamiento en los estudios humanos de terapias potenciales.

Más de 40 pluripotentes inducidas Proyectos Stem Cell presentados
Fue hace sólo siete años que los investigadores descubrieron que podían reprogramar una muestra de piel o de sangre para convertirse en células madre – células que podrían ser inducidas a convertirse en casi cualquier tipo de célula en el cuerpo, incluyendo la retina del tallo. Conocidas como células madre pluripotentes inducidas, o IPSC, pueden ser utilizados para desarrollar modelos humanos de la enfermedad, como una plataforma de tratamiento-pruebas y como terapias para la sustitución de los fotorreceptores perdidos y otras células en la retina. Este año, los investigadores presentaron los resultados de más de 40 proyectos de IPSC, incluidos los de coroideremia, retinitis pigmentosa (gen MAK), la degeneración macular relacionada con la edad y la enfermedad de Batten, una enfermedad pediátrica fatal que también causa ceguera.

Para más 2.014 puntos culminantes ARVO, echa un vistazo a los siguientes mensajes de ojos de la Fundación en el blog Cure:

Terapia génica LCA destinatario Destacado Durante Keynote
Rompiendo la barrera de 50 por ciento en las exitosas Screenings genéticos
Tres prometedor CEP290 Gene Therapy Alternativas
La colaboración europea en desarrollo transversal, Vision-Saving Terapias

RECIENTES ARTÍCULOS Retinitis Pigmentosa
Fundación invierte $ 1.5 Millones para encontrar los genes RP Elusive
FFB-HHMI Becas Promover Retinal Carreras de Investigación para Estudiantes de Medicina
Empresas Colaborar para el Avance de la Terapia Génica RP dominante
Second Sight Informes Planes futuros para Bionic retinas

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