Descripción del proyecto
Programa europeo de formación sobre enfermedades autosómicas dominantes de la retina
En Europa, unas trescientas cincuenta mil personas padecen enfermedades hereditarias de la retina (EHR), un grupo de dolencias que antes se consideraban incurables. Sin embargo, los últimos avances han dado lugar a nuevos tratamientos revolucionarios. Los principales obstáculos son los diagnósticos genéticos no resueltos, el desconocimiento de los mecanismos de la enfermedad y el desarrollo de la genoterapia para las EHR con herencia autosómica dominante, que constituyen el 25-40 % de todos los casos de EHR. El equipo del proyecto ProgRet, financiado por las MSCA, establecerá una red europea de formación centrada específicamente en los mecanismos, el diagnóstico y la terapia de las EHR. Los objetivos del proyecto abarcan el uso de células madre y modelos animales para investigar los mecanismos de las EHR con herencia autosómica dominante, la mejora del diagnóstico mediante un marco multiómico unimolecular y la creación de tratamientos innovadores basados en la terapia de ARN y la edición genómica de CRISPR.
Objetivo
ProgRET will create a multidisciplinary and intersectoral European training network focusing on the mechanisms, diagnosis and therapy of dominantly inherited retinal diseases (IRD). IRD represent a major cause of blindness, affecting 350,000 people in Europe. IRD have long been considered incurable, however major advances have led to groundbreaking new treatments. Today, the most important challenges in the IRD field relate to an unsolved genetic diagnosis, unknown disease mechanisms and gene therapy development for autosomal dominant IRD (adIRD), representing 25–40% of all IRD cases. We have demonstrated an emerging role for splicing factors, structural variants and non-coding defects in patients with adIRD, and developed novel disease models and gene therapies for adIRD. ProgRET aims to dissect adIRD mechanisms using retinal stem cell and aquatic animal models, to advance adIRD diagnostics using a single-molecule multi-omics framework, and to develop innovative treatments based on RNA therapy and CRISPR-genome editing. These challenges will be tackled by integrating unique expertise and cutting-edge technology within ProgRET, including (multi-)omics, bioinformatics, functional genomics, RNA biology, gene regulation, stem cell technology, retinal organoids, animal models, genome editing and gene therapy. ProgRET will give Doctoral Candidates (DCs) unparalleled training opportunities in outstanding academic and industrial settings through training-by-research via individual research projects, secondments, and network-wide training sessions. All individual training and research activities will provide each DC with the necessary skills in academic and industrial research. ProgRET will make a career in both sectors attractive and improve their career prospects. Finally, our multidisciplinary network offers a unique opportunity to accelerate the understanding, diagnostics and therapeutics for adIRD in Europe, and to translate research findings to healthcare and society.
Ámbito científico
- medical and health sciencesmedical biotechnologygenetic engineeringgene therapy
- medical and health sciencesclinical medicineophthalmology
- medical and health sciencesmedical biotechnologycells technologiesstem cells
- natural sciencesbiological sciencesgeneticsRNA
- natural sciencesbiological sciencesgeneticsgenomes
Palabras clave
Programa(s)
- HORIZON.1.2 - Marie Skłodowska-Curie Actions (MSCA) Main Programme
Régimen de financiación
HORIZON-TMA-MSCA-DN - HORIZON TMA MSCA Doctoral NetworksCoordinador
9000 Gent
Bélgica