Francina Munell Casadesus Institucions de les que formen part Investigador/a principal Neurologia pediàtrica Vall Hebron Institut de Recerca Email Francina Munell Casadesus Email Institucions de les que formen part Investigador/a principal Neurologia pediàtrica Vall Hebron Institut de Recerca
Línies de recerca Pediatric Neuromuscular Disorders 1. DUCHENNE MUSCULAR DYSTROPHY (DMD) THERAPEUTIC POTENTIAL OF ESTROGENS IN DMD, EFFECTS AND MECHANISMS OF ACTION ON SATELLITE CELLS AND MACROPHAGES We have found that estradiol has beneficial effects on myogenesis and inflammation. We aim to characterize the estradiol effects on satellite cells and their interaction with macrophages and the ability of estrogens to increase the efficiency of cell therapy based on satellite cell transplant to restore the expression of dystrophin in the dystrophic muscle in vivo. IN VITRO TESTING OF GENE THERAPIES TO REPAIR DYSTROPHIN IN HUMAN MYOBLASTS AND DEVELOPMENT OF NANIOPARTICLES FOR MUSCLE DELIVERY Compounds with readthrough activity are currently used for DMD patients with nonsense mutations with highly variable results. We are testing the efficacy of several drugs with read-through action (PTC124, RTC14, RTC13, Geneticin) to restore protein levels in myoblasts and differentiated myotubes obtained from DMD patients carrying nonsense mutations with variable codon composition and different location. We are testing the possibility to use modified nanopaticles for muscle delivery of specific drugs. 2. USE OF NEW TECHNOLOGIES FOR DIAGNOSTIC OPTIMISATION IN INHERITED MYOPATHIES We used exome capture and massive sequencing technologies for the diagnosis of patients with neuromuscular disorders, to deliver a proof-of-concept of the superior diagnostic accuracy, speed and costeffectiveness of these novel technologies over current approaches. IP: Francina Munell Casadesus Projectes Distrofia muscular congénita tipo 1A: inhibición de la fibrosis y corrección mediante edición génica IP: Jordi Barquinero Mañez Col·laboradors: Laura Costa Comellas, Francina Munell Casadesus, Gómez Andrés, David, Rocío Piñera Moreno Entitat finançadora: Instituto de Salud Carlos III Finançament: 117370 Referència: PI22/01027 Durada: 01/01/2023 - 31/12/2025 Neurologia infantil IP: Alfons Macaya Ruíz Col·laboradors: Ventura i Expósito, Laia, Perez Dueñas, Belen, Laura Costa Comellas, Ainara Salazar Villacorta, Francina Munell Casadesus, Miquel Raspall Chaure, Mireia del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Cazurro Gutierrez, Ana Laura, Gómez Andrés, David, Amaia Lasa Aranzasti, Lucy Dougherty de Miguel Entitat finançadora: Agència Gestió Ajuts Universitaris i de Recerca Finançament: 0.01 Referència: 2021 SGR 01171 Durada: 01/01/2022 - 30/06/2025 Desarrollo de una nueva estrategia de terapia génica y adecuación de una cohorte de pacientes para ensayos clínicos en distrofia muscular congénita por déficit de merosina IP: Jordi Barquinero Mañez Col·laboradors: Francina Munell Casadesus, Esther Toro Tamargo Entitat finançadora: Instituto de Salud Carlos III Finançament: 139150 Referència: PI19/00295 Durada: 01/01/2020 - 30/06/2024 Improved diagnostic output in large sarcomeric genes IP: Francina Munell Casadesus Col·laboradors: - Entitat finançadora: Instituto de Salud Carlos III Finançament: Referència: ISCIII/AC/ERA-NET/EJPRD/MUNELL Durada: 13/11/2019 - 13/11/2019 Paginació Pàgina actual 1 Page 2 Page 3 Page 4 Page 5 … Pàgina següent › Última pàgina »
