Francina Munell Casadesus Institutions of which they are part Main researcher Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases Vall Hebron Institut de Recerca Email Francina Munell Casadesus Email Institutions of which they are part Main researcher Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases Vall Hebron Institut de Recerca
Research lines Pediatric Neuromuscular Disorders 1. DUCHENNE MUSCULAR DYSTROPHY (DMD)THERAPEUTIC POTENTIAL OF ESTROGENS IN DMD, EFFECTS AND MECHANISMS OF ACTION ON SATELLITE CELLS AND MACROPHAGESWe 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 DELIVERYCompounds 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 MYOPATHIESWe 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 Projects Distrofia muscular congénita tipo 1A: inhibición de la fibrosis y corrección mediante edición génica IP: - Collaborators: Laura Costa Comellas, Francina Munell Casadesus, Maria Pallares Masmitja, David Gómez Andrés, Rocío Piñera Moreno Funding agency: Instituto de Salud Carlos III Funding: 117370 Reference: PI22/01027 Duration: 01/01/2023 - 30/06/2027 Neurologia infantil IP: Alfons Macaya Ruíz Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Francina Munell Casadesus, Anna Marcé Grau, Miquel Raspall Chaure, Mireia Del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Neurologia infantil, David Gómez Andrés, Amaia Lasa Aranzasti, Lucy Dougherty de Miguel Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 0.01 Reference: 2021 SGR 01171 Duration: 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: - Collaborators: Francina Munell Casadesus, Esther Toro Tamargo Funding agency: Instituto de Salud Carlos III Funding: 139150 Reference: PI19/00295 Duration: 01/01/2020 - 30/06/2024 Improved diagnostic output in large sarcomeric genes IP: Francina Munell Casadesus Collaborators: - Funding agency: Instituto de Salud Carlos III Funding: Reference: ISCIII/AC/ERA-NET/EJPRD/MUNELL Duration: 13/11/2019 - 13/11/2019 Pagination Current page 1 Page 2 Page 3 Page 4 Page 5 … Next page › Last page »
