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Francina Munell Casadesus

Institutions of which they are part

Main researcher
Pediatric Neurology
Vall Hebron Institut de Recerca

Francina Munell Casadesus

Institutions of which they are part

Main researcher
Pediatric Neurology
Vall Hebron Institut de Recerca

Projects

Mejora del rendimiento diagnóstico en genes sarcoméricos de gran tamaño

IP: Francina Munell Casadesus
Collaborators: Laura Costa Comellas, Elena Antima Martinez Saez, Maite Avilés García, David Gómez Andrés
Funding agency: Instituto de Salud Carlos III
Funding: 73205
Reference: AC19/00048
Duration: 01/01/2020 - 31/12/2023

Implementació de la Medicina Personalitzada basada en la Genòmica en Malalties Minoritàries Neurològiques no Diagnosticades

IP: Alfons Macaya Ruíz
Collaborators: Elena García Arumí, Francina Munell Casadesus, Teresa Vendrell Bayona, Ramon Martí Seves, David Gómez Andrés
Funding agency: Generalitat de Catalunya - Departament de Salut
Funding: 113977.67
Reference: SLT002/16/00174
Duration: 01/01/2017 - 31/12/2019

A precise approach for nucleoside-based therapy of neuromuscular disorders with defects in mitochondrial DNA.

IP: Ramon Martí Seves
Collaborators: Francina Munell Casadesus
Funding agency: Instituto de Salud Carlos III
Funding: 424964.55
Reference: PMP15/00025
Duration: 01/01/2016 - 31/12/2021

Estudio de la eficacia de fármacos con capacidad de restaurar la expresión de distrofina en mioblastos de pacientes afectos de DMD con mutaciones nonsense, análisis de las causas que condicionan la variabilidad en la respuesta y evaluación de estrategias destinadas a aumentar esta eficacia en mioblastos humanos y en el ratón mdx.

IP: Francina Munell Casadesus
Collaborators: -
Funding agency: Duchenne Parent Project España
Funding: 50000
Reference: 2014\DPPE\MUNELL
Duration: 11/04/2014 - 10/04/2016

Related news

The donation will enable further characterisation of patients with this rare disease, the identification of new biomarkers and the exploration of innovative therapies.

The clinical trial, which also involved Vall d’Hebron, shows that the new therapy improves survival by 86% in patients with thymidine kinase 2 deficiency (TK2d).

The ClinPrior algorithm achieved a positive diagnosis rate of 70% in two minority diseases of neurodegenerative origin, which represents double the number of cases that are diagnosed with current tools.

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