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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, Eduardo Fidel Tizzano
Funding agency: Generalitat de Catalunya - Departament de Salut
Funding: 113977.67
Reference: SLT002/16/00174
Duration: 01/01/2017 - 31/12/2019

Neurologia Pediàtrica (GRC)

IP: Alfons Macaya Ruíz
Collaborators: Susana Boronat Guerero, Francina Munell Casadesus, Maria Jose Pérez García, Anna Marcé Grau, Miquel Raspall Chaure, Mireia Del Toro Riera, Marta Vila Pueyo
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding:
Reference: 2014 SGR 1087
Duration: 01/01/2014 - 31/12/2016

The working hypothesis of this grant is that NMJ dysfunction is contributing to SMA. Therefore we propose to understand the dysfunction of NMJ in SMA and find specific molecules that can restore the NMJ functionality and improve the quality of the life o

IP: Francina Munell Casadesus
Collaborators: Maria Jose Pérez García
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 91022.4
Reference: 2013 BP_B 00083
Duration: 01/10/2014 - 30/09/2016

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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