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12/06/2014

The Duchenne Parent Project Association awards a grant to VHIR researchers

2014_0134_2014_0134_IMATGE

12/06/2014

Dr. Francina Munell received the grant for a project to investigate the Duchenne Muscular Distrophy

The "https://www.duchenne-spain.org/" Duchenne Parent Project Association awarded on Tuesday one of the three grants for research projects about Becker and Duchenne Muscular Distrophy (DMD) to a team participated by Vall d’Hebron Institut de Recerca (VHIR) researchers, for the project “Study of the efficiency of drugs capable of restoring the dystrophin expression in myoblasts of patients suffering from DMD with nonsense mutations, analysis of the causes that condition the variability in the response and evaluation of strategies to increase this efficiency in human myoblasts and in the mdx mouse”. The project lasts 2 years and the aid amount is 25,000 euros for the first year and the same for the second, after evaluating the results from the first year.From the VHIR, the team counts on the Drs. Francina Munell, María José Pérez and Silvia Ferrer ( "http://www.vhir.org/larecerca/grupsrecerca/ca_grups_equip.asp?Idioma=en&mv1=2&mv2=1&mh1=2&mh2=1&mh3=1&mh4=0&ms=0&area=4&grup=2&menu=3" Pediatric Neurology Unit), Jordi Barquinero ( "http://www.vhir.org/larecerca/grupsrecerca/ca_grups_equip.asp?Idioma=en&mv1=2&mv2=1&mh1=2&mh2=1&mh3=1&mh4=0&ms=0&area=9&grup=4&menu=3" Advanced Therapy Unit), Elena Martínez-Sáez ( "http://www.vhir.org/larecerca/grupsrecerca/ca_grups_equip.asp?Idioma=en&mv1=2&mv2=1&mh1=2&mh2=1&mh3=1&mh4=0&ms=0&area=1&grup=4&menu=3" Molecular Pathology group), and also the project will be developed together with the "http://www.vhebron.net/en/home" Hospital Universitari Vall d’Hebron (HUVH) and the IQS’ "http://gemat.iqs.url.edu/en/" Grup d’Enginyeria de Materials (GEMAT), with the participation of Drs. Salvador Borros, David Sánchez-García and Ofir Arad.The project focuses in the analysis of the variability of the response of the new therapies destined to reestablish the dystrophin expression in patients suffering from DMD, specifically the one focused on correcting the nonsense mutations with PCT124 (Ataluren). The aim is to understand why some of these patients respond less to these treatments and to design new strategies destined to correct these problems. Describing the project, the researchers point that “the best way to approach it is through the collaboration of centers that have experience in neuromuscular diseases in a clinical and translational level with centers that have experience in disciplines that allow to address new mecanisms and strategies”.The DMD is considered a rare disease, diagnosed during childhood, that limits significantly the living years of the affected. It affects 1 of every 3,500 children in the world, with nearly 20,000 new cases every year. It is a progressive disorder of the muscle that causes the loss of its function, which translates in a final loss of independence for the affected and serious medical problems due to the muscle weakness.

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