The scientific journal ‘Cells’ publishes a new study developed by Grupo Park with the collaboration of Fundación Isabel Gemio

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The scientific journal ‘Cells’, with almost 7.7 impact factor, has published the results of a study on autophagy modifications in myotonic dystrophy type I, developed by Group Park researchers with the collaboration of Fundación Isabel Gemio.

Grupo Park has been studying the molecular mechanisms involved in the aetiology of neurodegenerative diseases for 20 years. It is part of the Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED) of the Instituto de Salud Carlos III (ISCIII) and the Instituto Universitario de Investigación Biosanitaria de Extremadura (INUBE).

The research centre assures us that they continue to work on the same line of myotonic dystrophy type I and hope to be able to offer more tangible results soon.

Read the study in the following link: CELLS

PRESS: SIGLO XXI / Infosalus

A new study co-funded by Fundación Isabel Gemio Foundation advances our knowledge of a mutation responsible for Duchenne and Becker muscular dystrophies

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A Spanish multicentre study, co-funded by Fundación Isabel Gemio has deepened the understanding of the forms of expression of a rare mutation of the dystrophin gene that is responsible for Duchenne and Becker muscular dystrophies. The work suggests that this mutation (deletion of exons 45-55) could be used as a model for gene therapy advantageously compared to other alternatives that are currently in the experimental phase.

The research has been led by Juan Jesús Vílchez, from the Instituto de Investigación Sanitaria La Fe in Valencia, in collaboration with the group led by Pía Gallano from the Hospital San Pau in Barcelona. Numerous hospitals in Spain and research units from the IIS La FE, the University of Valencia and the Autonomous University of Barcelona have also participated.

Read more information on the following links:

CIBERISCIII

DiCYT

iSanidad

Did you watch all the stories we shared in September?

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  • Sara is 24 years old and she suffers a genetic disproportion of muscle fiber types, due to a mutation of RHNO gene.
  • Laura suffers the Charcot Marie Tooth disease (CMT). She was diagnosed with this disease when she was 7 years old. 
  • Mónica is 21 years old and she suffers three rare syndromes: Willkie syndrome, Nutcracker syndrome and May-Thurner syndrome.
  • Antonio is 19 years old, and he suffers Becker muscular dystrophy.

The initiative, co-funded by the Erasmus+ Programme of the European Union, aims at the creation of a European network of European foundations, institutions, and entities in order to promote the exchange of experiences and good practices. The partners of the initiative are:

  • Fundación Isabel Gemio (Spain)
  • Federación Española de Enfermedades Neuromusculares (Spain)
  • Parent Project APS per la Ricerca sulla Distrofa Muscolare (Italy)
  • Charcot-Marie-Tooth et Neuropathies Peripheriques (France)
  • Uniamo Federazione Italiana Malattie Rare (Italy)