Page 79 - MemoriaCIBER-2018ENG

• Starting up the National Registry of Mitochondrial Diseases, thanks to the donations of the Asociación de Enfermos de Patología Mitocondrial and the Fundación Ana Carolina Díez Mahou, led by Rafael Artuch and Miguel Ángel Martín Casanueva.
Some groups in the PdI are taking part in the projects granted by the CIBERER in 2018 in the following calls:
• Translational Research Projects: highlighting the project on monitoring the treatment of patients with GLUT1 syndrome, which is coordinated by Luis González Gutiérrez-Solana and with the participation of several groups in the PdI.
• Therapies: stressing the project on pharmacological chaperones for congenital glycosylation defect PMM2- CDG, coordinated by Belén Pérez with the participation of Vicente Rubio’s group.
Mitochondrial and Neuromuscular Medicine
Coordinator:
Francesc Palau Martínez
The 13 groups in the Programme have obtained some significant scientific results tackling mitochondrial diseases wich affect the person’s bioenergy balance. This was done through studying the genome-mitochondrial communication and the physiopathology and mechanisms of disease in cell models and iPSC, the promotion of translational research and therapeutic research from the development
of animal models to the preclinical stage and biomarkers, especially in neuromuscular pathologies, such as:
• Review article on autoimmune encephalitis, inflammatory diseases of the brain which were completely unknown until 10 years ago, the authors being Josep Dalmau and Francesc Graus. Doi:10.1056/ NEJMra1708712
• Different mitochondrial diseases converge in the same metabolic footprint: the oxidative damage of proteins, an article led
Lastly, the PdI is prominent for its work in organising symposia and conferences in 2018. One example of this could be the Symposium on updating research into Rett’s syndrome, arranged at the Hospital Sant Joan de Déu by Àngels García-Cazorla, Mar O’Callaghan, Judith Armstrong and Alfonso Oyarzábal. Another annual encounter organised by the PdI is the symposium of the Group for Minority Diseases of the Adult coordinated by Rafael Artuch and Antònia Ribes, at which patients, researchers and healthcare staff from Barcelona met. The PdI researchers also met those affected by CDG to present them with the results of their projects. Lastly, the multidisciplinary group for care for patients with mucopolysaccharidosis and other neurodegenerative diseases organised its event in Madrid, coordinated
by Luis González Gutiérrez-Solana, with the participation of Mireia Del Toro and María Luz Couce.
by José M. Cuezva with the participation of Ramón Martí and M.A. Martín. doi: 10.1016/j. freeradbiomed.2018.08.020.
• Identification of the muscular replacement by fat in a large group of those affected by oculopharyngeal muscular dystrophy, an article led by Jordi Díaz-Manera, from Isabel Illa’s unit, in which researchers from the groups of Pía Gallano, M.A. Martín and Juan J. Vílchez have taken part. Doi: 10.1136/ jnnp- 2018-319578.
Some of the achievements in the therapeutic field that could be stressed are the participation of several groups from the programme in the Call for Therapies, and specifically 1 of the 4 financed projects being granted to the project for “Pharmacological screening and preclinical tests of Charcot-Marie-Tooth neuropathy due to mutations in GDAP1”, coordinated by Francesc Palau and with the participation of the groups of José M. Cuezva, Jorguina Satrústegui and Juan Vílchez/ Teresa Sevilla.
As regards cooperation, special mention should go to the fact that in the Call for Work Groups issued this year, 3 of the 11 groups are coordinated by groups from the PdI: “RedELA – Network for Research into Amyotrophic Lateral Sclerosis”, “GRACIA - Genetic Research and Cerebral Integrative Action Circuits”, and “Clinical
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CIBERER | ANNUAL REPORT 2018