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Mitochondrial and Neuromuscular Medicine
Coordinator: Francesc Palau
The 12 groups in the Programme have obtained some important results in the scientific field, in dissemination and cooperation with patients’ associations, both on their own and in cooperation with other CIBERER groups.
In the scientific domain we should stress the progress made with regard to tackling diseases with mitochondria as their physiopathological target and which affect the individual’s bioenergy balance, through a study of the genome-mitochondrial communication and of physiopathology and disease mechanisms in cell models and iPSC, on the promotion of translational research and of therapeutic research from the development of animal models to the preclinical stage, biomarkers, especially in neuromuscular pathologies.
Some of the accomplishments in the therapeutic field to be emphasised could be the designation as orphan drug by the European Medicines Agency (EMA) of Ubiquinol for treatment of primary Q10 enzyme deficiency. We should also stress the search for therapeutic strategies for mitochondrial diseases with nucleosides or the approaches with gene therapy.
From the translation standpoint we could highlight the implication of groups in the PdI in the following Reference European networks: Rare Neuromuscular Diseases, Rare Hereditary Metabolic Disorders and Rare Neurological Diseases.
The groups in the PdI are also doing a lot of work in Registries: Registro Español de Enfermedades Neuromusculares NMD-ES, Registro de Enfermedades Mitocondriales (in cooperation with AEPMI- Asociación de Enfermos de Patologías Mitocondriales and the Fundación Ana Carolina Díaz Mahou) and McArdle Registry (EUROMAC).
As regards the transversal contribution to the CIBERER as a whole we should mention the coordination of the energy metabolism phenotyping platform PROTEOmAB.
The groups in the programme have also cooperated with patients’ associations, such as AEPMI, whose president spoke at the Programme’s Annual Meeting in representation of the Association and ASEM (Federación Española de Enfermedades Neuromusculares), with which a cooperation agreement was signed this year.
We should also stress the cooperation agreement signed by the CIBERER, the Obra Social “la Caixa” and the Fundación Mencía to carry out a preclinical research project on a mitochondrial disease led by the U701 (Dr. Martí).
The groups in the Programme arranged different meetings or events of interest, some of the more noteworthy of these being as follows:
• 4a Reunión Científica Anual del Programa de Investigación, held on 12 December at the Hospital 12 de Octubre in Madrid.
• I Jornada Nacional de la Enfermedad de Menkes, organised by the CIBERER, the Hospital Sant Joan de Déu de Barcelona and the Asociación Amigos de Nono, on 29 and 30 January in Barcelona.
• II Jornadas de Investigación Traslacional en Enfermedades Raras: Últimos Avances en Enfermedades Neuromusculares, arranged by the Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC) along with the Asociación de Enfermedades Neuromusculares de Córdoba (ASENCO) in cooperation with the CIBERER, on 11 and 12 November in Cordova.
• Jornada TREAT CMT sobre investigación traslacional, medicina experimental y terapéutica de la enfermedad de Charcot-Marie-Tooth (CMT), on 23 November at the ISCIII.
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