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Neuromuscular and Mitochondrial Pathology

The group focuses on the study of pathogenic mechanisms of the mitochondrial diseases, either caused by mutations in nuclear DNA or mitochondrial DNA, associated to diverse neuromuscular syndromes. Specifically, our active research lines are devoted to the study of diseases caused by dysfunctional mitochondrial DNA replication and maintenance, and mitochondrial protein synthesis. We put special efforts on finding and testing potential therapy approaches through preclinical investigation using in vitro and in vivo models of these diseases. We are also working on developing new approaches for genetic diagnosis for these disorders, as well as on testing novel genetic variants for potential pathogenicity trough functional studies.

In addition, we are also working on the study of other metabolic neuromuscular disorders, such as the glycogenosis type V (McArdle Disease) and other muscle glycogenoses. This research line includes the coordination of the European patient registry EUROMAC. 

Projects

Xarxa interhospitalària catalana de variants genètiques per millorar el diagnòstic genètic en malalties rares

IP: Elena García Arumí
Collaborators: -
Funding agency: Fundació La Marató de TV3
Funding: 142966.35
Reference: 590/C/2020
Duration: 08/07/2021 - 31/12/2024

El complejo respiratorio mitocondrial I en la interfaz entre el metabolismo energético y la homeostasis de nucelótidos

IP: Yolanda Cámara Navarro
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 157300
Reference: PID2020-112929RB-I00
Duration: 01/09/2021 - 30/08/2024

Ministerio de Ciencia

Eficacia preclínica del uso de desoxiribonucleósidos como tratamiento para los síndromes de depleción/deleciones multiples del DNA mitocondrial (MDDS). Ampliación a causas genéticas no exploradas.

IP: Ramon Martí Seves
Collaborators: Miguel Molina Berenguer, Mª Jesus Melia Grimal, Javier Francisco Ramón Pasías
Funding agency: Instituto de Salud Carlos III
Funding: 153670
Reference: PI21/00554
Duration: 01/01/2022 - 31/12/2025

Desarrollo de una estrategia de terapia génica para la deficiencia combinada de la fosforilación oxidativa tipo 1 debido a mutaciones en GFM1.

IP: Ramon Martí Seves
Collaborators: Miguel Molina Berenguer
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 150000
Reference: AP176532021
Duration: 07/07/2021 - 06/07/2025

Blog

News

The meeting was an opportunity to get to know projects from both institutions and to promote interaction between professionals.

The newly developed analytical workflow could in the future be introduced as a comprehensive diagnostic test for patients with mitochondrial diseases.

Rates

Check the current rates of the Neuromuscular and Mitochondrial Pathology research group.