eCORE
- Advanced Therapies and Advanced Interventions, Nanomedicine, Transplant & Donation
- Brain & Mind and Behaviour
- Woman & Child Health & Rare Diseases
Team
Group Leader
Ramon Martí Seves
Principal Investigator (PI)
Elena García-Arumí, Tomàs Pinós Figueras, Yolanda Cámara Navarro
Researchers
Maria Jesús Melià Grimal, Miguel Molina Berenguer
PhD Students
Javier Ramón Pasías, Mónica Azucena Villareal Salazar, Andrea Férriz Gordillo, Pau Mollá Zaragozá, Bernat García Adán, Juan Luis Restrepo Vera, Izaskun Izagirre Urizar
Selected Publications
Valenzuela PL, Santalla A, Alejo LB, Merlo A, Bustos A, Castellote-Bellés L, Ferrer-Costa R, Maffiuletti NA, Barranco-Gil D, Pinós T, Lucia A.
Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease.
J Sport Health Sci. 2024 May;13(3):398-408.
DOI: 10.1016/j.jshs.2023.11.006.
IF: 9.7
Valenzuela PL, Santalla A, Alejo LB, Bustos A, Ozcoidi LM, Castellote-Bellés L, Ferrer-Costa R, Villarreal-Salazar M, Morán M, Barranco-Gil D, Pinós T, Lucia A.
Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease.
Clin Nutr. 2024 Mar;43(3):692-700.
DOI: 10.1016/j.clnu.2024.01.026.
IF: 6.6
Santos-Lozano A, Boraita A, Valenzuela PL, Santalla A, Villarreal-Salazar M, Bustos A, Alejo LB, Barranco-Gil D, Millán-Parlanti D, López-Ortiz S, Peñín-Grandes S, Orellana JN, Fiuza-Luces C, GáLVEZ BG, García-FERNáNDEZ MÁ, Pinós T, Lucia A.
Exercise Intolerance in McArdle Disease: A Role for Cardiac Impairment? A Preliminary Study in Humans and Mice.
Med Sci Sports Exerc. 2024 Dec 1;56(12):2241-2255.
DOI: 10.1249/MSS.0000000000003529
IF: 4.10
Hidalgo-Gutierrez A, Shintaku J, Ramon J, Barriocanal-Casado E, Pesini A, Saneto RP, Garrabou G, Milisenda JC, Matas-Garcia A, Gort L, Ugarteburu O, Gu Y, Koganti L, Wang T, Tadesse S, Meneri M, Sciacco M, Wang S, Tanji K, Horwitz MS, Dorschner MO, Mansukhani M, Comi GP, Ronchi D, Marti R, Ribes A, Tort F, Hirano M.
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
Ann Neurol. 2024 Dec;96(6):1209-1224.
DOI: 10.1002/ana.27071
IF: 8.10
Antolin M, Tarrasó G, Sánchez MÁ, Plaja A, Martínez-Cruz D, Xunclà M, Castells N, Carreras E, Tizzano EF, García-Arumí E.
Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.
J Clin Med. 2024 Jul 9;13(14):4007.
DOI: 10.3390/jcm13144007
IF: 3.00
Selected Projects
Nueva aproximación a la enfermedad de McArdle: Un enfoque integrador desde los modelos preclínicos hasta la calidad de vida de los pacientes.
Principal Investigator: Tomàs Pinós
Agency: Instituto de Salud Carlos III (Ref. PI22/00201)
Funding: 93,170 €
Period: 2023-2025
Preclinical efficacy studies for the use of deoxyribonucleosides as a treatment for mitochondrial DNA depletion/multiple deletions syndromes (MDDS). Extension to unexplored genetic causes.
Principal Investigator: Ramon Martí
Agency: Instituto de Salud Carlos III (Ref. PI21/00554)
Funding: 153,670 €
Period: 2022-2024
Deoxyribonucleosides as a therapy for mitochondrial DNA replication disorders: understanding therapeutic mechanisms and broadening the treatment to mutations in POLG and other related genes.
Principal Investigator: Ramon Martí
Agency: Fundació La Marató de TV3
Funding: 296,375 €
Period: 2021-2024
Mitochondrial respiratory complex I at the interface between oxidative metabolism and nucleotide homeostasis
Principal Investigator: Yolanda Cámara
Agency: Ministerio de Ciencia e Innovación «Proyectos I+D+i» 2020 - Modalidad «Retos Investigación»
Funding: 157,300 €
Period: 2021-2024
Desarrollo de una estrategia de terapia génica para la deficiencia combinada de la fosforilación oxidativa tipo 1 debido a mutaciones en GFM1.
Principal Investigator: Ramon Martí
Agency: Fundación Mutua Madrileña
Funding: 150,000 €
Period: 2021-2024
Patents
Deoxynucleoside substrate enhancement therapy for thymidine kinase 2 (TK2) deficiency
Priority Number: PCT/US2016/038110
Priority Date: 17/06/2015
Applicants: 20% VHIR; 80% COLUMBIA UNIVERSITY
Treatment of Mitochondrial Diseases
Priority Number: PCT/EP2016/062636
Priority Date: 05/06/2015
Applicants: 70% VHIR; 30% CIBERER
Selected Dissemination Activities
Visiting students of the Higher Training Cycle on Pathology
Place: VHIR
Date: 04/08/2024
Brief: Tomàs Pinós and Maria Jesús Melià presented to the students our research workm with demos in the lab.
VHIR award Exporecerca Jove (visiting student)
Place: VHIR
Date: 01/01/1970
Brief: Ramon Martí presented to the awarded high school student the work of the research group, and discussed with him his questions about the reserch career.
EURORDIS Open Academy Training. Medicines Research & Development (MRD) and Scientific Innovation & Translational Research (SITR)
Place: VHIR
Date: 06/06/2024
Brief: Yolanda Cámara, Miguel Molina and Maria Jesús Melià explained to the attendants (patients, relatives, caregivers, and other attendants involved in rare disorders) our research projects, and discussed with the attendants several aspects of biomedical research in rare diseases.
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European Researchers’ Night 2024
Place: Centre Cívic Sant Josep, L’Hospitalet de Llobregat
Date: 01/01/1970
Brief: Pau Mollà i Bernat García organized for the attendants a wrkshop about genetic disorders and about research on Mitochondrial diseases
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29ª edition of the Science week (per què som com som?)
Place: Centre Polivalent de Montbau
Date: 11/12/2024
Brief: Pau Mollá organized a workshop on genetic disorders to the attendants
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