Sobre el VHIR
Al Vall d’Hebron Institut de Recerca (VHIR) promovem la recerca biomèdica, la innovació i la docència. Més de 1.800 persones busquen comprendre les malalties avui per millorar-ne el tractament demà.
Recerca
Treballem per entendre les malalties, saber com funcionen i crear millors tractaments per als pacients. Coneix els nostres grups i les seves línies de recerca.
Persones
Les persones són el centre del Vall d'Hebron Institut de Recerca (VHIR). Per això ens vinculem amb els principis de llibertat de recerca, igualtat de gènere i actitud professional que promou l’HRS4R.
Assaigs clínics
La nostra tasca no és només bàsica o translacional; som líders en recerca clínica. Entra per saber quins assaigs clínics estem duent a terme i perquè som referent mundial en aquest camp.
Progrés
Volem que la recerca que es fa al Vall d’Hebron Institut de Recerca (VHIR) sigui un motor de transformació. Com? Identificant noves vies i solucions per fomentar la salut i el benestar de les persones.
Core facilities
Oferim un suport especialitzat als investigadors tant interns com externs, des d’un servei concret fins a l’elaboració d’un projecte complet. Tot, amb una perspectiva de qualitat i agilitat de resposta.
Actualitat
Et donem una porta d’entrada per estar al dia de tot el que passa al Vall d’Hebron Institut de Recerca (VHIR), des de les últimes notícies fins a les activitats i iniciatives solidàries futures que estem organitzant.
Speaker: Javier Francisco Ramon Pasías, Postdoctoral researcher Neuromuscular and Mitochondrial Pathology, Vall Hebron Institut de Recerca (VHIR)
Dr. Javier Ramón received his degree in Biomedical sciences in 2015 from the Universitat de Lleida. On his degree he studied the role of the human protein hSPCA1 in calcium and manganese homeostasis using S.cerevisiae as a model. Later, he obtained a master in Advanced microbiology from Universitat de Barcelona and he studied the molecular epidemiology of the human circulating coronaviruses in Hospital Universitari Vall d’Hebron. Then, he stayed in CABIMER (Seville) studying the role of some proteins in double strand break repair through DNA end resection. Finally, in 2018, he incorporated in neuromuscular and mitochondrial pathology lab in Institut de Recerca Vall d’Hebron where he obtained his PhD in 2024 and where he is currently working on treatment of mitochondrial DNA depletion and multiple deletion syndromes using deoxyribonucleosides.
Mitochondrial DNA (mtDNA) depletion and deletions syndromes (MDDS) are diseases characterized by incorrect maintenance of mtDNA resulting in quantitative (depletion) and/or qualitative (multiple deletions and point mutations) alterations of mtDNA. They are rare diseases with heterogeneous clinical presentations (often severe) with no treatment. Deoxyribonucleoside (dN) supplementation was proposed as a treatment for a type of MDDS, the myopathy due to thymidine kinase 2 deficiency (TK2d). This approach showed efficacy in murine models of the disease, in a cohort of patients treated under compassionate basis, and is currently under clinical trial. Subsequently, in vitro studies have shown that dNs also stimulate mtDNA replication in cells with mutations in other MDDS-associated genes possibly by expanding deoxyrinonucleoside triphosphate (dNTP) concentrations and therefore stimulating the mitochondrial replisome. These results suggest that the same therapy approach could be extended to other MDDS forms.
Host: Dr. Ramón Martí Seves, Head of group Neuromuscular and Mitochondrial Pathology, Vall Hebron Institut de Recerca (VHIR)
Online attendance: https://gencat.zoom.us/j/81216982265
