HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models https://sbm.u-bordeaux.fr/actualites/mise-en-lumiere-de-la-publication-hras-germline-mutations-impair-lkb1ampk-signaling-and-mitochondrial-homeostasis-costello-syndr
WELCOME TO MRGM
The ambition of the MRGM is to decipher the molecular mechanisms laying at the root of the pathophysiology of rare diseases and make our findings worth for patients.
Research at MRGM (INSERM U1211) lays on 2 branches:
In the Genetic anomalies of Development axe, we are identifying and characterizing candidate genes that are linked to various rare diseases including albinism, Oculo-Auriculo-Vertebral Spectrum (OAVS), Rubinstein-Taybi syndrome, and pathologies associated to RAS dysfunction.
In the innate errors of mitochondrial metabolism axe, we are investigating how mitochondrial bioenergetics and dynamics govern fundamental cellular functions involved in rare diseases, cancer and immune responses.
The MRGM closely intertwines with patient associations and the University of Bordeaux to anchor in the society. Together with the Genetic Department of the Public Hospital of Bordeaux, the MRGM is part of the French Centers of References for Developmental Anomalies (SOOR), Neurogenetic Diseases (NEUROGENE), and Mitochondrial Diseases (CARAMMEL), thereby contributing in improving public health system and patient care.
Our aim is to improve diagnosis, reveal new targets, and develop new drugs for the treatment of rare diseases.
We are on Twitter
Inserm’s Science and Society department has published testimonies of participatory research on the Inserm website. These exchanges are rich in lessons on collaborative research methods…
Didier Lacombe: CSS2 – Cancerology, genetic diseases.
Rodrigue Rossignol: CSS3 – Physiology and physiopathology of large systems.
Our research unit, the MRGM (Rare Diseases: Genetics and Metabolism), was evaluated by HCERES in February 2021.
The MRGM invites José Antonio Enríquez, a world leading scientist of the mitochondrial research field, to give a lecture on his exciting recent work.