Rare Diseases: Genetics and Metabolism

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 3 branches:

• In the Genetics of Rare Diseases of the 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 Genetics of Rare Diseases of Motoneurons axe, we are exploring how lipid metabolism influences fundamental cellular functions implicated in spinocerebellar degenerations and neurodegeneration with brain iron accumulation (NBIA).

• In the Mitochondrial Diseases and 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

twitter.com/mrgm_fr

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