Monsieur
Bertrand FONTAINE
Enseignant chercheur
Chercheur
ED158
11-03-2015
01-07-2014
18-06-2015
Available to host a PhD student
Role of Wnt signaling during neuromuscular junction formation and maintenance

Team

Notre équipe a la particularité d’être multithématique, avec trois thèmes de recherche.Notre premier objectif (IP : S NICOLE et D HANTAI) est d’étudier les pathologies humaines avec anomalies de l’...

Biographie / Publications

Our team has the particularity to be multithematic, being interested in 3 mains research topics

Our first aim (PI: S NICOLE and D HANTAI) is to study human disorders with abnormal membrane excitability including muscle channelopathies, congenital myasthenic syndromes and related congenital disorders (peripheral nerve hyperexcitability, thermosensitive neuropathy, alternating hemiplegia of childhood). Part of the research is translational and aims at providing clinical, neurophysiological and molecular characterisations to patients in order to facilitate diagnosis. The other part is more fundamental and is aimed to investigate pathophysiological mechanisms using in vitro and in vivo expression models of the diseases.

The second project (PI: C Delarasse) deciphers the role of factors that might affect the course of Alzheimer’s disease (AD) such as the neuroinflammatory processes and the function of the non-amyloidogenic pathway. Our research focuses on the role of the purinergic receptor P2X7R which is upregulated around lesions in AD patients and involved in these pathways.

Our last works lie on the genetics of multiple sclerosis. Our current research is based on the recent identification of 52 genetics factors of susceptibility of multiple sclerosis through a genome wide association study performed by an international consortium (IMSGC). One of our studies concerns the role of genetic interactions between genes coding for adhesion molecules in the development of the disease. The others projects aim to determine to fine localization and the nature of known susceptibility variants by “exom” studies and using evaluation of the genetic burden of patients or group of patients identified by a specific course of the disease.