Yannick AllanoreInstitut Cochin - CNRS / Inserm / Université Paris Descartes

ATIP-Avenir
Mieux comprendre et prendre en charge la sclérodermie systémique.

Mes recherches

Mes recherches portent sur l’identification de nouvelles cibles thérapeutiques dans la sclérodermie systémique. Il s’agit d’une maladie auto-immune orpheline caractérisée par une fibrose dermique, vasculaire et systémique. Nous utilisons des approches génétiques et génomiques dans cette maladie complexe prenant avantage de notre large biobanque personnelle et nos collaborations internationales. Ces cibles sont explorées dans des modèles murins complémentaires qui reproduisent les différents aspects de cette maladie systémique.
J’ai été nommé PUPH à Paris Descartes en 2008 et après un post-doctorat à Necker (InsermU781) j’ai rejoint l’institut Cochin en 2011. Après le programme ATIP-Avenir j’ai pu créer un groupe indépendant. Suite à la dernière évaluation HCERES nous avons regroupé nos équipes avec le Pr. Batteux au sein de l’Institut Cochin pour élargir nos approches et compétences et étendre à différentes maladies nos projets de compréhension des maladies fibro-inflammatoires chroniques.

 

Mon projet ATIP-Avenir

Translational genetics in systemic sclerosis

Systemic sclerosis (SSc) is a severe orphan disease characterized by vascular, immune and connective tissue anomalies. Until now no drug has proven its efficacy to counteract the generalized fibrotic process. Through candidate gene and genomewide studies a handful of risk loci have been identified sor far in SSc. Interestingly, most of them are involved in autoimmunity. This is a major breakthrough in SSc, switching to a new paradigm of the disease which was until recently considered only as a fibroblast dysfunction condition. However, the conducted works face limitations since a substantial amount of the genetic susceptibility remains unidentified. Thus, this project aims to address the issue of the missing heritability. We aim to perform a comprehensive meta-analysis of available genomewide data in SSc in order to increase the statistical power and allow subphenotype analyses. We will also query rare variants by imputation methods. To follow the rare variant paradigm we will conduct a whole exome sequencing project. In order to increase the genetic load, exome sequencing will be performed in SSc patients with an homogenous form defined by associated pre-capillary pulmonary hypertension. In parallel, whole-genome expression studies based on key cellular models will be conducted. The confrontation of these different data sources will be used to achieve an « integromic » analysis by investigations on the interactions between nodes and connections between putative causes and effectors. Finally, animal models will be used to determine the relevance of the newly identified NFkB antagonists and the most relevant newly hypotheses raised by the project. The identification of new risk variants has the potential to improve our understanding of the disease pathogenesis, and may provide novel diagnostic, and more specific and effective therapeutic strategies. Any improvement regarding SSc may have also major impact in other numerous diseases including a fibrotic process.