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个人简介
A. Personal Statement
I am currently holding a position of Director of Research at the National Institute of Health and Medical Research (Inserm) and Group Leader of the laboratory “Immunogenetics of Pediatric Autoimmune Diseases” at Imagine Institute, Paris, France (private Research and Healthcare Institute located in the campus of Necker Hospital Campus). I am also sitting at the Board of Trustees as a Teaching and Research Representative and at the Executive Committee, as well as at the Scientific Board of the Jérome LEJEUNE fundation and I am a member of the Scientific Evaluation Committee of Pasteur Institute (COMESP). From 2012 to 2016 I was the president of the Specialized Scientific committee Immunology-Microbiology at INSERM, and from 2016 to 2020 I was a member of the Scientific Commission of the Arc Foundation.
My research team is focusing on the mechanisms involved in the control of self-tolerance in primary human immunodeficiencies associated with early-onset autoimmunity. Our works aim to provide a better understanding of the molecular and cellular bases of the mechanisms involved in lymphocytes homeostasis and self-tolerance, and should allow the identification of susceptibility factors as well as specific therapeutic targets to human auto-immune diseases.
As for today I authored or co-authored >145 articles in numerous scientific journals (h-Index:47), including, as first or last author, articles in Science, New England Journal of Medicine, Nature Communication, Journal of Clinical Investigation, Journal of experimental Medicine, Blood and many others. I am an Academic Editor at PLoS ONE and Associate Editor at Frontiers in immunology. I received the Jacques Oudin Price in 2006 and was awarded by Inserm with a price for Scientific Excellence (PES). I also received an iAwards from Sanofi in 2018. Lastly, I am coordinating a consortium project granted by the 4th RHU call (9.9M€), dedicated to develop AI-based tools to reduce the diagnosis wandering and to guide the clinician decision in Primary Immune deficiencies associated with auto-immunity and auto-inflammation. As the Principal investigator of the “ Immunogenetics of pediatric autoimmune diseases” lab at the Imagine Institute, I have supervised and mentored of >10 PhD, 7 postdocs, 8 technicians/ engineers, >15 M2 and >20 trainees and 2 HDR.
B. Contributions to Science
I entered the field of human immunology and pediatric autoimmune diseases during my PhD training and I discovered the first genetic cause of autoimmunity in humans through the description of dominant negative mutations of the FAS gene in patients presenting with autoimmune lymphoproliferative syndrome. Later on, my team described the first FAS somatic mutations in sporadic cases of ALPS, and combined germline and somatic FAS mutations in families with non-Mendelian expression of ALPS. After a post-doctoral position at the Genetic Institute of Cologne, Germany, gaining expertise in the generation of mouse models using homologous recombination approaches in embryonic stem cells.
I obtained a permanent position at INSERM where I led a team focused on genetics bases of autoimmunity. My work is now focused on Immunogenetics in ALPS and Evans Syndrome, Juvenile Myelomonocytic Leukemia, Immunogenetics of pediatric Lupus and Juvenile Idiopathic Arthritis (supported by grants from EU FP6 and FP7 programs, ANR, FRM, FMR, and a collaborative contract with SANOFI) and Immunogenetics of Poly-Autoimmune syndromes. Recently, my team discovered the first inherited mutations of STING1 in patients presenting with severe vasculopathy, lung fibrosis and lupus-like features, leading to the repurposing of JAK inhibitors as specific therapeutics. We also described the genetic bases of pediatric Evans syndrome, and very recently SOCS1 haploinsufficiency in patients with lupus, psoriasis or autoimmune cytopenia. The identification of the hyper activation of the JAK-STAT pathways in those patients prompted clinicians to use JAK inhibitors in this condition. Finally, our expertise in the analysis of the human immune response led to us to describe an impaired Type-I IFN production in the most severe cases of SARS-CoV2 infection in adults, providing a molecular rationale in view of type-I IFN-based therapies in hospitalized COVID-19 patients. This is illustrating the Bedside to Bench back to bedside spirit developed at the Imagine Institute, a research center dedicated to explore and treat patients with rare genetic diseases.
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