Principal Investigator
Institut Des Maladies Genetiques
Paris, Ile-de-France, France
Frederic Rieux-Laucat is 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).
He entered the field of human immunology and pediatric autoimmune diseases during his PhD training and 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, his 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.
His work is now focused on Immunogenetics in early-onset autoimmune syndromes. Recently, his 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. They 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. 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.
Disclosure information not submitted.
Friday, June 24, 2022
11:00 AM – 11:25 AM PT
