ASI Visiting Speaker Program hosted by Dr Vanessa Bryant

Dr Stephanie Boisson-Dupuis

Laboratory of Human Genetis of Infectious Diseases, Rockefeller University, USA

Tuberculosis, a genetic disorder is some patients

Davis Auditorium

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Including Q&A session

Dr Stephanie Boisson-Dupuis, PhD is a Staff Scientist leading the mycobacterial division at the Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, NY. She is also an Associate Professor at the Imagine Institute, Necker Hospital for Sick Children, Université Paris Cité, France, where the Necker Branch of the lab is located. Dr. Boisson-Dupuis began her research career at University Paris René Descartes and INSERM, making key discoveries in Mendelian susceptibility to mycobacterial disease (MSMD). She was recruited to a permanent research position in 2006, and initiated the study of tuberculosis as a genetic disorder.

Dr Boisson-Dupuis’s research program focuses on the molecular genetics of tuberculosis (TB) by uncovering novel inborn errors that drive disease susceptibility. She provided the first proof-ofprinciple that TB in children can result from single-gene inborn errors of immunity, with rare mutations identified in genes encoding IL-12Rβ1, PD-1, ITK, and TYK2, underscoring the essential role of IL-23-mediated IFN-γ immunity in TB resistance. Her team also discovered that homozygosity for the P1104A variant in TYK2 as a common genetic cause of TB, accounting for 1% of cases in Europe, and recently characterised the first human TNF deficiency exclusively associated with TB. These discoveries open promising pathways for new treatments and prevention strategies.

All Welcome!