We leverage the power of human Mendelian genetics for target validation and preclinical drug development for larger unmet medical needs. The breadth and depth of the research carious out in the Laboratory of Human Genetics & Therapeutics rely on causation and mechanism-based investigations.
Prof. Bruno Reversade is a human geneticist. By identifying mutations responsible for monogenic traits (that may be deleterious or beneficial), his group has pioneered a paradigm shift in the field of Mendelian genetics. By pinpointing the subverted biological pathways which not only underlie the etiology of unique inherited conditions, Reversade has revealed biological nodes whose perturbation contributes to common maladies. This concept of "rare begets common" highlights how the study of humans with extreme phenotypes can foster innovation in therapies for common unmet medical needs.
Through a reiterative "bedside to bench and back" paradigm, Reversade's team has deciphered the etiology of a wide array of conditions affecting metabolism, immunity, birth defects, infectious diseases, and oncology indications.
His team employs patient-derived organoids, animal models, and biochemical/structural assays to derive meaningful insights into the origin of each condition studied. Several of these discoveries have been licensed or are being developed for therapeutics
Work in the Laboratory of Human Genetics & Therapeutics is characterized by both its breadth and depth, the foundations of which rely on mechanism-based investigations.
2008-2012 Inaugural A*STAR Principal Investigator (Singapore)
2000-2007 Research Associate, Howard Hughes Medical Institute, University of California, Los Angeles (U.S.A.)
2006 Ph.D., Université Pierre & Marie Curie (France) and University of California, Los Angeles (U.S.A.)
2000 M.S., Pasteur Institute, (France)