Prof. Bruno REVERSADE is a human geneticist. By identifying mutations responsible for monogenic traits (that may be deleterious or beneficial), his teams have 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, Bruno's work 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. This "bedside to bench and back" paradigm has been realized for a wide array of conditions affecting metabolism, immunity, birth defects, infectious diseases or oncology indications. Bruno's work is characterized by its unusual breadth and depth whose foundations rely on mechanism-based investigations. The 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 diagnostics and therapeutics purposes.