Jean-Laurent Casanova (The Rockefeller University)

Jean-Laurent Casanova (The Rockefeller University)

Butler Seminar Series

Event Date/Location

January 31, 2018 -
12:00 pm to 1:00 pm
Thomas Laboratory 003


  • Picture of Jean-Laurent Casanova

    Jean-Laurent Casanova, M.D., Ph.D.

    Investigator, Howard Hughes Medical Institute Head
    St. Giles Laboratory of Human Genetics of Infectious Diseases, Senior Attending Physician
    Rockefeller University
    Howard Hughes Medical Insitute

    Dr. Casanova received his M.D. from the University of Paris Descartes in 1987 and his Ph.D. in immunology from the University of Paris Pierre and Marie Curie in 1992. After completing a residency in pediatrics and a clinical fellowship in pediatric immunology-hematology, he was appointed a professor of pediatrics at the Necker Medical School in Paris. There, with Dr. Abel, he cofounded and codirected the Laboratory of Human Genetics of Infectious Diseases in 1999. He was appointed professor at Rockefeller in 2008 and named a Howard Hughes Medical Institute investigator in 2014.


Toward a genetic theory of childhood infectious diseases

The hypothesis that inborn errors of immunity underlie infectious diseases is gaining experimental support. However, the apparent modes of inheritance of predisposition or resistance differ considerably between diseases and between studies. A coherent genetic architecture of infectious diseases is lacking. We suggest here that life-threatening infectious diseases in childhood, occurring in the course of primary infection, result mostly from individually rare but collectively diverse single-gene variations of variable clinical penetrance, whereas the genetic component of predisposition to secondary or reactivation infections in adults is more complex. This model is consistent with (i) the high incidence of most infectious diseases in early childhood, followed by a steady decline, (ii) theoretical modeling of the impact of monogenic or polygenic predisposition on the incidence distribution of infectious diseases before reproductive age, (iii) available molecular evidence from both monogenic and complex genetics of infectious diseases in children and adults, (iv) current knowledge of immunity to primary and secondary or latent infections, (v) the state of the art in the clinical genetics of non-infectious pediatric and adult diseases, and (vi) evolutionary data for the genes underlying single-gene and complex disease risk. With the recent advent of new-generation deep resequencing, this model of single-gene variations underlying severe pediatric infectious diseases is experimentally testable.


Free and open to the university community and the public.


Alex Ploss, Department of Molecular Biology