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Dr. Casanova studies the genetics of human predisposition to pediatric infectious diseases, particularly mycobacterial diseases, invasive pneumococcal diseases, and herpes simplex encephalitis. He is interested in identifying Mendelian "holes" in the immune defense of otherwise healthy children who are susceptible to specific infectious diseases, work that has resulted in a paradigm shift in human clinical medicine and fundamental immunology.
Dr. Casanova's laboratory aims to understand what it is that makes some children develop a severe clinical illness in the course of infection while others exposed to the same microbe remain unharmed. In the past decade, the Casanova and Abel laboratory in Paris revealed that single genetic lesions in children confer severe and selective vulnerability to certain illnesses, whereas corresponding infections in adults result more from polygenetic inheritance. This work not only blurs the distinction between patient-based Mendelian genetics and population-based complex genetics but has also provided experimental support for a unified theory of human infectious diseases.
During this week's podcast, Dr. Casanova provides additional evidence that infectious diseases are also genetic, perhaps even more so than any other group of human disease, despite the prevailing view that infectious diseases are essentially environmental. He discusses his novel theory of primary immunodeficiencies and elaborates on the concept of Mendelian holes. Dr. Casanova also explains the profound clinical implications that result from the study of these Mendelian holes.
Dr. Casanova received his M.D. from the University of Paris René
Descartes in 1987 and his Ph.D. in immunology from the University of
Paris Pierre et Marie Curie in 1992, after being trained at the Pasteur
Institute in Paris and the Ludwig Institute for Cancer Research in
Lausanne. Following a residency in pediatrics in Paris, he completed a
clinical fellowship in the pediatric immunology-hematology unit of the
Necker Medical School in Paris. In 1999 he was appointed a professor of
pediatrics at Necker, where, with Dr. Abel, he cofounded and codirected
the Laboratory of Human Genetics of Infectious Diseases. He was
appointed professor at Rockefeller University in 2008.
Dr. Casanova was an international research scholar with the Howard
Hughes Medical Institute from 2005 to 2008 and is a member of the
European Molecular Biology Organization and the American Society for
Clinical Investigation. Dr. Casanova is the recipient of the 2008
Richard Lounsbery Award from the French and American Academies of
Sciences and a Professor Lucien Dautrebande Pathophysiology Foundation
Prize from the Belgian Royal Academy of Medicine in 2004.