MENDELIAN HOLES OFFER A NEW WAY OF LOOKING AT PEDIATRIC INFECTIOUS DISEASES
Jean-Laurent Casanova, M.D., Ph.D., professor of medicine, head of the laboratory of human genetics of infectious diseases, The Rockefeller University.
GEN Podcast, January 22, 2009.
Dr. Casanova studies the genetics of human predisposition to pediatric infectious diseases, particularly mycobacterial, invasive pneumococcal, 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.