Jean-Laurent Casanova, MD, PhD, is the recipient of the 2016 American Society for Clinical Investigation (ASCI) Stanley J. Korsmeyer Award in recognition for his discovery that single-gene inborn errors of immunity can underlie life-threatening infectious diseases in otherwise healthy children and young adults.
From the 1950s onward, studies in the field of primary immunodeficiency showed that rare mutations in a single host defense gene may confer Mendelian inheritance of both an overt immunological phenotype and a peculiar infectious phenotype, with susceptibility to multiple, recurrent, and opportunistic infections. Since the mid-1990s, Dr. Casanova has been testing the hypothesis that severe infectious diseases of otherwise healthy children may result from collections of rare single-gene inborn errors of immunity. His research has transformed understanding of the molecular and cellular basis of susceptibility to many types of infectious diseases in children.
Dr. Casanova’s laboratory is located at the Rockefeller University in New York and at the Necker Hospital for Sick Children in Paris. He leads the experimental branch of the Laboratory of Human Genetics of Infectious Diseases. In collaboration with Dr. Laurent Abel and others, Dr. Casanova has deciphered the molecular genetic basis of infectious diseases caused by various bacteria (such as mycobacterial and pneumococcal diseases), viruses (herpes simplex encephalitis, Kaposi sarcoma, and severe influenza), and fungi (chronic mucocutaneous candidiasis and invasive dermatophytic disease). The findings have had clinical implications by providing a basis for genetic counseling and pointing to potential therapies that may restore certain host factors needed to fight infectious diseases in these patients.
Dr. Casanova received his MD in 1987 from Paris Descartes University, and completed his pediatric residency in 1995 and pediatric hematology-immunology fellowship in 1999 at the Necker Hospital for Sick Children and Paris Descartes University. Dr. Casanova also received a PhD in immunology from Pierre et Marie Curie University in 1992. In 1999, he became Professor of Pediatrics at the Necker Hospital and Paris Descartes University, where he is currently a Visiting Professor. He joined the Rockefeller University as a Professor in 2008 and was named an investigator of the Howard Hughes Medical Institute in 2014.
Dr. Casanova was elected to the American Society for Clinical Investigation in 2008, the National Academy of Sciences in 2015, and the National Academy of Medicine in 2015. He is a recipient of several prestigious international awards, including the InBev-Baillet Latour Health Prize (Belgium) in 2011 and the Robert Koch Award (Germany) in 2014.
Jean-Laurent Casanova honored with the 2016 ASCI/Stanley J. Korsmeyer Award in the Journal of Clinical Investigation