The rockefeller university

Event Details

Type

Friday Lecture Series

Speaker(s)

Jean-Laurent Casanova, M.D., Ph.D., senior attending physician, professor and head, St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University; investigator, Howard Hughes Medical Institute

Speaker bio(s)

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. Dr. Casanova suggests 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.

 

Dr. Casanova is a pediatrician and immunologist by training, and in practice, has become a human geneticist investigating infectious diseases. He discovered that life-threatening infectious diseases of childhood may be caused by single-gene inborn errors of immunity. He revealed single-gene mutations that create ‘holes’ in the immune system of children who are susceptible to specific infectious diseases, yet remain normally resistant to other infectious agents.

 

Dr. Casanova received his M.D. from the University of Paris Descartes in 1987. He received his Ph.D. in immunology from the University of Paris Pierre and 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 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 2001. He was appointed professor at Rockefeller in 2008 and named a Howard Hughes Medical Institute investigator in 2014.

 

Dr. Casanova was an international research scholar with the Howard Hughes Medical Institute from 2005 to 2008 and was elected to the European Molecular Biology Organization in 2005. Dr. Casanova was the recipient of the Professor Lucien Dautrebande Pathophysiology Foundation Prize in 2004, the Richard Lounsbery Award in 2008, the E. Mead Johnson Award from the Society for Pediatric Research in 2010, the InBev Baillet-Latour Health Prize in 2011, the Ilse and Helmut Wachter Foundation Award and the Milstein Award in 2012, and the Robert Koch Prize and the Sanofi – Institut Pasteur Award in 2014.

 

Open to

Public

Reception

Refreshments, 3:15 p.m. - 3:45 p.m., Abby Lounge

Contact

Linda Hanssler(opens in new window)

Phone

(212) 327-7714(opens in new window)

Sponsor

Linda Hanssler
(212) 327-7714(opens in new window)
lhanssler@rockefeller.edu(opens in new window)

Readings

http://librarynews.rockefeller.edu/?p=3765(opens in new window)