Joan C. Han, MD

National Institute of Child Health and Human Development, NIH

Nominated by: International WAGR Syndrome Association

Dr. Han is the Principal Investigator for the WAGR Syndrome/11p Deletion Syndrome Study at NIH/NICHD.  This study is the first ever comprehensive clinical study of individuals with WAGR syndrome/11p Deletion syndrome.
 
WAGR syndrome has been documented in only a few hundred individuals in the world. "WAGR" is an acronym for the major features of the disorder, which include Wilms tumor, aniridia, genital and urinary tract abnormalities, and cognitive impairment (mental retardation).   There are many other conditions also associated with this disorder. 
 
The cause of WAGR syndrome is a deletion of a group of genes located on the short arm of chromosome 11.  Individuals with WAGR syndrome often have their own unique set of deleted genes in this area.  The goal of the WAGR Syndrome/11p Deletion Syndrome Study is to learn more about how the genes involved with WAGR syndrome affect those who have this condition.  But this study is also shedding light on the roles these genes may play in far larger populations.
 
For example, Dr. Han's research began with an investigation of obesity in WAGR syndrome.  This past year, her research findings were published in the New England Journal of Medicine:  Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome, N Engl J Med 2008;359:918-27.   This article was accompanied by an editorial which praised it not only for its findings, but also for demonstrating the great potential for rare disorders to provide insights on conditions affecting the general population.
 
In addition to learning more about the genetics of WAGR syndrome and about the conditions associated with this disorder, Dr. Han has demonstrated an extraordinary commitment to helping improve the life and health of each patient participating in the study.  Dr. Han also works closely with the International WAGR Syndrome Association to insure that people with this disorder and their families have the information they need to make critical decisions regarding diagnosis and treatment.  
 
Dr. Han's work is effectively increasing quality of life and giving real hope for the future to people with WAGR syndrome.  And by providing dramatic testament to the value and enormous potential of this kind of research, she is doing the same for people with other rare disorders as well.