Research

Genetic mechanisms in body weight regulation
Over 1000 extremely obese children and adolescents, 1400 of their parents and 500 underweight and normalweight controls have been ascertained to enable both association and linkage studies.  Additionally, 400 patients with either anorexia or bulimia nervosa were ascertained.  A genome scan for childhood and adolescent obesity has been completed, fine mapping in chromosomal regions of interest is ongoing.  Approximately 2.5% of our children harbor functionally relevant mutations in the melanocortin-4 receptor gene.  Collaborations with numerous local, national and international academic groups and to biotech companies have been established.