Professor - Emeritus
Lab Phone:(773) 702-6939
B.Sc. Hon. (Biochemistry) University of Montreal, Quebec, Canada;
M.D., C.M., McGill University, Montreal, Quebec, Canada
An integrated program of clinical and laboratory investigation with the purpose of identifying and characterizing human genetic errors causing defects of thyroid gland development and hormone regulation, synthesis, transport and action. Central to this program is the availability of patient material for clinical studies and laboratory support to identify the gene defects responsible for the in vivo observations. Abnormal gene products are characterized at the molecular level and animal models are generated for in-depth analysis of the phenotype. The ultimate objective is the understanding of both pathophysiology and normal physiological processes. Some of the research involves populations with high prevalence of inborn errors of the thyroid.