Disorders of nuclear hormone synthesis and action: genetics and pathophysiology

Professor Chatterjee will explore the role in disease of nuclear hormone receptors, a class of proteins in cells that sense molecules including steroids and thyroid hormones. By studying the genetics of patients with conditions that affect the body’s hormone balance, Professor Chatterjee aims to find unknown causes of gene defects in three conditions: congenital hypothyroidism, resistance to thyroid hormone and peroxisome proliferator activated gamma (PPARγ)-mediated insulin resistance. Success in these studies would lead to better clinical diagnoses and potentially treatment for the disorders.