M. Paulina Ordonez, MD

Assistant Professor of Pediatrics

Dr. Paulina Ordonez is interested in using patient specific induced pluripotent stem cells (iPSC) to create models of disease. Her research focus is on Niemann Pick type C1 (NPC1), a progressive and lethal cholesterol lysosomal storage disease characterized by neuronal failure and various degrees of liver dysfunction. The Ordonez lab are currently exploring the underlying mechanisms and the contribution of these pathological phenotypes to the development of disease, and pursuing drug screening studies aimed at finding new therapies for NPC1 and related disorders.

Her lab is also generating iPSC lines from patients with alpha-1 antitrypsin deficiency (AAT). AAT deficiency is the most common genetic cause of liver disease in neonates and children. It is an inherited metabolic disorder in which mutations in the coding sequence of the serine protease inhibitor AAT, cause misfolding of the protein and prevent its export from the hepatocyte. This abnormal accumulation of the glycoprotein in hepatocytes results in programmed cell death, hepatic inflammation, fibrosis, and cirrhosis.