Peter Kopp, MD Associate Professor Medicine Molecular genetics of thyroid and other endocrine disorders Curricula: Molecular Biology and Genetics E-mail:   p-kopp@northwestern.edu

Dr. Kopp's research focuses on various forms of thyroid disease. Principal areas of interests are the molecular genetics of congenital hypothyroidism and Pendred's syndrome. Pendred's syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter and impaired iodide organification. It is caused by mutations in the PDS (Pendred syndrome) gene that encodes pendrin, an anion transporter belonging to the solute carrier family 26A (SCL26A). 

Other areas of active research include the molecular genetics of endocrine diseases such as neurohypophyseal and nephrogenic diabetes insipidus, and the analysis of polymorphisms in genes involved in androgen metabolism in order to define determinants of steroid hormones and prostate cancer risk in men.

Research Topics
Functional characterization of pendrin
Molecular genetics of congenital hypothyroidism
Genetic factors determining androgen levels

Publications:

Gapstur SM, Gann PH, Kopp P, Colangelo L, Longcope C, Liu K 2002 Serum Androgen Concentrations in Young Men: A Longitudinal Analysis of Associations with Age, Obesity, and Race. : The CARDIA Male Hormone Study. Cancer Epidemiol Biomarkers Prev 11:1041-1047

Kopp P 2002 Perspective: genetic defects in the etiology of congenital hypothyroidism. Endocrinology 143:2019-24

Rutishauser J, Kopp P, Gaskill MB, Kotlar TJ, Robertson GL 2002 Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene. Eur J Endocrinol 146:649-56

Nguyen LQ, Arseven OK, Gerber H, Stein BS, Jameson JL, Kopp P 2002 Cloning of the cat TSH receptor and evidence against an autoimmune etiology of feline hyperthyroidism. Endocrinology 143:395-402

Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P 2001 A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab 86:3962-7

Soleimani M, Greeley T, Petrovic S, Wang Z, Amlal H, Kopp P, Burnham CE 2001 Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex. Am J Physiol Renal Physiol 280:F356-64