Elena Torban, PhD

Research Focus: 

Our lab is interested in elucidating the role of the novel planar cell polarity (PCP) pathway in mammalian development and human disease. We focus on 3 projects: 1)The role of the planar cell polarity pathway in development of specialized kidney cells (podocytes) and in glomerular disease in humans; 2) The role of the planar cell polarity pathway in development of cilia and cilia functions in mammals; 3)The role of the novel PCP genes in mammalian development and disease including neural tube defects, cardiac anomalies and kidney malformations. We employ a wide range of techniques: genetic screening of human DNA samples, molecular biology, protein interactions, creation and analysis of the transgenic mice, tissue culture, immunochemistry and microcopy. Our ultimate goal is to better understand the pathogenetic mechanisms which underlie congenital diseases of brain and kidneys in humans.

Keywords: 
cell polarity, neural tube formation, kidney development and disease, genetic screening, mouse models of human diseases, biochemistry, mammalian development
Publications:
Torban E, Patenaude AM, Leclerc S, Rakowiecki S, Gauthier S, Andelfinger G, Epstein DJ, Gros P. Genetic interaction between Vangl1 and Vangl2 during neural tube formation and for planar cell polarity. PNAS, Mar 4;105(9):3449-3454, 2008.
Kibar Z, Torban E, McDearmid DR, Mathieu M, Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Pierre Drapeau P, Capra V, and Gros P.Mutations in Vangl1 associated with neural tube defects in humans, NEJM; 356(14):1432-1437, 2007.
Babayeva S, Zilber Y, Seo JH and Torban E. Planar cell polarity pathway regulates cell shape, actin rearrangement, motility and nephrin distribution in podocytes. American Journal of Physiology –renal Physiology, under revision, 2010.