Rima Slim, Ph.D.
Human Reproduction and Development
The research activities of my group are aimed at understanding the molecular mechanisms responsible for hydatidiform mole and reproductive wastage in humans. A hydatidiform mole is an abnormal human pregnancy with no embryo. The sporadic form of this condition occurs in 1 in every 1500 pregnancies in Western countries, but at a higher frequency in other parts of the World. By analyzing rare familial cases, we mapped and identified a maternal defective gene, NLRP7, responsible for this condition. NLRP7 is a member of the CATERPILLER protein family with roles in auto-inflammation, pathogen-induced inflammation, and apoptosis. Our current research addresses the roles of NLRP7 in moles and recurrent reproductive wastage and the identification of additional genes for these conditions.
- Slim R*, Bagga R, Chebaro W, Srinivasan R, Agarwal N. A strong founder effect for two NLRP7 mutations in the Indian population. Clin. Genet. 76 (3):292-295, 2009.
- Deveault C, Qian J, Chebaro W, Ao A, Gilbert L, Mehio A, Khan R, Tan SL, Wischmeijer A, Coullin P, Xie X, Slim R*. NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. Hum Mol Genet Hum Mol Genet 18(5):888-97, 2009.
- Slim R and Mehio A. The genetics of hydatidiform moles: new lights on an ancient disease. Clin Genet. 2007, 71:25-34.
- Djuric U, El-Maarri O, Lamb B, Kuick R, Seoud M, Coullin P, Oldenburg J, Hanash S, Slim R. Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. Hum Genet, 120(3):390-5, 2006
- Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau G, Slim R. Mutations in NALP7, a maternal effect gene, result in recurrent hydatidiform moles and reproductive wastage in humans. Nature Genet 38(3): 300-302, 2006.
Hydatidiform moles, miscarriages, infertility, reproductive wastage, positional cloning, genetics of reproduction, imprinted genes,