molar pregnancies • fetal loss • gene identification • mechanisms of diseases • early human development
My research focuses on the identification of the genetic causes of early fetal loss in humans. Our current projects aim at the identification of new genes responsible for the causation of recurrent molar pregnancies and the elucidation of the molecular mechanisms responsible for their formation. Recurrent fetal loss is an understudied area in medicine and known genes that play causative roles in these conditions explain a small fraction of them. Therefore, identifying new genes for these conditions will improve our understanding of their molecular bases and will translate into a better patients managements and cost-saving on our health system.
Akoury E, Zhang L, Ao A, Slim R*. NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton. Hum Reprod. 2015 Jan;30(1):159-69 PMID: 25358348.
Nguyen NM, Zhang L, Reddy R, Déry C, Arseneau J, Cheung A, Surti U, Hoffner L, Seoud M, Zaatari G, Bagga R, Srinivasan R, Coullin P, Ao A, Slim R*. Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation. J Med Genet. 51(9):623-634, 2014 PMID: 25097207.
Messaed C, Akoury E, Djuric U, Zeng J, Saleh M, Gilbert L, Seoud M, Qureshi S, Slim R*. NLRP7 is required for normal cytokine secretion and co-localizes with the Golgi apparatus and the microtubule organizing center. J Biol Chem 286(50):43313-43323, 2011 PMID: 22025618.
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 18(5):888-897, 2009 PMID: 19066229.
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 PMID: 16462743.