null Rima Slim, PhD
genetics of pregnancy loss • molar pregnancies • fetal loss • gene identification • mechanisms of diseases • early human development
My research work is focused on the genetics of various forms of fetal loss. I started my career on the genetic causes of molar pregnancies, a particular form of abnormal human pregnancies with no embryos, and identified its first and major gene, NLRP7. I also linked this condition to mutations in two other genes, NLRP5 and PADI6. Recently, with my group, I identified three additional genes, MEI1, TOP6BL, and REC114, responsible for recurrent moles. While NLRP7 is responsible for diploid biparental molar pregnancies, those caused by defects in MEI1, TOP6BL, and REC114, are androgenetic. With my collaborators, I used a mouse model for one of the identified genes and modeled how androgenetic conceptions form and identified a novel meiotic abnormality at their origin. The work of my group contributed significantly to current understanding of recurrent moles and I am currently expanding my research interests to the genetics of recurrent miscarriages.
Rezaei M, Buckett W, Bareke E, Surti U, Majewski J, Slim R*. A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I. J Med Genet May 21;jmedgenet-2021-107875. doi: 10.1136/jmedgenet-2021-107875.
Khawajkie Y, Mechtouf N, Nguyen NMP, Rahimi R, Breguet M, Arseneau J, Ronnett BM, Hoffner L, Lazure F, Arnaud M, Peers F, Tan L, Abu Rafea B, Aguinagua M, Horowitz NS, Ao A, Tan SL, Brown R, Buckett W, Surti U, Hovanes K, Sahoo T, Sauthier P, Slim R. Comprehensive Analysis of 204 Sporadic Hydatidiform Moles: Revisiting Risk Factors and their Correlations with the Molar Genotypes. Mod Pathol, 2019 Dec 19. doi: 10.1038/s41379-019-0432-4.
Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Bagga R, Sahin FI, Mahadevan S, Osmond M, Breguet M, Rahimi K, Lapensee L, Hovanes K, Srinivasan R, Van den Veyver IB, Sahoo T, Ao A Majewski J, Taketo T, Slim R. (2018). Causative genes and mechanism of androgenetic hydatidiform moles. Am J Hum Genet 103 (5):740-75. doi: 10.1016/j.ajhg.2018.10.007.
Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, Jagadeesh S, Solmaz AE, Aguinaga M, Hemida R, Harma MI, Rittore C, Rahimi K, Arseneau J, Hovanes K, Clisham R, Lenzi T, Scurry B, Addor M-C, Bagga R, Girardet-Nendaz G, Finci V, Poke G, Grimes L, Gregersen N, York K, Bolze P-A, Patel C, Mozdarani H, Puechberty J, Scotchie J, Fardaei M, Harma M, Gardner RJM, Sahoo T, Dudding-Byth T, Srinivasan R, Sauthier P, Slim R*. The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients. Mod Pathol. 2018 Feb 20. doi: 10.1038/s41379-018-0031-9.
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.