null Rima Rozen, PhD, FRSC, FCAHS, FCCMG

Senior Scientist, RI-MUHC, Glen site

Child Health and Human Development Program

Centre for Translational Biology

Professor, Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University



genes • nutrients • birth defects • liver disease • cancer

Research Focus

My research focuses on genetic deficiencies in the metabolism of an important vitamin, folic acid. Disturbances in the body's handling of folic acid can lead to increased risk for a wide variety of disorders including birth defects (spina bifida or heart defects), fatty liver, colorectal cancer and brain dysfunction. My laboratory studies the mechanisms that lead to these complex traits with the aim of identification of biomarkers or novel therapeutic strategies.

Selected Publications

Click on Pubmed to see my current publications list

  • Christensen KEC, Deng L, Leung KY, Arning E, Bottiglieri T, Malysheva O, Caudill M, Krupenko N, Greene N, Jerome-Majewska L, MacKenzie R and Rozen R. A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development. Hum Molec Genet 18:3705-3719, 2013. PMID: 23704330.

  • Leclerc D, Lévesque N, Cao Y, Deng L, Wu Q, Powell J, Sapienza C and Rozen R. Genes with aberrant expression in murine preneoplastic intestine show epigenetic and expression changes in normal mucosa of colon cancer patients. Cancer Prevention Research 6: 1171-1181, 2013. PMID: 24169962.

  • Meadows DN, Pyzik M, Wu Q, Torre S, Gros P, Vidal SM and Rozen R. Increased resistance to malaria in mice with methylenetetrahydrofolate reductase (Mthfr) deficiency suggests a mechanism for selection of the MTHFR 677C>T (c.665C>T) variant. Hum Mutat 35:594-600, 2014. PMID: 24616178.

  • Jadavji NM, Bahous RH, Deng L, Malysheva O, Grand'Maison M, Bedell BJ, Caudill MA and Rozen R. Mouse model for deficiency of methionine synthase reductase exhibits short-term memory impairment and disturbances in brain choline metabolism. Biochem J 461:205-212, 2014. PMID: 24800750.

  • Christensen KE, Mikael LG, Leung K-Y, Levesque N, Deng L, Wu Q, Malysheva O, Best A, Caudill MA, Greene N and Rozen R. High folic acid consumption leads to pseudo-MTHFR deficiency, altered lipid metabolism and liver injury in mice. Am J Clin Nutr 101: 646-658, 2015. PMCID: PMC4340065.