null Mallory Downie, MD, PhD

Junior Scientist, RI-MUHC, 5252 de Maisonneuve site

Child Health and Human Development Program

Centre for Outcomes Research and Evaluation



genetics • bioinformatics • genomics • proteomics • pediatric nephrology

Research Focus

My research focuses on the identification of new genes and genetic risk factors in childhood kidney disease. I do this by performing genetic association studies such as genome-wide association studies and Mendelian randomization studies. My goal is to use human genetics to improve clinical care in nephrology.

Selected Publications

Click on Pubmed to see my current publications list

  • Downie ML, Gupta S, Voinescu C, Levine AP, Sadeghi-Alavijeh O, Dufek-Kamperis S, Cao J, Christian M, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Gbadegesin R, Parekh RS, Kleta R, Bockenhauer D, Stanescu HC, Gale DP. (2023). Common risk variants in AHI1 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney International Reports. 8(8):1562-1574.

  • Downie ML, Gupta S, Chan MMY, Sadeghi-Alavijeh O, Cao J, Parekh R, Bugarin Diz C, Bierzynska, Levine AP, Pepper RJ, Stanescu H, Saleem MA, Kleta R, Bockenhauer D, Koziell A, Gale DP. (2023). Shared genetic risk between different presentations of gene test-negative idiopathic nephrotic syndrome. Pediatric Nephrology. 38(6): 1793-1800.

  • Adi M, Ghanbari F, Downie ML, Hung A, Robinson-Cohen C, Manousaki D. (2023). Effects of 25 hydroxyvitamin D levels on renal function: a bidirectional Mendelian randomization study. The Journal of Clinical Endocrinology & Metabolism. 108(6): 1442-1451.

  • Downie ML, Gupta S, Tekman MC, Cheshire C, Arora S, Licht C, Robinson LA, Munoz M, Aris AM, Al Attrach I, Brenchley PE, Gale DP, Stanescu H, Bockenhauer D, Kleta R. (2021). Identificiation of a locus on the X-chromosome linked to familial membranous nephropathy. Kidney International Reports. 6(6): 1229-1676. PMID: 34169208.

  • Dufek-Kamperis S, Kleta R, Bockenhauer D, Gale D, Downie ML. (2021). Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood. Pediatric Nephrology. 36(8): 2165-2175. PMID: 33084934.