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null Mallory L. Downie, MD, PhD, FRCP(C)

Junior Scientist, RI-MUHC, 5252 de Maisonneuve site

Child Health and Human Development Program

Centre for Outcomes Research and Evaluation

Assistant Professor, Department of Pediatrics, Faculty of Medicine and Health Sciences, McGill University

Division of Nephrology, MUHC

 

Keywords

genetics • genetic epidemiology • bioinformatics • genomics • proteomics • pediatric nephrology

Research Focus

My research focuses on the identification of new genes and genetic risk factors in childhood kidney disease. To do this, I use my in-house genetic database of childhood kidney diseases, large publicly available population-sized biobanks, biostatistical tools like genome-wide association studies, and causal inference methods like Mendelian randomization. My goal is to use human genetics to improve clinical care in nephrology.

Selected Publications

Click on Pubmed to see my current publications list

  • Heydari D, Langlois S, Norouzi M, Myette RL, Samuel S, Zhou S, Takano T, Butler-Laporte G, Downie ML. (2026). Proteome-wide Mendelian randomization identifies APOM and TNXB as actionable mediators of steroid sensitive nephrotic syndrome. Pediatric Nephrology. 41(9):3011-3022. PMID: 41961272.

  • Voinescu CD, Mozere M, Genovese G, Downie ML, Gupta S, Gale DP, Bockenhauer D, Kleta R, Arcos-Burgos M, Stanescu HC. (2024). A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy. Kidney International. 105(4): 791-798. PMID: 38367960.

  • 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. PMID: 37547536.

  • 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. PMID: 36357634.

  • 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.