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Ashish Deshwar

Title: Staff Physician, Division of Clinical & Metabolic Genetics
Designations: MD, PhD, FRCPC
Phone: 416-813-7654 x309010
Alternate Contact Name: Michelle Turpin
Alternate Phone: 416-813-7654 x309426
Alternate Email:
U of T Positions: Assistant Professor, Department of Paediatrics

Hospital Positions

Staff Physician
Division of Clinical & Metabolic Genetics

Research Positions

Scientist-Track Investigator
Developmental and Stem Cell Biology


Dr. Deshwar was born in Regina, Saskatchewan before moving to Calgary, Alberta later in life where he stayed to complete an honours degree in Zoology at the University of Calgary. It was here that he discovered his passion for developmental biology and genetics. He then moved to Toronto to complete the combined MD/PhD program at the University of Toronto. His PhD was mentored by Dr. Ian Scott at SickKids, focusing on delineating pathways that lead to cardiac progenitor specification in the zebrafish embryo.

After completing his MD/PhD, he pursued the five-year Medical Genetics and Genomics residency program also at U of T. During his clinical training, Ashish joined Dr. Jim Dowling’s laboratory at SickKids as a postdoctoral fellow, where his focus was on delineating novel mendelian diseases, developing and applying RNA sequencing as a diagnostic tool, and the study of genetic liver disorders. He also completed a visiting fellowship at Imperial College in London during this time where he developed skills in human iPSC-based models of liver disease.


The Deshwar lab’s overall theme is centered around exploiting the spontaneous variation seen in rare genetic diseases for the advancement of human health. This includes the study of rare genetic liver disorders with the aim of identifying both mechanisms of disease and therapeutic strategies that can be applied to the broader population.

The lab’s other primary areas of interest are in leveraging disease models for the discovery of novel genetic disorders and expanding the diagnostic tool kit for genetic disease. The Deshwar lab utilizes both the zebrafish model system and human iPSC derived cells as complementary in vivo and in vitro systems respectively.

Education and experience

  • 2022: Academic Visitor, Imperial College London, London, England
  • 2018–2023: Medical Genetics and Genomics Residency, University of Toronto, Toronto, Canada
  • 2010–2016: Doctor of Philosophy in Molecular Genetics, University of Toronto, Toronto, Canada
  • 2009–2018: Doctor of Medicine (Combined MD/PhD Program), University of Toronto, Toronto, Canada
  • 2005–2009: B.Sc. Honours in Zoology, University of Calgary, Calgary, Canada


  • 2019: Charles J. Epstein Award Finalist – American Society of Human Genetics, Houston, USA
  • 2012–2015: Vanier Canada Graduate Scholarship, Toronto, Canada
  • 2009: Lieutenant Governor’s Gold Medal, University of Calgary, Calgary, Canada


  1. Deshwar, A. R.*, Cytrynbaum, C.*, Murthy, H., Zon, J., Chitayat, D., Volpatti, J., Newbury-Ecob, R., Ellard, S., Allen, H. L., Yu, E. P., Noche, R., Walker, S., Scherer, S. W., Mahida, S., Elitt, C. M., Nicolas, G., Goldenberg, A., Saugier-Veber, P., Lecoquierre, F., Dowling, J.J., & Weksberg, R. (2023). Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. Brain, 146(6), 2285–2297.
  2. Deshwar, A. R.*, Yuki, K. E.*, Hou, H.*, Liang, Y., Khan, T., Celik, A., Ramani, A., Mendoza-Londono, R., Marshall, C. R., Brudno, M., Shlien, A., Meyn, M. S., Hayeems, R. Z., McKinlay, B. J., Klentrou, P., Wilson, M. D., Kyriakopoulou, L., Costain, G., & Dowling, J. J. (2023). Trio RNA sequencing in a cohort of medically complex children. American Journal of Human Genetics, 110(5), 895–900.
  3. Karolczak, S.*, Deshwar, A.R.*, Aristegui, E., Kamath, B.M., Lawlor, M.W., Androletti, G., Volpatti, J., & Dowling, J.J. (2023). Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. Journal of Clinical Investigation. In Press.
  4. Priestley, J. R. C.*, Deshwar, A. R.*, Murthy, H., D’Agostino, M. D., Dupuis, L., Gangaram, B., Gray, C., Jobling, R., Pannia, E., Platzer, K., Prescott, K., Redman, M., Rippert, A. L., Rosenfeld, J. A., Scott, D. A., Wang, Y. W., Schmederer, Z., Dalal, A., Sarma, A. S., … Bhoj, E. J. (2023). Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum. Genetics in Medicine, 25(8), 100863.
  5. Deshwar, A. R., Chng, S. C., Ho, L., Reversade, B., & Scott, I. C. (2016). The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development. ELife, 5(April 2016).

*denotes equal contribution

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