From Development to Disease

Our lab is interested in understanding the genetic basis of kidney and urinary tract disease. Using a combination of mouse models, and cell lines we seek to understand how the kidneys and bladder develop during embryogenesis, and how adulthood diseases like chronic kidney disease, kidney stones, and bladder dysfunction can occur. We take a multi-disciplinary approach to our research combining bioinformatic analysis, in-vitro and in-vivo models, as well as working directly with patients for genetic testing and clinical trials. 

Kidney and Bladder Development

We have identified that the gene odd-skipped related 1 (Osr1) is crucial for the proper formation of the kidneys and bladder. Using mouse models we study how loss of Osr1 affects signalling pathways and other transcription factors during embryonic development of these organs. We combine bioinformatic analysis of bulk and single-cell RNA-sequencing as well as histological analysis to understand how these organs develop and what factors contribute to defects.

 

Kidney Stones and Tight Junctions

We study the role of the a family of tight junction proteins, Claudins, and their importance in normal kidney function and the formation of kidney stones. Through genetic association studies in kidney stone cohorts we have identified a number of claudin mutations that may result in the formation of kidney stones. We validate the effect of variants using cell lines. We are also working on a clinical trial for a novel natural treatment for kidney stones.

 

Chronic Kidney Disease and Bladder Dysfunction

We seek to understand the molecular mechanisms underlying bladder dysfunction particularly in patients who have suffered from traumatic spinal cord injury. Using mouse models we are testing novel therapeutic options for prevention of bladder dysfunction in patients with spinal cord injuries. We are also interested adulthood chronic kidney disease particularly in individuals exposed to arsenic during embryogenesis and adulthood. 

 

Kidney disease genetic association analysis

Using data from the UK Biobank as well as from patients at the McGill Urology Clinic, we are working to identify novel gene variant associations with chronic kidney disease and kidney stones. We are also interested in identifying potential genetic risk factors for congenital anomalies of the kidney and bladder.

 

Selected Publications

For full list: Pubmed, Google Scholar


2024


Chik C, Larroque AL, Zhuang Y, Feinstein S, Smith DL, Andonian S, Ryan AK, Jean-Claude B, Gupta IR. A Nuclear Magnetic Resonance (NMR)- and Mass Spectrometry (MS)-Based Saturation Kinetics Model of a Bryophyllum pinnatum Decoction as a Treatment for Kidney Stones. Int J Mol Sci. 2024 May 12;25(10):5280. doi: 10.3390/ijms25105280. PMID: 38791318


2023


Bonnet H, Isidro Alonso CA, Gupta IR. Submandibular gland epithelial development and the importance of junctions. Tissue Barriers. 2023 Oct 2;11(4):2161255. doi: 10.1080/21688370.2022.2161255. Epub 2022 Dec 28. PMID: 36576256



2022


La Charité-Harbec S, Lachance JB, Ryan AK, Gupta IR. Claudin-3 regulates luminal fluid accumulation in the developing chick lung. Differentiation. 2022 Mar-Apr;124:52-59. doi: 10.1016/j.diff.2022.01.003. Epub 2022 Feb 7. PMID: 35182852.


2021


Murugapoopathy V, Cammisotto PG, Mossa AH, Campeau L, Gupta IR. Osr1 Is Required for Mesenchymal Derivatives That Produce Collagen in the Bladder. Int J Mol Sci. 2021 Nov 17;22(22):12387. doi: 10.3390/ijms222212387. PMID: 34830270


2020


El Andalousi J, Khairallah H, Zhuang Y, Ryan AK, Gupta IR. Role of Claudins in Renal Branching Morphogenesis. Physiol Rep. 2020 Sep;8(18):e14492. doi: 10.14814/phy2.14492. PMID: 32975899


Murugapoopathy V, Gupta IR. A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT). Clin J Am Soc Nephrol. 2020 May 7;15(5):723-731. doi: 10.2215/CJN.12581019. Epub 2020 Mar 18. PMID: 32188635


Tokhmafshan F, El Andalousi J, Murugapoopathy V, Fillion ML, Campillo S, Capolicchio JP, Jednak R, El Sherbiny M, Turpin S, Schalkwijk J, Matsumoto KI, Brophy PD, Gbadegesin RA, Gupta IR. Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants. Can Urol Assoc J. 2020 Apr;14(4):E128-E136. doi: 10.5489/cuaj.6068. Epub 2019 Nov 5. PMID: 31702543


Murugapoopathy V, McCusker C, Gupta IR. The pathogenesis and management of renal scarring in children with vesicoureteric reflux and pyelonephritis. Pediatr Nephrol. 2020 Mar;35(3):349-357. doi: 10.1007/s00467-018-4187-9. Epub 2019 Mar 7. PMID: 30847554



 The Research Institute of the McGill University Health Center | McGill University

Department of Pediatrics | Child Health and Human Development Program

1001 Boulevard Decarie, Montreal, Quebec, Canada, H4A 3J1