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Thomas Kitzler, MD

Award: KRESCENT New Investigator award
Institution: McGill University
Year: 2020-2023

Study title: A comprehensive approach to study genetic causes of chronic kidney disease

Thomas Kitzler is an Assistant Professor at the Department of Human Genetics at McGill University and a Clinical Geneticist with the Division of Medical Genetics at McGill University Health Centre. He has been recently appointed Junior Scientist to the Child Health and Human Development Program (Centre for Translational Biology) at the Research Institute of the McGill University Health Centre. Dr. Kitzler’s research focuses on the study of genetic causes of chronic kidney disease. His main focus is the development of novel prevention and treatment strategies by combining whole-exome sequencing information from patients with chronic kidney disease with CRISPR/Cas9 gene-editing technology in patient-derived cell- and zebrafish animal models. After graduating from the Medical University of Graz, Austria, he spent several years conducting both clinical and basic research in chronic kidney disease at the Renal Research Institute, New York and McGill University, Montreal. Following his medical residency training at McGill University Health Centre, he completed a two-year research fellowship in Nephrogenetics at Boston Children’s Hospital – Harvard Medical School before returning to Montreal. 

Lay Summary
Chronic kidney disease greatly affects the health of the general population and puts an enormous strain on the public health care system. One of 10 Canadians is affected and at risk of developing end-stage renal disease. In children around 20% of cases are believed to be genetic and in adults the estimate is around 10%. Genes are the basis and functional units of heredity and most of them act as instructions to make molecules called proteins. A genetic disease is any disease caused by an abnormality in the genetic makeup of an individual. These abnormalities are often compared to a spelling mistake in a sentence. If the spelling mistake occurs in a gene which carries the instructions for a protein that is required for kidney function it can cause a genetic kidney disease. Genetic kidney disease in children is particularly tragic and often presents with a relentless course towards complete loss of kidney function. Once kidney function is lost, the only available treatments are some form of dialysis (which is a procedure that filters toxins out of the blood) or kidney transplantation. Kidney transplant is the better choice, since patients have much better outcomes and a greater quality of life than with dialysis; unfortunately, there are not enough donor kidneys available. In 2017, more than 200 patients died while waiting for an organ transplant. This highlights the urgent need to early identify patients at risk of kidney disease and to develop new treatments to prevent complete kidney failure. 

Newly developed technologies, such as whole-exome sequencing, which analyses many hundreds to thousands of genes simultaneously, identified many new genetic causes of kidney disease. However, in many patients the diagnosis remains uncertain, since the effect of the spelling mistake on the protein function is often uncertain. Understanding the effect of a spelling mistake often requires testing of the protein function in cell experiments or animal models. Dr. Kitzler’s research program aims to improve the diagnosis of genetic kidney disease and to better understand their disease mechanisms. With newly available technology, we can manipulate genes in cells or animal models and directly study the effect of these spelling mistakes on protein function. The goal is to better understand the role of three newly identified kidney-disease genes but also discover further new genes by using whole-exome sequencing. He will then use cell- and animal models of kidney disease, such as zebrafish, to further detail how spelling mistakes in these genes can cause kidney disease. Eventually, he will use these cell and animal models to screen for new drug therapies.