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Thomas Kitzler, MD

Supervisor: Dr. Friedhelm Hildebrandt
Award: KRESCENT Fellowship
Institution: Boston Children’s Hospital – Harvard Medical School
Year: 2017-2020

Dr. Thomas Kitzler will complete his research fellowship under the supervision of Dr. Friedhelm Hildebrandt at Boston Children’s Hospital – Harvard Medical School. His project focuses on the discovery and characterization of novel kidney disease genes by means of whole-exome sequencing and zebrafish animal models. These models will then be used to screen for novel targeted therapies. Dr. Kitzler completed his medical residency at the Department of Medical Genetics at McGill University, where he was also involved in basic research in the field of nephrology. Dr. Kitzler obtained his degree at the Medical University of Graz, Austria.

Nephronophthisis (NPHP) is an autosomal-recessive cystic kidney disease and is the most frequent genetic cause of Chronic Kidney Disease (CKD) in the first three decades of life. It has been demonstrated in recent years that NPHP shows a high degree of genetic heterogeneity. Elucidating the underlying genetic and molecular pathomechanisms of hereditary kidney disease is paramount for identifying at-risk individuals and the development of novel targeted therapies to alter or hopefully even reverse disease progression.

Dr. Kitzler will characterize novel NPHP candidate genes. He will then use zebrafish models to screen for novel targeted therapies for genetic causes of kidney disease for which no treatment currently exists.

Dr. Friedhelm Hildebrandt at the Boston Children’s Hospital is a world leader at identifying new genes which, when altered, cause kidney disease. The goal of Dr. Kitzler’s project is to better understand the role of a recently identified kidney disease gene discovered in a family from Montreal. He will use Dr. Hildebrandt’s database of more than 1,500 families with unsolved cases of kidney disease to screen for other families with changes in this gene. To do this, he will use state-of-the-art technology such as whole-exome capture and next-generation sequencing. These methods allow us to look at a vast number of genes in an efficient manner. He will then use well-known animal models of nephronophthisis, such as zebrafish, to further detail how this gene causes kidney disease and screen for new therapies, hopefully leading to the development of new treatment options for genetic forms of kidney disease.