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York Pei, MD

The Kidney Foundation of Canada-NephCure Foundation Research Grant

York Pei, MD, FRCP(C), FACP, FASN, is a Professor of Medicine in the Division of Nephrology at the University of Toronto; a Senior Scientist at the Toronto General Hospital Research Institute, University Health Network; and the Director of the Centre for Innovative Management of Polycystic Kidney Disease, University Health Network.

Toronto, Canada

University of Toronto, Toronto, Canada

Lay Summary of the Project:

The goal of Dr. Pei’s research is to identify the causative factors for steroid sensitive (SS) and steroid resistant (SR) NS using a genetic approach and studying families with more than one member who has primary NS. Recent documentation of genes in families with members who have both SS-minimal change disease and SS-FSGS suggest that this is a rare recessive genetic disorder. Dr. Pei’s hypothesis is that there are different pathogenic pathways for SR- and SS FSGS that run in families, and that these are associated with different molecular mechanisms within the circulating T-cells and glomerular podocytes, respectively. SR-FSGS has been demonstrated to be associated with mutations of certain podocyte-specific proteins (NPHS2, ACTN4, CD2AP, TRPC6, PLCE1, INF2, and MYO1E), but the relationship of this familial syndrome to cases of SS-MCD/FSGS is still unclear. This grant will support three main aims: 1) to expand patient resources by collecting additional families with two or more individuals affected with SS-MCD/FSGS or SR-FSGS; 2) to identify disease genes for familial SS-MCD/FSGS by performing exome sequencing on selected patients from the study families focusing on specific ROH tracts of interest; and 3) to identify disease genes for familial SR-FSGS by performing genome-wide linkage scan and exome sequencing on selected patients. Clinical management of FSGS is currently limited by a gap of knowledge on the pathobiology of this heterogeneous collection of disorders. By identifying underlying genetic factors, Dr. Pei’s study has the potential to provide a foundation for developing better diagnostic tests and targeted therapies for both SS- and SR-FSGS.

 

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