Mathieu Lemaire

Administrative Assistant: Carla Santos, carla.santos@sickkids.ca, Phone: 416.813.7654 ext.201220 or ext.328903
 

Research Synopsis

he lab’s main aim is translational research that pertains to rare paediatric kidney diseases using genomic tools for gene discovery followed by careful functional dissection of candidate genes using cutting-edge microscopic, cell biology and biochemical methods.

The goal is to not only contribute to a better understanding of disease pathophysiology, but also aim to translate these findings into tangible changes in clinical care.

We have played a central role in the identification of the first non-complement gene that causes a recessive form of aHUS, diacylglycerol kinase epsilon. His laboratory continues to work on teasing out the mechanisms by which DGKE deficiency causes thrombosis restricted to small blood vessels of the kidneys. His team continues to do gene discovery on a variety of rare paediatric kidney diseases using whole-exome sequencing: functional work is on the way for yet another novel gene that causes complement-independent aHUS.