Awardees

Supervisor: Dr. Richard P. Lifton
Award: KRESCENT Fellowship
Institution: Yale School of Medicine, Howard Hughes Medical Institute
Year: 2010-2013

Dr. Mathieu Lemaire is currently pursuing a Ph.D. at Yale in the laboratory of Dr. Richard Lifton (Investigative Medicine Program). He received his M.D. from McGill in 2004 and completed his pediatric nephrology training at Sick Kids (Toronto) in 2009. His project will focus on Dent’s disease: a genetic disease of the proximal tubule. The proximal tubule is one of the most important parts of the kidney’s filtration system, as it plays a key role in reabsorbing vital components such as sodium and other ions, water, glucose, and amino acids back into the blood. When the proximal tubule is unable to do this, patients become very sick because the body is unable to retain these vital elements. Unfortunately, genetic diseases of the proximal tubule are severe and never go away. Two genes have been identified in the development of Dent’s disease: however, there is a large group of people who have a disease that looks exactly like Dent’s disease but who do not have a mutation of these two genes. This suggests it is likely other genes are involved in Dent’s disease.

Dr. Lifton’s laboratory has established an international network to study Dent’s disease. Dr. Lemaire will use cutting-edge genomic technology known as whole exome capture to make a snapshot of nearly all the human genes at once in order to identify the genes involved in Dent’s disease. This project represents the first time this technology will be used on a large group of patients that are not related to each other. Finding novel disease-causing genes for Dent’s disease will have important diagnostic implications for these patients and may suggest new therapies, while also furthering our general understanding of proximal tubule function.