Physician Investigator (Cl) Nephrology, Mass General Research Institute

Assistant Professor of Medicine Harvard Medical School

Associate Physician Nephrology, Massachusetts General Hospital

MD Vanderbilt University School of Medicine 2007

fabry disease; gene expression regulation; inherited kidney disease; kidney; kidney disease; liver transplantation; potassium; potassium channels voltage-gated; serum sickness; urine biomarkers

In collaboration with the Laboratory of Molecular Medicine (part of Partners Healthcare) we have developed a genetic testing platform that uses a single test to screen for any inherited kidney disease. This test can detect known genetic changes that lead to kidney disease as well as detect novel variation in new genes. The test is ideal for patients in which there are multiple family members affected. We hope to use information from genetic sequencing to guide treatment and to provide new pathways for further research.

Our group also has an interest in Fabry disease. Currently we are looking for novel urine biomarkers that can suggest involvement of the kidney in Fabry disease. Such biomarkers may help to determine when to initiate therapy in individuals with Fabry.