The goal of Dr. Barua's research is to improve diagnostics and clinical outcomes for patients with chronic kidney disease (CKD). She is curently investigating genetic factors that influence CKD outcomes by exploring collected CKD DNA samples and the detailed clinical longitudinal information associated with them. Recent results from her lab include the following:
1. Type IV collagen (COL4A) defects in kidney disease. Dr. Barua discovered that type IV collagen gene mutations are the leading monogenic causes of Focal and Segmental Glomerulosclerosis (FSGS). This finding has changed practice with increased screening of these genes, which are now included in a FSGS gene panel at Prevention Genetics Molecular Diagnostics. The work has also been extensively disseminated by the American Society of Nephrology.
2. Pax2 mutations in adult FSGS. Dr. Barua has found that mutations in a transcription factor, Pax2, is responsible for up to 4% of FSGS in adults. Her team has developed an experimental model that recapitulates disease observed in patients.