Imaging of mucosal tissue is used to understand the pathogenesis of IgA nephropathy. Find out more...
Our goal is to identify genes and biological pathways for the development of kidney failure. Our major discovery efforts are focused on the genetics of IgA nephropathy, the most common glomerulonephritis and the genetics of kidney and the urinary tract (CAKUT), the most common cause of kidney failure in children. In parallel, we study the applications of genomic medicine to clinical care for patients with kidney disease.
Kidney transplantation is the best treatment for end-stage kidney failure, but rejection by the recipient’s immune system remains a major problem. In collaboration with the Kiryluk lab, we studied whether genetic mismatch between donor and recipient can explain kidney transplant rejection.
Read more…Exome sequencing (ES) is quickly emerging as a first-line diagnostic tool in clinical medicine, but its utility has not been investigated for the majority of constitutional disorders in adults, including for chronic kidney disease (CKD).
Read more…In collaboration with the Sanna-Cherchi lab, we performed analysis of Copy number variants (CNV) 2,824 cases with Congenital anomalies of the kidney and urinary tract (CAKUT), which account for up to 50% of pediatric and 7% of adult end-stage kidney failure worldwide.
Read more…In the past few years, we have learned a lot about the genetics of kidney and urinary tract malformations. In this paper, we review recent advances in the field and discuss opportunities and challenges ahead.
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