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.
Recent advances in genome sequencing have provided fundamental insights into many diseases, enabling patient-targeted surveillance, therapy, prognosis, and counseling. While this led to widespread enthusiasm about the potential of genomics to transform clinical care, many challenges still need to be resolved before cost-effective clinical sequencing becomes routine. Gharavi’s lab has been investigating many aspects of these challenges, and when in 2019 The Center for Precision Medicine and Genomics (CPMG) was established under the leadership of Dr. Gharavi, the group joined its efforts to continue addressing challenges of genomic medicine. Through this tight fruitful collaboration, we continue genomic investigation of kidney disorders.
Vesicoureteral reflux (VUR), the retrograde flow of urine from the bladder towards the kidneys, caused by malfunction at the vesicoureteral junction is associated with progressive renal disease and is a common cause of febrile urinary tract infection (UTI) and pediatric kidney failure. VUR has a prevalence of 1-2% in European populations Familial aggregation, with reported occurrence rate of 27-51% among siblings and 66% among offspring of affected individuals, supports a hereditary basis.
Read more…With the broader introduction of genomic medicine in research and clinical care, an increasing number of persons are offered genetic testing. Many factors, including genetic literacy, may impact the utilization of genetic results by patients and their families. We developed a rapid, self-administered measure of genetic literacy, called Genetic Literacy Fast Test (GeneLiFT).
Read more…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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