Division of Nephrology
Cure Lab Publications
GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing. June 2021.
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), which will allow future research to efficiently assess the role of genetic literacy on the clinical impact of genetic testing.
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. We conducted the largest VUR copy number variant analysis (CNV) and genome-wide association study (GWAS) to-date, accounting for multiple modes of inheritance and sex- specific effects in VUR. Our dataset included participants from major national cohorts such as RIVUR and CKiD.
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.
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), which collectively affects more than 1 in 10 individuals globally. Thus, we performed ES in a combined cohort of 3,315 ethnically diverse patients with all-cause CKD, 91.6% of whom were adults, reflecting the demographics of the greater CKD patient population.