Diseases: CAKUT (renal agenesis, hypoplasia, dysplasia, UPJ obstruction, VUR, PUV, Prune Belly Syndrome, Acute Kidney Injury (AKI), Chronic Kidney Disease (CKD), bladder pain, overactive bladder, UTI, interstitial cystitis, neurodegeneration, hereditary cancer (MEN2 syndrome), kidney cancer
My lab is interested in understanding the molecular and genetic regulation of the progenitors of the genitourinary and peripheral nervous systems and how they make complex structures such as the kidney and innervation network of the urinary tract. Our main hypothesis is that normal and abnormal function of genes regulating these events play a role in congenital malformations, repair and regeneration in adult acute and chronic diseases, and cancer. We use innovative genetically engineered mice, highly sophisticated and challenging surgical techniques and cutting edge technologies in whole exome/genome sequencing, single cell sequencing across different lineages and human iPSC models for generating normal and disease cell types of the kidneys and the neural crest to answer these questions. Ongoing projects: 1) How the collecting system arises from progenitors, 2) How the kidney connects with the bladder, 3) How to differentiate iPSCs into collecting system lineages. 4) Modeling of kidney malformations in a dish, 5) What are the molecular signals during kidney injury and repair, 6) What is the role of sensory and autonomic nervous system in kidney injury and bladder function, 7) What are the genomic variations that cause CAKUT and their relationship to prognosis in patients, 8) What is the cellular diversity and 3D relationships of different cell types in the kidney, ureter and the bladder.
Schematic depicting the overall organization of efforts to build a biorepository of clinical data and specimens to begin investigating the molecular and genomic alterations that underlie renal and related malformations in children. What are the most common genes or pathways disrupted in CAKUT? What mechanisms underlie CAKUT? Is there any prognostic significance of variants in CAKUT?