Sanjay Jain, MD, PhD
Photo: Sanjay Jain

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Elected 2013

The major goal of Dr. Sanjay Jain’s laboratory is to delineate molecular and genetic mechanisms of biological redundancy, specificity, and interactions between the development and function of the nervous and urogenital systems in health and disease. They have used GDNF/RET receptor tyrosine kinase signaling as a paradigm and the laboratory mouse as a model system to decipher the roles of RET-activated downstream signaling pathways in vivo that are critical for the development and function of the peripheral nervous system, male reproductive system, kidneys, and the urinary tract. GDNF/RET signaling is implicated in stem cell renewal, repair after injury, prevention from acute injury to the nervous and urinary systems, sensory pain, neurodegenerative disease, neural crest tumors, Hirschsprung’s disease, and congenital renal anomalies. Renal malformations are the most common cause of renal failure in children and are associated with increased risk for diseases of the cardiovascular, musculoskeletal, and hematopoietic systems. Using traditional and next-generation exome sequencing, the Sanjay lab identified functional mutations in the GDNF/RET pathway in about 5% of children with renal malformations. Their current projects include investigating: 1) molecular regulation of neuronal patterning of the bladder and how this affects urothelial injury and regeneration; 2) roles of GFL/RET in acute and chronic pelvic pain; 3) novel and rare variants associated with renal malformations and chronic kidney disease in children; and 4) interactions of developmentally important genes and their environment in kidney injury and regeneration. Integrating molecular and genomic approaches with basic science, patient specimen, and clinical data based research will enable better understanding of the mechanisms underlying genitourinary diseases.