Molecular Genetics and Mechanisms of Kidney Development and

Molecular Genetics and Mechanisms of
Kidney Development and Diseases
Sanjay Jain, M.D., Ph.D.
Dr. Jain obtained his Bachelor's degree in Genetics from
the University of California, Berkeley, California in 1990
and MD, PhD degrees from Northwestern University,
Illinois, Chicago in 1999. He came to the Washington
University School of Medicine in 1999 for Pathology
Residency. Dr. Jain is currently Associate Professor in the
Departments of Internal Medicine (Renal) and Pathology
and Immunology at the Washington University School of
Medicine in St. Louis. He is the Director of Kidney
Translational Research Core at the Renal Division.
Our goal is to decipher molecular and genetic mechanisms that regulate
development, function and interactions between the genitourinary and nervous
systems in disease and health. To this end we have used GFL-RET signaling as a
paradigm and delineated novel concepts in the specification of genitourinary and
nervous systems. RET is a receptor tyrosine kinase that is activated upon binding to
a glial cell line-derived neurotrophic factor (GDNF) family ligands and Gfrα (1-4)
co-receptors. Upon activation RET modulates key downstream signal transduction
pathways such as MAPK, PI3K and PLCgamma to regulate cell renewal, migration
and apoptosis. Our studies provided molecular basis for congenital defects such as
renal malformations, Hirschsprung disease (intestinal aganglionosis) and
development, maintenance and functioning of the autonomic and sensory nervous
systems. Today I will discuss our work that provides insights into: 1) how
deleterious variants cause congenital and adult urinary tract diseases using exome
sequencing, 2) RET’s role in patterning of the nephric duct and sculpting the ureterbladder junction, 3) RET-environment interactions that affect branching
morphogenesis and kidney repair.
【コーディネーター】神経分化・再生分野教授榎本秀樹
【主催】膜生物学・医学教育研究センター【連絡先】研究支援課研究企画係
E-mail:[email protected] ※事前申込みは不要です
先端医学トピックスの講義としても開講します
Tel:5195

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