Dr. Michael Rauchman (Washington University of St. Louis) shares information for families about kidney development in genetic conditions in this recorded webinar. In this presentation he gives an overview of different types of congenital anomalies that affect the kidney and urinary tract; describes clinical manifestations and treatments for these birth defects, and explain how they may be clinically silent and why it is important to identify them; and provides a brief description of how we study these disorders and how this research could impact patients in the future.
This recording may be of particular interest to families whose loved one with an ASXL-related disorder have recurrent urinary tract infections (UTIs), unexplained abnormalities in blood chemistry, or unexplained protein in urine on urinalysis.
Dr. Michael Rauchman is a nephrologist (kidney specialist) at the Washington University of St. Louis where he holds Professorships in Medicine (Nephrology), Developmental Biology & Pediatrics. His research focuses on understanding the molecular and genetic basis of mammalian kidney development, how disruption of specific pathways leads to abnormal development of this organ, and the relationship between genetic variants in humans and the development of future cardiovascular and renal disorders in humans. Dr. Rauchman has been studying kidney birth defects in genetic syndromes, including ASXL3/Bainbridge-Ropers Syndrome.
27 сен 2023
