Mariel Birnbaumer

Title: PhD
Phone: Work (919) 541-1433, Fax (919) 541-0500
Organization: National Institute of Environmental Health Sciences
Division: Division of Intramural Research
Department: Environmental Biology Program
Address: Laboratory of Signal Transduction 111a Alexander Drive P.O. Box 12233
Research Triangle Park, NC 27709
United States

Dr. Mariel Birnbaumer
Dr. Birnbaumer is an Independent Investigator in the Laboratory of Signal Transduction at the National Institute of Environmental Health Sciences, a branch of the National Institutes of Health. She will continue her research on receptor signaling at the NIEHS. The Institute has a vigorous program of Intramural and Extramural Research studying normal cellular signaling and seeking to identify the disturbances in signaling caused by environmental agents. A well recognized expert in vasopressin and its mechanism of action, she has been a guest speaker at conferences in the United States, Belgium, Switzerland and Japan. Her work on V2R mutations is funded by a grant from the National Institute of Health.

National Institute of Environmental Health Sciences

Dr. Birnbaumer has always been interested in biomedical research and began her career by obtaining a degree in Biochemistry. Her specific interest in NDI began in l987 when she isolated the cell line that expresses the V2 vasopressin receptor. Dr. Birnbaumer developed a novel cloning technique in which she transfected human genomic DNA into naïve cells, isolated transformed cell clones and analyzed them for appearance of a new function, in her case of a hormone receptor that would stimulate cAMP accumulation by activation of the Gs/adenylyl cyclase system. The gene isolated was the one encoding the V2 receptor that provided a valuable tool with which researchers have successfully identified dozens of mutations, each responsible for a slightly different form of NDI.


V2R Mutations in X-linked Recessive NDI

The future for NDI patients is looking brighter, Dr. Birnbaumer feels. The ability to perform prenatal or neonatal diagnostics provides a great benefit by identifying babies at risk without having to wait for potentially damaging symptoms to appear. While a cure for NDI is not on the immediate horizon, there are several therapeutic approaches that hold promise. She anticipates that, "diagnostic and improved drug treatments will be effective to help the affected individual to handle large urinary volumes and the lack of reabsorption of water in the kidney." Another interesting possibility lies in finding a way to promote an increase in permeability of water in the collecting duct using a mechanism other than the ADH receptor. Dr. Birnbaumer is a native of Argentina and obtained her Ph.D. from the University of Buenos Aires. While her professional life revolves around the investigation of the biochemistry of receptor action, her personal life is filled with music which she uses for relaxation. She is a self-proclaimed opera fanatic, attending all the performances she can. Her home is shared with her husband, also a Biochemical researcher at UCLA, and their cats.

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