|Phone:||Work +49 30-8445-1811, Fax +49 30--8445-1818|
|Organization:||Charite - Universitatsmedizin Berlin|
|Division:||Campus Benjamin Franklin|
|Department:||Institut fur Pharmakologie|
Dr. Walter Rosenthal is the director of the Forschungsinstitut für Molekulare Pharmakologie in Berlin, Germany. His involvement in Nephrogenic Diabetes Insipidus began by chance in 1991 with a visit from an old friend, Dr. Lutz Birnbaumer. During their visit Dr. Birnbaumer mentioned that his wife, Dr. Mariel Birnbaumer was working to clone the human V2 receptor. Dr. Rosenthal was, at that time, studying mechanisms of transmembrane signalling. The possibility of cloning the V2 receptor was of great interest to him since he was planning to look at signal transduction defects underlying diseases. He was soon working with Dr. Birnbaumer on the cloning project. Shortly after the V2 receptor gene was successfully cloned, Dr. Rosenthal identified the first mutation in the V2 receptor associated with NDI.
Visualization of the V2 receptor
expressed in COS cells
-laser confocal microscopy-
Dr. Rosenthal feels that the ability to make early, positive diagnosis of NDI has been a great help in management of the disease by reducing the chance of damage by untreated dehydration. Progress on treatment options has been considerable but, to date, is still largely confined to the laboratory and has yet to advance to a level where there is significant benefit for the NDI patient. As he explains, we know what goes wrong with the receptors that have mutations and are now ready to approach the problem on the molecular level. He expects the cell culture model recently developed in his laboratory to be very useful in the examination of the action of vasopressin and its reaction to experimental drug therapies.
Looking to the future, Dr. Rosenthal sees a potential for gene therapy. From a geneticists point of view NDI is a relatively simple disease, caused by a defect in a single gene, with a clear phenotype, and accessible locus for treatment. In theory it is a good candidate for gene therapy.
Dr. Rosenthal's path to medicine was almost as serendipitous as his entry into the area of NDI.
Forschungsinstitut für Molekulare
His young family fills his life outside of the laboratory. A son, 4, and daughters, 2 and 8 weeks, provide him with all the entertainment and exercise he needs for now!