|Phone:||Home +31 24-6774204, Work +31 24-3613946, Fax +31 24-3540525|
|Organization:||University Medical Centre Nijmegen|
|Department:||Department of Human Genetics|
P.O. Box 9101
NL-6500 HB Nijmegen
Nine Knoers is a clinical geneticist with the University Hospital of Nijmegen, in the Netherlands. In 1986 a suggestion by Prof. Leo Monnens to undertake a PhD study on NDI marked a turning point in her studies and professional career. What she thought would be a two year immersion in research on her way to a career as a pediatrician became her professional passion.
Dr. Knoers' PhD project to localize the NDI gene on the X-chromosome was successful. Finding the exact localization of the NDI gene was an important achievement which was used also by other NDI researchers in their search for the gene itself. More recently (1996), she was part of the Nijmegen group that identified the Aquaporin 2 gene as the cause of autosomal recessive NDI, a postreceptor defect.
Progress in disease management in NDI patients has been disappointing in Dr. Knoers' opinion. Combining Amiloride with Hydrochlorothiazide has proved effective in many patients in reducing urinary output and has fewer side effects than the earlier pairing of Indomethacin and Hydrochlorothiazide. But, she explains, this can't be called a real treatment, only a minimal easing of symptoms. She feels it would take gene therapy or something similar to really manage the disease.
Are there any projects that look promising for the future treatment of NDI patients? Dr. Knoers says that, in this period when the science of genetics is advancing at such a rapid rate, genetic manipulation is possible in the future. However, she emphasizes, the technology of genetics is moving much faster than our ability to solve the ethical problems endemic to this field. She feels that other possible
solutions should be explored first. One possibility is to develop hormones that would bind with the mutated vasopressin receptors. Because of the number of mutations involved with NDI this could be a huge task since each deficient receptor could, potentially, require its own unique hormone.
Dr. Knoers was born and raised in Nijmegen, a town about 50 miles Southeast of Amsterdam near the Netherland/German border. Her personal life centers around her family which includes her husband, a computer scientist, two daughters and newborn son. Music, either listening or playing classical guitar, is an important part of her life as well. She is also fond of sports, especially tennis.