Nussbaum receives LSA Medical Research Award
The room was filled with cheers and enthusiastic applause
when Kaye McSpadden, LSA Medical Research Chair, presented the LSA Medical
Research Award to Dr. Robert Nussbaum for his achievement in identifying
the enzyme deficiency in Lowe syndrome. The announcement was made at
the conclusion of Nussbaum's presentation at the 5th International Conference
in Anaheim in June, 1996.
In his presentation, Nussbaum had explained the recent discovery which had been made public a few months ago. In a paper published in the December 1995 issue of Human Molecular Genetics, Nussbaum and his NIH colleagues reported their discovery that the defective Lowe syndrome gene causes the deficiency of an enzyme called phosphatidylinositol 4,5-biphosphate 5 phosphatase. Heralded as the most significant discovery ever made on Lowe syndrome, the new finding has led to the first-ever definitive diagnostic technique. It may also lead to a prenatal diagnosis. Most importantly, however, the discovery is a crucial step towards a thorough understanding of the complicated metabolic processes of Lowe syndrome and the development of new treatments.
McSpadden said the award honored Nussbaum's "perseverance, dedication, and success." As LSA President Candy Smith handed Nussbaum the specially-made plaque, McSpadden added, "It may be a simple piece of wood and metal, but it carries with it all our heartfelt admiration, appreciation, and congratulations." Nussbaum said he felt honored to be the recipient of the award, and would like to accept it on behalf of his colleagues, a team of six researchers who have been working full-time on Lowe syndrome at the National Institutes of Health in Bethesda, Maryland. One of the members of the team, Sharon Suchy, Ph.D., was present at the conference.
Congratulations to Dr. Nussbaum and many thanks to all his fellow researchers!
OTB, Summer, 1996, v15:2
© Copyright 2000-2008, Lowe Syndrome Association, All Rights Reserved.