Burnham Institute for Medical Research Professor Yu Yamaguchi, M.D., Ph.D., was recently awarded The Humanitarian Scientific Achievement Award by the MHE Research Foundation. The focus of the foundation is to find a cure for Multiple Hereditary Exostoses, a rare genetic bone disorder. The disorder causes people to grow exostoses (bone tumors) on their bones. MHE patients can also suffer from non-skeletal medical issues including mental and neurological issues. At this time, there is no treatment or cure. Surgery, physical therapy and pain management are currently the only options in management of the condition.
Mutations in a gene known as EXT1 cause MHE. Dr. Yamaguchi created a mouse model, in which the EXT1 gene can be experimentally disrupted in tissues and organs of interest. His research has provided insights into why MHE patients suffer from non-skeletal medical problems. Dr. Yamaguchi has recently shown that mutations in the EXT1 gene can cause dysfunction of nerve cells, providing a clue as to why MHE patients sometimes associate mental and neurological symptoms. Today, the mouse model is being used in more than 20 laboratories around the world, helping researchers explore the function of the EXT1 gene in a variety of organs and tissues.
“Dr. Yu Yamaguchi has expanded the frontiers of understanding of MHE,” said Sarah Ziegler, MHE Research Foundation Vice President. “These insights also suggest potential novel approaches that can be explored in order to make the dream of a treatment into a reality.” Ziegler is also the mother of a son with MHE.
A crystal plaque commemorating the award was presented to Dr. Yamaguchi during the Foundation's FUNTASIA Research Banquet held on September 30, 2007 in Brooklyn, New York. Dr. Yamaguchi was also presented citations and proclamations from U.S. Congress, New York State Senate, and the Borough of Brooklyn.
About Burnham Institute for Medical Research:
Burnham Institute for Medical Research conducts world-class collaborative research dedicated to finding cures for human disease, improving quality of life, and thus creating a legacy for its employees, partners, donors, and community. The La Jolla, California campus was established as a nonprofit, public benefit corporation in 1976 and is now home to three major centers: a National Cancer Institute-designated Cancer Center, the Del E. Webb Center for Neuroscience, Aging, and Stem Cell Research, and the Infectious and Inflammatory Disease Center. Burnham today employs nearly 800 people, ranks consistently among the world’s top 20 organizations for the impact of its research publications, and rates fourth among all research institutes in the United States for obtaining grant funds from the National Institutes of Health. In 2006, Burnham established a center for vascular mapping and bionanotechnology in Santa Barbara, California. Burnham is also establishing a campus at Lake Nona in Orlando, Florida that will focus on diabetes and obesity research and will expand the Institute’s drug discovery capabilities, employing over 300 people. For additional information about Burnham and to learn about ways to support its research, visit www.burnham.org.
For more information about The MHE Research Foundation, visit www.mheresearchfoundation.org.
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