Human Glycosylation Disorders 2003

Burnham Institute For Medical Research, La Jolla CA

Investigators

Abstract

DESCRIPTION (provided by applicant): Twenty rare disorders result from defects in the synthesis and assembly of oligosaccharides common to all mammalian cells. In 1997 two causes of Congenital Disorders of Glycosylation (CDG) were known. By 2000, there were 7 which has now grown to 15. In addition, in 2002, rare forms of Muscular Dystrophy such as muscle-eye-brain disease, Walker-Warburg Syndrome and Fukiyama Muscular dystrophy were found to result from misglycosylation of alpha-dystroglycan. Hereditary Inclusion Body Myopathy Type II results from mutations in a critical gene for sialic acid biosynthesis, and Hereditary Multiple Exostosis is caused by mutations in heparan sulfate biosynthesis. In the United States, medical awareness of these disorders and the basic science is in its infancy, but growing. Glycobiology is a highly specialized field, which is seldom part of standard medical or biomedical graduate education programs. The goal of this 1-day meeting is to provide state-of-the-art presentations of basic science, model systems, and patient studies of these disorders to an audience of basic scientists and physician-scientists. Since this meeting immediately precedes the annual meeting of the Society for Glycobiology, it will increase the chances of recruiting glycobiologists to explore the various types of human glycosylation disorders.