Third International Scientific Workshop on Glycoproteinoses

Greenwood Genetic Center, Greenwood SC

Investigators

Abstract

DESCRIPTION (provided by applicant): The glycoprotein storage disorders are inherited metabolic conditions that cause progressive decline in mental and physical abilities and lead to early death. The diseases are aspartylglucosaminuria, fucosidosis, galactosialidosis, alphamannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis IIII, Schindler disease, and sialidosis. These diseases are neither famous nor infamous. They are collectively and individually underrepresented in patient support groups, case reports in the medical literature, and in basic and translational research. A goal of the Third International Workshop of Glycoproteinoses scientific meeting is to bring together experts who approach these conditions from different fields. Lysosomal disease research is no longer the purview of enzymologists. The geneticist who studies the neurodegeneration associated with Alzheimer's disease, the glycobiologist interested in cartilage development in zebrafish, and the pharmacologist who studies proteomics are all lysosomal disease researchers. They are unlikely to cross paths at another scientific meeting. Although metabolic diseases, including lysosomal disorders, are topics of discussion at variety of national and international meetings, only the International Workshop on Glycoproteinoses is dedicated to these disorders.