Lysosomal disease encompasses nearly 60 different genetic disorders that are broadly classified as sphingolipidoses, mucopolysaccharidoses, neuronal ceroid lipofuscinoses, and others. While individually rare, overall incidence is estimated at 1:7500 live births, making lysosomal disease more frequent than phenylketonuria, one of the most common and well known genetic brain diseases. Progress has been made in understanding pathogenesis and developing therapies for some lysosomal diseases, but others - most notably the glycoproteinoses or glycoprotein storage diseases - have historically received less attention. Included here are a-mannosidosis, ?-mannosidosis, fucosidosis, aspartylglucosaminuria, Schindler disease, galactosialidosis, sialidosis, and the related diseases, mucolipidoses types II (I-Cell disease), IIIA (Pseudo-Hurler Polydystrophy) and IIIC. Each of these diseases is characterized by defects in lysosomal processing of glycoproteins, oligosaccharides and related compounds, and by severe multi-system disease and premature death. The first international workshop on the glycoproteinoses in 2004 was cosponsored by NINDS and ORD, and organized in concert with a family conference hosted by the International Society for Mannosidosis and Related Diseases (ISMRD). Since this meeting, important developments have occurred for the glycoproteinoses in terms of therapy, gene discovery and mutation analysis, initiation of natural history studies, and development of animal models. The research momentum generated by this first meeting has led to planning for a 2nd workshop spearheaded by the ISMRD and to be held in conjunction with its family conference in Ann Arbor, MI on July 26-28, 2007. International experts in the glycoproteinoses have been invited and will join participating families from around the world representing the full range of glycoprotein storage diseases.
The aims of this R13 proposal are (1) to enhance the presence at the scientific sessions of new investigators, junior and minority scientists and clinicians and selected specialists in related disciplines, and (2) to disseminate the workshop proceedings through webcasting. While the glycoproteinoses are the key focus of this meeting, new insights into therapy and pathogenesis can also be anticipated to provide important advances for other lysosomal and genetic brain diseases. Lysosomal disease encompasses nearly 60 different rare disorders that as a group represent one of the most common classes of human genetic disease. Progress has been made in understanding pathogenesis and developing therapies for some lysosomal diseases, but others - most notably the glycoprotein storage diseases - have historically received less attention. The 10 diseases in this group include a-mannosidosis, fucosidosis, galactosialidosis, I-Cell disease and so forth, with each characterized by defects in lysosomal processing of glycoproteins leading to brain dysfunction and premature death. Enhancement of research on the glycoproteinoses could provide important breakthroughs for the understanding and treatment of not only these diseases but for all genetic brain disorders. ? ? ?
