The Glycoproteinoses: Second International Workshop on Advances in Pathogenesis a

描述（由申请人提供）：溶酶体疾病包括近60种不同的遗传疾病，大致分为鞘脂质病、粘多糖病、神经元类脂褐质病等。虽然个别罕见，但总体发病率估计为1:7500活产，使溶酶体疾病比苯丙酮尿症更常见，苯丙酮尿症是最常见和众所周知的遗传性脑部疾病之一。在了解一些溶酶体疾病的发病机制和开发治疗方法方面取得了进展，但其他溶酶体疾病-最明显的是糖蛋白蛋白酶或糖蛋白储存病-历来受到的关注较少。包括a-甘露甘醇病、¿-甘露甘醇病、集中病、天冬氨酸糖氨基尿症、辛德勒病、半乳糖唾液中毒、唾液中毒及相关疾病、II型（i -细胞病）、IIIA型（假性hurler多营养不良）和IIIC型粘脂病。这些疾病的特点是溶酶体加工糖蛋白、低聚糖和相关化合物的缺陷，以及严重的多系统疾病和过早死亡。2004年关于糖蛋白酶的第一次国际研讨会由NINDS和ORD共同主办，并与由国际甘露糖病和相关疾病学会（ISMRD）主办的家庭会议一起组织。自这次会议以来，糖蛋白酶在治疗、基因发现和突变分析、自然史研究的开始和动物模型的发展方面取得了重要进展。第一次会议产生的研究势头促使ISMRD计划于2007年7月26日至28日在密歇根州安娜堡与其家庭会议一起召开第二次研讨会。已经邀请了糖蛋白疾病方面的国际专家，他们将加入来自世界各地的代表各种糖蛋白贮藏病的家庭。本R13提案的目的是(1)提高新研究者、初级和少数民族科学家、临床医生和相关学科的选定专家在科学会议上的参与度，以及(2)通过网络广播传播研讨会会议记录。虽然糖蛋白酶是本次会议的重点，但对治疗和发病机制的新见解也可以预期为其他溶酶体和遗传性脑疾病提供重要进展。溶酶体疾病包括近60种不同的罕见疾病，作为一个群体代表了最常见的一类人类遗传疾病。在了解一些溶酶体疾病的发病机制和开发治疗方法方面取得了进展，但其他溶酶体疾病-最明显的是糖蛋白储存病-历来受到的关注较少。这10种疾病包括甘露甘露病、聚焦病、半乳糖唾液病、i细胞病等，每一种疾病都以溶酶体糖蛋白加工缺陷为特征，导致脑功能障碍和过早死亡。加强对糖蛋白酶的研究不仅可以为这些疾病的认识和治疗提供重要的突破，而且可以为所有遗传性脑疾病的认识和治疗提供重要的突破。

DESCRIPTION (provided by applicant): 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.