The Glycoproteinoses: Second International Workshop on Advances in Pathogenesis a

糖蛋白病：第二届发病机制进展国际研讨会

• 批准号: 7334552
• 负责人: Steven Upshaw Walkley
• 金额: $ 2.5万
• 依托单位: ALBERT EINSTEIN COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-07-01 至 2008-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7334552
• 关键词: Animal Model; Aspartylglucosaminuria; Attention; Brain; Brain Diseases; Cessation of life; Class; Defect; Development; Discipline; Disease; Educational workshop; Family; Fucosidosis; Functional disorder; Genetic; Glycoproteins; Hereditary Disease; Human; I-Cell Disease; Incidence; International; Live Birth; Mannosidase Deficiency Diseases; Minority; Mucopolysaccharidoses; Mutation Analysis; Myoclonus Cherry Red Spot Syndrome; Natural History; Neuronal Ceroid-Lipofuscinosis; Oligosaccharides; Pathogenesis; Process; Pseudo-Hurler Polydystrophy; Range; Rare Diseases; Research; Research Personnel; Scientist; Societies; Specialist; Sphingolipidoses; System; Type I Epithelial Receptor Cell; gene discovery; insight; symposium

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.

描述（由申请人提供）：溶酶体疾病包括近60种不同的遗传性疾病，大致分为鞘脂病、粘多糖病、神经元蜡样脂褐质病等。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最知名的遗传性脑部疾病之一。在理解某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，但其他疾病-最明显的是糖蛋白病或糖蛋白储存病-历史上受到的关注较少。包括α-甘露糖苷沉积症、β-甘露糖苷沉积症、岩藻糖苷沉积症、β-氨基葡萄糖尿症、辛德勒病、半乳糖唾液酸沉积症、唾液酸沉积症和相关疾病、粘脂沉积症II型（I-细胞病）、IIIA型（假性Hurler多营养不良）和IIIC型。这些疾病中的每一种的特征在于糖蛋白、寡糖和相关化合物的溶酶体加工缺陷，以及严重的多系统疾病和过早死亡。2004年第一次糖蛋白病国际研讨会由NINDS和ORD共同赞助，并与国际甘露糖苷中毒及相关疾病学会（ISMRD）主办的家庭会议一起组织。自这次会议以来，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开发方面，糖蛋白酶发生了重要的发展。第一次会议所产生的研究势头，导致了由ISMRD牵头的第二次研讨会的规划，并将于2007年7月26日至28日在密歇根州安阿伯与其家庭会议一起举行。糖蛋白病的国际专家已被邀请，并将加入来自世界各地的参与家庭，代表全方位的糖蛋白储存疾病。这项R13提案的目的是（1）加强新的研究人员、初级和少数民族科学家和临床医生以及相关学科的选定专家出席科学会议，（2）通过网播传播研讨会的会议记录。虽然糖蛋白病是本次会议的重点，但对治疗和发病机制的新见解也有望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，作为一个组代表了人类遗传疾病的最常见类别之一。在理解某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，但其他疾病-最明显的是糖蛋白储存疾病-历史上受到的关注较少。该组中的10种疾病包括α-甘露糖苷沉积症、岩藻糖苷沉积症、半乳糖唾液酸沉积症、I-细胞疾病等，每种疾病的特征在于糖蛋白的溶酶体加工缺陷，导致脑功能障碍和过早死亡。加强对糖蛋白酶的研究可以为理解和治疗这些疾病以及所有遗传性脑疾病提供重要突破。