The Third MHE Research Conference

第三届MHE研究会议

• 批准号: 7675755
• 负责人: YU YAMAGUCHI
• 金额: $ 3万
• 依托单位: SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-04-01 至 2010-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7675755
• 关键词: Animal Model; Biochemistry; Bone Diseases; Boston; Cartilage; Clinical; Collaborations; Development; Developmental Biology; Discipline; Disease; EXT1 gene; EXT2 gene; Enzymatic Biochemistry; Fostering; Glycobiology; Goals; Heparan Sulfate Biosynthesis; Heparitin Sulfate; Hereditary Disease; Hereditary Multiple Exostoses; Human; Human Genetics; Knockout Mice; Laboratory Study; Lead; Mutation; Orthopedics; Participant; Research; Role; Signal Pathway; Signal Transduction; Symptoms; bone; design; glycosyltransferase; meetings; morphogens; mouse model; skeletal; symposium

DESCRIPTION (provided by applicant): Multiple hereditary exostoses (MHE; also known as hereditary multiple exostoses or multiple osteochondromas) is a genetic disorder characterized by the development of multiple bony protrusions and an assortment of variable non-skeletal symptoms. It is caused by mutations of either EXT1 or EXT2, which jointly encode a glycosyltransferase essential for heparan sulfate biosynthesis. This conference aims to promote the exchange of the most current information regarding MHE and the collaboration and synergy among laboratories studying this disease. This goal will be accomplished by bringing together world experts in the fields of orthopedics, human genetics, developmental biology, glycobiology, and related human bone diseases, and providing them with a highly focused forum to cultivate new ideas and cross-discipline collaborations. The conference will be held at the Four Points by Sheraton Boston Logan Airport hotel on October 29-Nov 1, 2009, and will have about 40 participants (including 24-28 invited speakers and 12-16 non-speaking discussants). There will be eight sessions focusing on clinical manifestation and orthopedics, human genetics, developmental biology of bone and cartilage (two sessions), biochemistry and enzymology of heparan sulfate, studies using conditional knockout mouse models, studies using non-mammalian model animals, and related bone diseases. Each session will have three to four speakers who will present 20-minute talks followed by 10 minutes of discussion. The format, roster, and size of the meeting are designed to maximize interactions among participants in an informal setting. Because of the extensive role of heparan sulfate in various morphogen signaling pathways, it is expected that the conference will have an impact beyond the scope of MHE and hopefully lead to a broader understanding of genetic disorders caused by abnormal morphogen signaling.

描述(申请人提供)：多发性遗传性骨软骨病(MHE；也称为遗传性多发性骨软骨病或多发性骨软骨瘤)是一种遗传性疾病，其特征是发展成多发性骨突和各种不同的非骨骼症状。它是由EXT1或EXT2突变引起的，这两个突变共同编码硫酸乙酰肝素生物合成所必需的糖基转移酶。这次会议旨在促进关于MHE的最新信息的交流，以及研究这种疾病的实验室之间的合作和协同作用。这一目标将通过将骨科、人类遗传学、发育生物学、糖生物学和相关人类骨骼疾病领域的世界专家聚集在一起，并为他们提供一个高度集中的论坛来培养新想法和跨学科合作来实现。会议将于2009年10月29日至11月1日在波士顿洛根机场喜来登酒店的Four Points举行，约40人参加(包括24至28名特邀演讲者和12至16名非发言讨论者)。将有八个会议，重点是临床表现和整形外科，人类遗传学，骨和软骨的发育生物学(两个会议)，硫酸乙酰肝素的生物化学和酶学，使用条件基因敲除小鼠模型的研究，使用非哺乳动物模型动物的研究，以及相关的骨骼疾病。每堂课将有三到四位发言者，他们将发表20分钟的演讲，然后进行10分钟的讨论。会议的形式、花名册和规模旨在非正式环境下最大限度地促进参与者之间的互动。由于硫酸乙酰肝素在各种形态信号通路中的广泛作用，预计这次会议将产生超出MHE范围的影响，并有望导致对由异常形态信号引起的遗传疾病的更广泛的理解。