Fourth International MHE Research Conference

第四届国际MHE研究会议

• 批准号: 8399406
• 负责人: Maurizio Pacifici
• 金额: $ 3.3万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-08-01 至 2013-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8399406
• 关键词: Accounting; Affect; Animal Disease Models; Animal Model; Area; Basic Science; Biochemistry; Biological; Biological Process; Biology; Biomedical Research; Blood Vessels; Bone Diseases; Boston; Caring; Cartilaginous exostosis; Cells; Chemistry; Child; Chronic Cancer Pain; Clinical; Clinical Medicine; Clinical Sciences; Collaborations; Communities; Data; Deformity; Degenerative polyarthritis; Developmental Biology; Developmental Process; Discipline; Disease; EXT1 gene; EXT2 gene; Elements; Enzymatic Biochemistry; Epiphysial cartilage; Exostoses; Family; Fostering; Genes; Genetic; Glycobiology; Goals; Growth; Health; Heparitin Sulfate; Hereditary Disease; Hereditary Multiple Exostoses; Human; Human Genetics; Impairment; International; Laboratory Study; Lead; Life; Malignant - descriptor; Medicine; Motion; Mus; Nerve compression syndrome; Operative Surgical Procedures; Orthopedics; Pain; Palliative Care; Participant; Pathogenesis; Patients; Pennsylvania; Philadelphia; Physicians; Physiological Processes; Physiology; Proteoglycan; Psyche structure; Rare Diseases; Recruitment Activity; Research; Research Personnel; Role; Schedule; Scientist; Series; Skeletal Development; Sum; Symptoms; Tendon structure; Tissues; Universities; Update; Work; Wound Healing; Zebrafish; abstracting; chronic pain; design; drug development; drug discovery; early onset; experience; forging; glycosyltransferase; human disease; insight; interest; loss of function mutation; meetings; news; planetary Atmosphere; repaired; skeletal; skeletal disorder; skeletal dysplasia; symposium; translational medicine

DESCRIPTION (provided by applicant): Abstract Multiple Hereditary Exostoses (MHE) is an autosomal dominant disorder that affects about 1 in 50,000 children. MHE (also known as Hereditary Multiple Exostoses or Multiple Osteochondromas) is characterized by cartilaginous outgrowths called exostoses that develop adjacent to the growth plates of skeletal elements, impinge onto surrounding tissues and cause: compression of nerves and tendons with consequent pain and impairment of motion; chronic pain; skeletal deformities; and early onset osteoarthritis. They become malignant in about 2% of the patients. Current therapies are palliative, and patients struggle with pain and limited mobility and undergo multiple surgeries through life. MHE is caused by loss-of-function mutations in EXT1 and EXT2 that are responsible for heparan sulfate synthesis, and patients display varying degrees of heparan sulfate deficiency. Heparan sulfate chains regulate a significant number of critical physiologic processes, accounting for the multitude of symptoms and health problems from which MHE patients suffer throughout their life. Because of such complexity, the understanding of MHE and finding a cure require multifaceted approaches that involve genetics, enzymology, glycobiology, developmental biology, and orthopedics, and an exchange of ideas and the establishment of collaborative efforts among various disciplines. Hence, the key objective of the "Forth International MHE Research Conference" is to bring together physicians, physicians-scientists and scientists who study MHE and care for MHE patients and additional scientists who work in closely related fields, including skeletal development and growth, human genetic skeletal diseases, drug discovery, and mammalian and non-mammalian animal models of human diseases. In addition to being at the forefront of research in their fields, the invited speakers have diverse expertise and perspectives. Thus, the Conference will serve as a timely and vigorous forum for the exchange of the most recent data, will generate new ideas, approaches and hypotheses about the pathogenesis of MHE, and will promote further interactions amongst researchers in different fields. The Conference will be held at the In at Penn at the University of Pennsylvania in Philadelphia on November 1-4, 2012, will have eight sessions on MHE clinical manifestation and orthopaedics, human genetics, developmental biology, heparan sulfate chemistry, animal disease models and related bone diseases, and about 50 participants (including over 3o invited speakers and non-speaking discussants). 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 encompassing roles of heparan sulfate in human physiology, the Conference will have broad and far-reaching impact and relevance for both basic research and translational and clinical medicine. As importantly, it will provide a renewed sense of hope to patients and families alike that MHE is being actively studied and a cure will one day be found. PUBLIC HEALTH RELEVANCE: Narrative Multiple hereditary exostoses is a debilitating genetic disorder characterized by the formation of multiple bony protrusions that cause a significant number of symptoms and pathological consequences 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 by providing them with a highly focused forum to cultivate new ideas, foster cross-discipline collaborations, discover the pathogenesis of the disease and begin to envision possible ways to treat it.

描述（由申请人提供）：抽象的多个遗传性外遗体（MHE）是一种常染色体显性疾病，影响了50,000名儿童中的大约1个。 MHE（也称为遗传性多个外骨或多个骨软骨瘤）的特征在于软骨产物的生长，称为Exostoses，它们与骨骼元素的生长板相邻，撞击了周围的组织，并导致神经和肌腱的压缩，并带来疼痛和运动的疼痛和运动障碍；慢性疼痛；骨骼畸形；和早期发作骨关节炎。他们在约2％的患者中变得恶性。当前的疗法是姑息治疗的，患者因疼痛和流动性有限而挣扎，并在生活中进行多次手术。 MHE是由负责硫酸乙酰肝素合成的EXT1和EXT2的功能丧失突变引起的，患者表现出不同程度的硫酸乙酰肝素缺乏症。硫酸乙酰肝素链调节大量关键的生理过程，这是MHE患者一生中遭受的多种症状和健康问题。由于这种复杂性，对MHE的理解和找到治愈方法需要涉及遗传学，酶学，糖生物学，发育生物学和骨科的多方面方法，并建立了各个学科之间的思想和协作努力。因此，“ Forth International MHE研究会议”的主要目标是将研究MHE和护理的医生，医生 - 科学家和科学家聚集在一起，这些医师和护理MHE患者以及在紧密相关领域工作的其他科学家，包括骨骼发展和生长，包括人类遗传骨骼疾病，药物发现，药物发现以及哺乳动物和非哺乳动物动物模型的人类疾病。除了在其领域的研究最前沿外，受邀的演讲者还具有多样的专业知识和观点。因此，该会议将作为交换最新数据的及时而有力的论坛，将产生有关MHE发病机理的新思想，方法和假设，并将促进不同领域的研究人员之间的进一步互动。会议将在大学的宾夕法尼亚大学举行 2012年11月1日至4日，费城的宾夕法尼亚州将在MHE临床表现和骨科，人类遗传学，发育生物学，乙酰肝素化学，动物疾病模型和相关骨疾病以及大约50名参与者（包括3O受邀的演讲者和非讲话的讨论者）上进行八个会议。每个会议将有三到四位演讲者，他们将进行20分钟的演讲，然后进行10分钟的讨论。会议的格式，名册和规模旨在最大程度地提高非正式环境参与者之间的互动。由于硫酸乙酰肝素在人类生理学中的作用，会议将对基础研究，转化和临床医学产生广泛而深远的影响以及相关性。同样重要的是，它将为正在积极研究MHE的患者和家庭提供新的希望感，并有一天可以找到治愈。 公共卫生相关性：叙事多种遗传性遗传性遗传性是一种使人衰弱的遗传疾病，其特征是形成多种骨突起，引起大量症状和病理后果，本次会议旨在促进有关MHE以及研究这种疾病实验室的合作和协同作用的最新信息。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汇集在一起​​，并通过为他们提供一个非常专注的论坛来培养新思想，促进跨学科协作，从而开始疾病的病原体，并开始进行预期的方法。