3RD MEETING ON HERITABLE DISORDERS OF CONNECTIVE TISSUE

描述(摘自申请者摘要)：“可遗传”的概念 “结缔组织疾病”最初是由维克托·A博士提出的。 McKusick认为，一般缺陷主要涉及连接词的一个元素 组织--胶原弹性蛋白或粘多糖--一种可在简单的 孟德尔式的方式。这些疾病最初包括马凡综合征 Weill-Marchesani综合征，Ehler-Danlos综合征，皮肤松弛， 成骨不全、弹性假性黄色瘤和软骨发育不良。 受这些疾病影响的器官包括皮肤、骨骼和软骨， 眼睛、心脏和血管。已知的结缔组织成分有 连接性遗传性疾病的概念戏剧性地扩大了 组织。今天的大疱性表皮松解症(皮肤)，肌肉营养不良(骨骼 肌肉)，Alport综合征(肾脏)也可以被认为是遗传的 结缔组织紊乱。相反，基因突变的证明 生长因子，整合素和生长因子受体，以及转录 结缔组织各种遗传性疾病的因素传达了一个新的深度 对细胞和细胞外的复杂相互作用的赞赏 基质是“简单”结缔组织疾病的基础。争取和平联盟 遗传性结缔组织疾病与美国国立卫生研究院 我赞助了前两次研讨会，第一次是在1990年，第二次是在 1995年。这些讲习班的重点是审查研究的现状。 并为今后的研究确定重要的方向。一个 第三次会议在美国国立卫生研究院举行，同样由 结缔组织遗传性疾病联盟，计划在4月份举行， 2000年。这次会议的焦点将是结缔组织的发病机制。 精神错乱。会议的目标将是激发广泛的、创造性的 思考突变是如何导致疾病的，整合当前 来自基质生物学所有潜在相关领域的信息，以促进 新的合作，特别是与来自直接部门以外的调查人员的合作 结缔组织遗传性疾病的区域，并确定 具有高意义和高成功潜力的研究。

DESCRIPTION (Taken from the applicants abstract): The concept of "heritable disorders of connective tissue" was initially developed by Dr. Victor A. McKusick as "generalized defects involving primarily one element of connective tissue--collagen elastin or mucopolysaccharide-a transmissible in a simple Mendelian manner." These disorders originally included the Marfan syndrome Weill-Marchesani syndrome, the Ehlers-Danlos syndromes, cutis laxa, osteogenesis imperfecta, pseudoxanthoma elasticum, and the chondrodysplasias. The organs affected by these disorders included skin, bone and cartilage, the eye, heart and blood vessels. As the known elements of connective tissue have expanded dramatically, so has the concept of heritable disorders of connective tissue. Today epidermolysis bullosa (skin), muscular dystrophies (skeletal muscle), and Alport syndrome (kidney) can also be regarded as heritable disorders of connective tissue. Conversely, the demonstration of mutations in growth factors, in integrin and growth factor receptors, and in transcription factors in various heritable disorders of connective tissue conveys a new depth of appreciation for the complex interactions between cells and extracellular matrix which underlie "simple" connective tissue disorders. The Coalition for Heritable Disorders the Connective Tissue and the National Institutes of Health have sponsored two previous workshops, the first in 1990 and the second in 1995. The focus of these workshops was to review the current status of research in the area and to identify important directions for research in the future. A third meeting at the National Institutes of Health, again cosponsored by the Coalition for Heritable Disorders of Connective Tissue, is proposed for April, 2000. The focus of this meeting will be on pathogenesis of connective tissue disorders. The goals of the meeting will be to stimulate broad, creative thinking about how mutations result in disease, to integrate current information from all potentially relevant areas of matrix biology, to foster new collaborations particularly with investigators from outside the immediate area of heritable disorders of connective tissue, and to identify areas of research with high significance and high potential for success.