3RD MEETING ON HERITABLE DISORDERS OF CONNECTIVE TISSUE

描述（摘自申请人摘要）：“遗传性”的概念 结缔组织疾病"最初是由维克托A. McKusick认为，"一般性缺陷主要涉及连接词的一个成分， 组织-胶原弹性蛋白或粘多糖-一种在简单的 孟德尔式的。"这些疾病最初包括马凡氏综合征 Weill-Marchesani综合征，Ehlers-Danlos综合征，皮肤松弛， 成骨不全、弹性假黄瘤和软骨发育不良。 受这些疾病影响的器官包括皮肤、骨和软骨， 眼睛心脏和血管由于结缔组织的已知成分具有 因此，遗传性结缔组织疾病的概念也得到了极大的扩展。 组织.今天，大疱性表皮病（皮肤）、肌营养不良（骨骼 肌肉）和Alport综合征（肾）也可以被认为是遗传性的 结缔组织疾病。相反地， 生长因子，整合素和生长因子受体，以及转录 各种结缔组织遗传性疾病的因素传达了一个新的深度 对细胞与细胞外 这是"简单"结缔组织疾病的基础。联盟的 遗传性疾病、结缔组织和国立卫生研究院 曾主办过两次讲习班，第一次在1990年，第二次在1999年。 1995.这些讲习班的重点是审查研究的现状， 并确定未来研究的重要方向。一 在美国国立卫生研究院举行的第三次会议上， 结缔组织遗传性疾病联盟，被提议在4月， 2000.本次会议的重点将是结缔组织的发病机制 紊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， 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，特别是与外部调查人员的合作 结缔组织遗传性疾病领域，并确定 具有高度意义和成功潜力的研究。

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.