THE SKELETAL DYSPLASIA REGISTRY - GENETICS AND THE PATHOGENESIS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 骨骼发育不良是一组异质性疾病，会导致不成比例的矮小和/或骨骼畸形。本研究涉及对骨骼发育不良的临床、遗传、形态、生化和分子特征的多学科研究。 国际骨骼发育不良登记处(ISDR)参与了对新的骨骼(骨和软骨)疾病的定义，是基因学界独一无二的国内和国际资源。研究的目的是收集有关骨骼疾病的信息，以便更好地了解这些情况，并帮助医生和患者进行诊断和治疗。这项研究还确定了新类型的骨骼疾病，它们的特征，它们的原因，并确定了它们是如何遗传的。 通过收集骨骼疾病患者的信息和材料，我们能够更好地了解这些疾病的自然历史，以及识别这些疾病的缺陷基因。在这一组中大约有200种不同的疾病，目前，这组疾病的许多基因还没有被识别和研究。 在ISDR中，我们通过几种方式进行研究。每个病例都要经过临床信息的回顾和X光的评估。此外，对于一部分病例，血液或组织(骨、皮肤、软骨等)收集和储存用于详细分析的样品。在某些情况下，这些材料与其他研究骨骼发育不良的研究人员共享。 我们可能每年在锡达斯-西奈招收大约100名受试者，并从全美各地额外招收400-500名受试者。骨骼疾病的受试者及其家人被邀请参加。没有排除标准--对象不会因为性别、年龄、种族或民族而被排除在外。 ISDR在骨骼疾病护理和研究的各个方面的长期参与和国家声誉使我们能够收集关于这些疾病的大量信息。我们认为，我们的努力对目前对骨骼发育不良的理解做出了很大贡献，并期待本研究下的努力将在可预见的未来继续对骨骼疾病的理解做出重大贡献。在未来，GCRC将继续协助收集这些分子研究的标本。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The skeletal dysplasias are a heterogeneous group of disorders which result in disproportionate short stature and/or skeletal deformities. This study involves a multidisciplinary investigation of the clinical, genetic, morphologic, biochemical and molecular characteristics of the skeletal dysplasias. The International Skeletal Dysplasia Registry (ISDR) is involved in defining new skeletal (bone and cartilage) disorders and has been a unique national and international resource in the genetics community. The study objective is to collect information about skeletal disorders in order to better understand these conditions and help doctors and patients with their diagnosis and treatment. The study also identifies new types of skeletal disorders, their characteristics, their causes and determines how they are inherited. By collecting information and material from individuals with skeletal disorders we are able to elucidate a better understanding of the natural history of these disorders, as well as identify the genes that are defective for many of these diseases. There are approximately 200 different disorders in this group and, at present, many of the genes for this group of disorders are yet to be identified and studied. In the ISDR we conduct research in several ways. Each case undergoes a review of clinical information, as well as an evaluation of the x-rays. In addition, for a subset of the cases, a blood or tissue (bone, skin, cartilage etc.) sample for detailed analysis is collected and stored. In some cases, these materials are shared with other researchers studying the skeletal dysplasias. We potentially enroll approximately 100 subjects a year at Cedars-Sinai, and an additional 400-500 subjects from throughout the United States. Subjects with skeletal disorders and their families are invited to participate. There are no exclusion criteria - subjects are not excluded based on gender, age, race or ethnicity. The longstanding involvement and national reputation of the ISDR in all aspects of care and research on skeletal disorders has allowed us to collect a great deal of information regarding these conditions. We feel that our efforts have contributed a great deal to the current understanding of the skeletal dysplasias and expect that the efforts under this study will continue to significantly contribute to the understanding of skeletal disorders for the foreseeable future. In the future the GCRC will continue to assist in specimen collection for these molecular studies.