SKELETAL DYSPLASIAS: INTERNATIONAL REGISTRY

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。骨骼发育不良是一组异质性疾病，导致不成比例的身材矮小和/或骨骼畸形。本研究涉及骨骼发育不良的临床、遗传、形态学、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）参与定义新的骨骼（骨和软骨）疾病，并已成为遗传学界独特的国家和国际资源。这项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疾病，帮助医生和患者进行诊断和治疗。该研究还确定了新的骨骼疾病类型，它们的特征，原因，并确定了它们是如何遗传的。通过从患有骨骼疾病的个体收集信息和材料，我们能够更好地阐明这些疾病的自然史，并识别出许多这些疾病的缺陷基因。在这一群体中大约有200种不同的疾病，目前，这一群体的许多基因尚未被识别和研究。在ISDR中，我们以几种方式进行研究。每个病例都要经过临床资料的审查，以及对x光片的评估。此外，对于一部分病例，收集和储存用于详细分析的血液或组织（骨、皮肤、软骨等）样本。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。我们每年在西达斯-西奈招收大约100名受试者，另外还有400-500名来自美国各地的受试者。邀请骨骼疾病患者及其家属参加。没有排除标准——受试者不会因性别、年龄、种族或民族而被排除。ISDR在骨骼疾病护理和研究的各个方面的长期参与和全国声誉使我们能够收集大量关于这些疾病的信息。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的贡献，并期望在可预见的未来，本研究的努力将继续对骨骼疾病的理解做出重大贡献。未来，GCRC将继续协助这些分子研究的标本收集。

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.