SKELETAL DYSPLASIAS: INTERNATIONAL REGISTRY

骨骼发育不良：国际登记处

• 批准号: 7376010
• 负责人: DAVID L RIMOIN
• 金额: $ 17.59万
• 依托单位: LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-12-01 至 2006-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7376010
• 关键词: SKELETAL; DYSPLASIAS; INTERNATIONAL; REGISTRY

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.

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。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。本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，并帮助医生和患者进行诊断和治疗。该研究还确定了新类型的骨骼疾病，它们的特征，原因，并确定它们是如何遗传的。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史，并确定许多这些疾病的基因缺陷。在这一组中有大约200种不同的疾病，目前，这一组疾病的许多基因尚未被鉴定和研究。在国际减灾战略中，我们以几种方式进行研究。每个病例都经过临床信息审查以及X光片评估。此外，对于病例的子集，血液或组织（骨、皮肤、软骨等）可以在患者的血液或组织（骨、皮肤、软骨等）中进行。收集并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。我们每年可能在Cedars-Sinai招募大约100名受试者，另外还有来自美国各地的400-500名受试者。邀请骨骼疾病受试者及其家属参加。无排除标准-受试者不会因性别、年龄、人种或种族而被排除。ISDR长期参与骨骼疾病护理和研究的各个方面并享有全国声誉，使我们能够收集有关这些疾病的大量信息。我们认为，我们的努力为目前对骨骼发育不良的理解做出了很大贡献，并期望本研究的努力在可预见的未来将继续为骨骼疾病的理解做出重大贡献。今后，GCRC将继续协助这些分子研究的标本采集。