THE SKELETAL DYSPLASIA REGISTRY - GENETICS AND THE PATHOGENESIS

骨骼发育不良登记 - 遗传学和发病机制

• 批准号: 8174454
• 负责人: DAVID L RIMOIN
• 金额: $ 0.28万
• 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: 2009
• 资助国家: 美国
• 起止时间: 2009-12-01 至 2010-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8174454
• 关键词: Age; Biochemical; Blood; Bone Tissue; Caring; Cartilage; Cartilage Diseases; Characteristics; Clinical; Clinical Trials; Communities; Computer Retrieval of Information on Scientific Projects Database; Deformity; Diagnosis; Disease; Enrollment; Ethnic Origin; Evaluation; Exclusion Criteria; Family; Funding; Future; Gender; Genes; Genetic; Grant; Individual; Inherited; Institution; International; Molecular; Natural History; Pathogenesis; Patients; Race; Registries; Research; Research Personnel; Resources; Sampling; Skeletal bone; Skin; Source; United States; United States National Institutes of Health; base; genetic registry; multidisciplinary; sample collection; skeletal; skeletal disorder; skeletal dysplasia

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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 骨骼发育异常是一组异质性疾病，导致身材不成比例的短身材和/或骨骼畸形。 这项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。 国际骨骼发育不良注册中心（ISDR）参与了定义新的骨骼（骨骼和软骨）疾病，并且一直是遗传学界的独特国家和国际资源。该研究的目标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。该研究还确定了新型的骨骼疾病，它们的特征，其原因并确定它们的遗传方式。 通过从骨骼疾病的个体中收集信息和材料，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有缺陷的基因。该组中大约有200种不同的疾病，目前，该组疾病的许多基因尚未识别和研究。 在ISDR中，我们以多种方式进行研究。每种情况都会审查临床信息，以及对X射线的评估。另外，在一部分病例中，收集并存储了血液或组织（骨，皮肤，软骨等）样品进行详细分析。在某些情况下，这些材料与研究骨骼发育不良的其他研究人员共享。 我们可能每年在Cedars-Sinai招收大约100名受试者，以及来自美国各地的400-500名受试者。邀请患有骨骼疾病及其家人的受试者参加。没有排除标准 - 根据性别，年龄，种族或种族，不排除受试者。 ISDR在骨骼疾病的各个方面的长期参与和国家声誉使我们能够收集有关这些疾病的大量信息。我们认为，我们的努力为当前对骨骼发育不良的理解做出了很大的贡献，并期望这项研究所做的努力将继续有助于理解可预见的未来骨骼疾病。 将来，GCRC将继续协助收集这些分子研究。