NATURAL HISTORY OF RARE GENETIC STEROID DISORDERS

罕见遗传类固醇疾病的自然史

• 批准号: 7622821
• 负责人: MARIA I. NEW
• 金额: $ 49.06万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-08-01 至 2008-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7622821
• 关键词: Academic Medical Centers; Affect; Biological Preservation; Caring; Cessation of life; Clinical; Clinical Data; Clinical Research; Collaborations; Computer Retrieval of Information on Scientific Projects Database; Data Analyses; Databases; Defect; Development; Disease; Elements; Enrollment; Fertility; Funding; Gender; Genetic; Grant; Height; Hospitals; Individual; Institution; Knowledge; Laboratories; Life; Longitudinal Studies; Medical; Medical center; Meta-Analysis; Molecular Genetics; Mutation; Natural History; Patients; Prospective Studies; Quebec; Rare Diseases; Recording of previous events; Research; Research Personnel; Resources; Risk; Site; Source; Standards of Weights and Measures; Steroid biosynthesis; Steroids; Support Groups; Texas; Treatment outcome; United States National Institutes of Health; Universities; base; college; design; disease natural history; experience; novel; prenatal; scaffold

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. DESCRIPTION (provided by applicant): A consortium of investigators, institutions, and patient support groups will constitute a Rare Disease Clinical Research Network focused on a diverse group of disorders characterized by defects in steroidogenesis. We will study the longitudinal history of these rare disorders and determine the outcome of treatment on height, fertility and gender. Long-standing informal collaboration between investigators at Weill Medical College, Rockefeller University, Columbia University, the University of Texas Southwestern Medical Center, the University of Quebec, Hospital Debrosses (Lyons), and the Hospital das Clinicas da FMUSP (Sao Paulo) will facilitate the creation of a productive cooperative research network that draws on the extensive experience of each investigator. Clinical Research Centers at Weill, Rockefeller, and the University of Texas Southwestern Medical Center will participate. Each investigator in the consortium has followed a large group of patients with a specific genetic defect affecting steroid synthesis over many years, encompassing the natural history of these diseases from prenatal life to death. Creation of a storage and management database will constitute a scaffold for ongoing research, enabling the preservation and use of this large body of clinical data assembled by experts in each disorder. Moreover, design of templates for a standardized clinical description of these disorders will permit prospective studies which can offer open enrollment to affected individuals or individuals at risk. Our research group includes the investigators who have identified the molecular genetic defect for each disorder, where known, and who maintain laboratories dedicated to the identification of new mutations. The combination of clinical and molecular genetic information will raise the standard of medical care and may permit development of novel treatments based on detailed knowledge of the natural history and molecular genetic basis of these disorders. Important elements of our plan are (1) to establish the clinical research network which pools data from our sites in cooperation with the DTCC and analyzes this data, (2) to educate young investigators in the management and clinical research of steroid disorders, and (3) to strengthen our connections with patient support groups to enable individuals affected or at risk to have new kinds of input and access to optimal medical care

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。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 研究中心，而研究中心不一定是研究者所在的机构。 描述（由申请人提供）：由研究者、机构和患者支持小组组成的联盟将构成一个罕见病临床研究网络，重点关注以类固醇生成缺陷为特征的各种疾病。我们将研究这些罕见疾病的纵向病史，并确定身高，生育能力和性别的治疗结果。威尔医学院、洛克菲勒大学、哥伦比亚大学、得克萨斯大学西南医学中心、魁北克大学、Debroses医院（里昂）和FMUSP临床医院（圣保罗）的研究者之间的长期非正式合作将促进建立一个富有成效的合作研究网络，该网络借鉴了每位研究者的丰富经验。威尔、洛克菲勒和德克萨斯大学西南医学中心的临床研究中心将参与其中。该联盟的每一位研究人员都跟踪了一大批患有影响类固醇合成的特定遗传缺陷的患者多年，包括这些疾病从产前到死亡的自然史。存储和管理数据库的创建将为正在进行的研究提供一个框架，从而能够保存和使用由每种疾病的专家收集的大量临床数据。此外，这些疾病的标准化临床描述模板的设计将允许前瞻性研究，可以为受影响的个人或有风险的个人提供开放招募。我们的研究小组包括研究人员，他们已经确定了每种疾病的分子遗传缺陷，并保持实验室致力于识别新的突变。临床和分子遗传信息的结合将提高医疗保健的标准，并可能允许基于这些疾病的自然史和分子遗传基础的详细知识开发新的治疗方法。我们计划的重要内容是：（1）建立临床研究网络，与DTCC合作，汇集我们研究中心的数据，并分析这些数据;（2）教育年轻的研究人员进行类固醇疾病的管理和临床研究;以及（3）加强我们与患者支持团体的联系，使受影响或处于风险中的个人能够获得新的投入，并获得最佳的医疗服务。护理