A Vital tool for the Study of DBA: The Diamond Blackfan Anemia Registry

DBA 学习的重要工具：Diamond Blackfan 贫血登记

• 批准号: 9267504
• 负责人: Jeffrey M Lipton
• 金额: $ 42.1万
• 依托单位: FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-09-30 至 2019-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9267504
• 关键词: Adrenal Cortex Hormones; Adverse effects; Affect; Age; Algorithms; Anemia; Biogenesis; Biological; Biology; Blood Cells; Cell physiology; Clinical; Clinical Research; Clinical Trials; Colon Carcinoma; Complex; Conceptions; Conduct Clinical Trials; Congenital Abnormality; DNA; Data; Databases; Dedications; Deletion Mutation; Development; Diagnostic; Diagnostic tests; Diamond-Blackfan anemia; Disease remission; Dysmyelopoietic Syndromes; Epidemiology; Epigenetic Process; Erythroid; Erythropoiesis; Event; Failure; Family; Funding; Gene Proteins; General Population; Genes; Genetic; Genotype; Glean; Goals; Grant; Health Personnel; Health Professional; Health Services Accessibility; Hematological Disease; Hematologist; Hematopoiesis; Hereditary Disease; Incidence; Individual; Inherited; International; Investigation; Knowledge; Laboratories; Laboratory Research; Laboratory Study; Link; Literature; Malignant Neoplasms; Mission; Modality; Molecular; Molecular Diagnosis; Molecular and Cellular Biology; Morbidity - disease rate; Mutate; Mutation; North America; Outcome; Pancytopenia; Patients; Phase; Phenotype; Population; Predisposition; Production; Proteins; Publishing; Pure Red-Cell Aplasia; RNA Processing; RPS19 gene; Rare Diseases; Registries; Reporting; Research; Research Infrastructure; Research Personnel; Resources; Retrospective cohort; Ribosomal Proteins; Ribosomal RNA; Ribosomes; Sampling; Science; Short Interspersed Nucleotide Elements; Solid Neoplasm; Standardization; Syndrome; Therapeutic; Therapeutic Human Experimentation; Treatment Protocols; United Kingdom; base; biobank; bone marrow failure syndrome; cancer risk; congenital anomaly; deletion analysis; demographics; early childhood; gene discovery; human disease; improved; infancy; insight; mortality; novel; novel diagnostics; osteosarcoma; outcome forecast; patient population; patient registry; public health research; reproductive; research study; response; tool; treatment response

 DESCRIPTION (provided by applicant): The Diamond Blackfan Anemia Registry (DBAR) is a comprehensive database of patients with the rare inherited bone marrow failure syndrome, Diamond Blackfan anemia (DBA). DBA is a heterogeneous genetic disorder characterized by pure red cell aplasia, congenital anomalies and a predisposition to cancer. Anemia usually presents in infancy or early childhood and approximately 50% of patients have at least one congenital anomaly. The overall cumulative incidence of cancer is over 20% by age 46, with some individual cancer risks such as colon carcinoma and osteogenic sarcoma elevated more than 30-fold compared to the general population. To date, 11 genes encoding ribosomal proteins of both the small and large subunits have been found to be mutated, representing nearly 70% of patients with DBA. Affected individuals within the same family vary dramatically as to the degree of anemia, response to corticosteroids, the presence of congenital anomalies, and the development of cancer. Prior to the development of the DBAR, our knowledge regarding the epidemiology and response to various treatment modalities was determined exclusively from literature reports. The DBAR was developed in order to provide a well-characterized patient substrate linked to biological samples, permitting the study of the epidemiology and biology of DBA. The objective of this proposal is to continue to improve and exploit the DBAR in order to: 1) facilitate investigations into the epidemiology and biology of DBA 2) provide an accurate phenotype of DBA patients to facilitate genotype-phenotype correlations as new genes are discovered 3) provide well-characterized patients access to treatment protocols 4) provide patients and their health care providers access to research studies 5) provide patients and their health care providers with results of research studies 6) serve as a resource to patients and their doctors to guide diagnostic, therapeutic, and reproductive decisions 7) develop an accurate, rapid diagnostic test for DBA 8) utilize the DBAR infrastructure and patient data to develop and manage clinical trials 9) solicit national and international collaborative research

 描述（由适用提供）：Diamond Blackfan贫血注册中心（DBAR）是一个全面的数据库，该数据库患有罕见的遗传性骨髓衰竭综合征，Diamond Blackfan贫血（DBA）。 DBA是一种异质遗传疾病，其特征在于纯红细胞相位，先天异常和癌症的易感性。贫血通常出现在婴儿期或幼儿期，大约50％的患者至少有一个先天性异常。到46岁时，癌症的总体累积事件为20％以上，与普通人群相比，某些个别癌症的风险（例如结肠癌和成骨肉瘤）升高了30倍以上。迄今为止，已经发现了11个编码两个小亚基和大型亚基的核糖体蛋白的基因，占DBA患者的几乎70％。在同一家庭中，受影响的个体在贫血程度，对皮质类固醇的反应，先天异常的存在以及癌症的发展方面受到动态变异的影响。在开发DBAR之前，我们对流行病学和对各种治疗方式的反应的了解仅从文献报告中确定。开发DBAR是为了提供与生物样品相关的特征良好的患者底物，从而允许研究DBA的流行病学和生物学。该提案的目的是继续改善并探索DBAR的目的：1）促进对DBA的流行病学和生物学的调查2）提供DBA患者的准确表型，以促进基因型 - 表型相关的相关性，因为新基因促进了新基因的研究者，以提供治疗的患者及其治疗方案的访问4）提供了治疗方案4）4）提供了医疗方案4）4）4）4）4）提供了医疗服务4）研究结果6）为患者及其医生提供资源，以指导诊断，治疗和生殖决策7）为DBA开发准确，快速的诊断测试8）利用DBAR基础设施和患者数据开发和管理临床试验9）