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

描述（由申请人提供）：Diamond Blackfan贫血登记处（DBAR）是一个罕见的遗传性骨髓衰竭综合征Diamond Blackfan贫血（DBA）患者的综合数据库。DBA是一种异质性遗传疾病，其特征是纯红细胞再生障碍性贫血、先天性异常和癌症易感性。贫血通常出现在婴儿期或幼儿期，大约50%的患者至少有一种先天性异常。癌症风险虽然增加，但尚未确定。迄今为止，已发现编码核糖体蛋白质的6个基因（包括大小亚基）发生突变，占DBA患者的近50%。值得注意的是，同一家庭中的“受影响”个体在贫血程度、对皮质类固醇的反应、先天性异常的存在和癌症的发展方面可能差异很大。在开发DBAR之前，我们关于流行病学和对各种治疗方式的反应的知识仅从文献报告中确定。DBAR的开发是为了提供与生物样品相关的良好表征的患者基质，从而允许DBA的流行病学和生物学研究。本申请的目的是改进和利用DBAR，以便：1）促进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-表型相关性; 3）提供良好表征的患者对治疗方案的访问; 4）提供患者和他们的卫生保健提供者对研究的访问; 5）为患者及其医疗保健提供者提供研究结果; 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开发准确和快速的诊断筛查测试; 8）鼓励国家和国际合作研究。 公共卫生相关性：通过利用一个特征良好的患者群体，钻石布莱克凡贫血登记，红细胞产生的分子基础及其与核糖体组装和功能以及癌症易感性的联系，可以探索。该项目的目标是利用该数据库详细分析DBA患者的贫血程度、治疗反应、先天性异常的存在和癌症的发展。这将导致深入了解这些患者和整个人群中出生缺陷和癌症的病因，并最终改善DBA患者的临床护理。

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 actuarial cancer risk although increased, is as of yet, undetermined. To date six genes encoding ribosomal proteins, of both the small and large subunits, have been found to be mutated, representing nearly 50% of patients with DBA. Of note, "affected" individuals within the same family may 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 has been 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 application is 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; 3) provide access of well characterized patients 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 and rapid diagnostic screening test for DBA; and 8) encourage national and international collaborative research. PUBLIC HEALTH RELEVANCE: By exploiting a well-characterized patient population, the Diamond Blackfan Anemia Registry, the molecular basis of red blood cell production and its link to ribosome assembly and function and cancer predisposition, can be explored. The goal of this project is to utilize this database for detailed analysis of the degree of anemia, treatment response, and presence of congenital anomalies and development of cancer in DBA patients. This will lead to insights into the etiology of birth defects and cancer in these patients and in the population at large and ultimately lead to improved clinical care for DBA patients.