The DBA Registry: A Vital Tool for the Study of DBA
DBA注册表:DBA学习的重要工具
基本信息
- 批准号:7474644
- 负责人:
- 金额:$ 31.29万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2004
- 资助国家:美国
- 起止时间:2004-09-30 至 2010-01-20
- 项目状态:已结题
- 来源:
- 关键词:Adrenal Cortex HormonesAffectAnemiaBiologicalBiologyCanadaCell Differentiation processClinicalComplexConduct Clinical TrialsCongenital AbnormalityDataDatabasesDefective spinal cord developmentDevelopmentDiagnosisDiagnosticDiamondDiamond-Blackfan anemiaDiseaseDisease remissionDysmyelopoietic SyndromesEpidemiologyErythroidFailureFamilyFutureGenesGenotypeHematologic NeoplasmsHematologistHematopoieticHereditary DiseaseIncidenceIndividualInheritedInternationalInvestigationKnowledgeLaboratoriesLaboratory StudyLiteratureMalignant NeoplasmsModalityNumbersOutcomePancytopeniaPatient CarePatientsPenetrancePhenotypePopulationPredispositionProcessPublishingPure Red-Cell AplasiaRegistriesReportingResearchResearch PersonnelResourcesSyndromeTherapeuticTherapeutic Human ExperimentationToxic effectTreatment ProtocolsUnited StatesUpdatecancer riskdemographicsearly childhoodgene discoverygene interactiongenetic linkage analysisgenetic pedigreeinfancyoutcome forecastprogramsreproductiveresearch studyresponsetool
项目摘要
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), 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 greater than 40% of patients have at least one congenital anomaly. The actuarial cancer risk although increased, is as of yet, undetermined. One of at least three DBA genes has been cloned. Of note, patients with the same genotype often do not manifest the same phenotype. Indeed, "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. For example the extreme toxicity of corticosteroids was only recognized through data obtained from the Registry. As well the ability to do meaningful biologic studies has been hampered by the rarity of the disorder. The objective of this application is to expand and update the DBAR in order to: 1) facilitate investigations into the epidemiology and biology of Diamond Blackfan anemia; 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 to access to research studies; 5) provide patients with results of research studies; 6) serve as a resource to patients and their doctors to guide diagnostic, therapeutic, an reproductive decisions.
描述(由申请人提供):
钻石黑粉贫血登记处(DBAR)是罕见遗传性骨髓衰竭综合征钻石黑粉贫血(DBA)患者的全面数据库,钻石黑粉贫血(DBA)是一种以纯红细胞再生障碍性贫血、先天性异常和癌症易感性为特征的异质性遗传疾病。贫血通常出现在婴儿期或儿童早期,超过40%的患者至少有一种先天性异常。精算的癌症风险虽然增加了,但到目前为止,还没有确定。至少三个DBA基因中的一个已经被克隆。值得注意的是,具有相同基因型别的患者通常不会表现出相同的表型。事实上,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、先天畸形的存在和癌症的发展方面可能有很大的不同。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完全是从文献报告中确定的。例如,只有通过从登记处获得的数据才能认识到皮质类固醇的极端毒性。此外,这种疾病的罕见也阻碍了进行有意义的生物学研究的能力。此应用程序的目标是扩展和更新DBAR,以:1)促进对钻石黑粉贫血流行病学和生物学的调查;2)提供DBA患者的准确表型,以促进基因和表型的相关性;3)为具有良好特征的患者提供治疗方案;4)使患者能够获得研究研究;5)向患者提供研究研究结果;6)作为患者及其医生的资源,指导诊断、治疗和生殖决策。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Jeffrey M Lipton其他文献
922 TREATMENT OF MURINE AND HUMAN BONE MARROW WITH MONO-CLONAL ANTIBODIES TO T LYMPHOCYTES TO PREVENT GRAFT VERSUS HOST DISEASE (GVHD)
922 用针对 T 淋巴细胞的单克隆抗体治疗小鼠和人骨髓以预防移植物抗宿主病(GVHD)
- DOI:
10.1203/00006450-198104001-00947 - 发表时间:
1981-04-01 - 期刊:
- 影响因子:3.100
- 作者:
Brian Hamilton;Jeffrey M Lipton;Robertson Parkman - 通讯作者:
Robertson Parkman
Developmental Stage-Specific Hematopoietic Failure emIn Vivo in/em a Novel Model of Diamond Blackfan Anemia
- DOI:
10.1182/blood-2022-163200 - 发表时间:
2022-11-15 - 期刊:
- 影响因子:23.100
- 作者:
Yuefeng Tang;Mushran Kahn;Julien Papoin;Hongxia Yan;Anupama Narla;James Palis;Laurie A. Steiner;Patrick G. Gallagher;Jeffrey M Lipton;Mohandas Narla;Lionel Blanc - 通讯作者:
Lionel Blanc
Developmental Stage-Specific Hematopoietic Failure <em>In Vivo in</em> a Novel Model of Diamond Blackfan Anemia
- DOI:
10.1182/blood-2022-163200 - 发表时间:
2022-11-15 - 期刊:
- 影响因子:
- 作者:
Yuefeng Tang;Mushran Kahn;Julien Papoin;Hongxia Yan;Anupama Narla;James Palis;Laurie A. Steiner;Patrick G. Gallagher;Jeffrey M Lipton;Mohandas Narla;Lionel Blanc - 通讯作者:
Lionel Blanc
DNA Damage is the Triggering Event for Apoptosis in Fanconi Anemia (FA) ♦ 748
DNA 损伤是范可尼贫血(FA)中细胞凋亡的触发事件♦ 748
- DOI:
10.1203/00006450-199804001-00769 - 发表时间:
1998-04-01 - 期刊:
- 影响因子:3.100
- 作者:
Steven Arkin;Jaime Goldstein;Philip Risser;Jeffrey M Lipton - 通讯作者:
Jeffrey M Lipton
Dissecting the heterogeneity of macrophage activation syndrome
- DOI:
10.1186/1546-0096-12-s1-p54 - 发表时间:
2014-09-17 - 期刊:
- 影响因子:2.300
- 作者:
Sergio Davì;Francesca Minoia;AnnaCarin Horne;Francesca Bovis;Erkan Demirkaya;Jonathan Akikusa;Nuray Aktay Ayaz;Patrizia Barone;Bianca Bica;Isabel Bolt;Luciana Breda;Zane Davidsone;Carmen De Cunto;Jaime De Inocencio;Sandra Enciso;Romina Gallizzi;Thomas Griffin;Teresa Hennon;Gerd Horneff;Maka Ioseliani;Michael Jeng;Agneza Marja Kapovic;Bianca Lattanzi;Jeffrey M Lipton;Silvia Magni-Manzoni;Clarissa Nassif;Ingrida Rumba;Claudia Saad Magalhaes;Sulaiman Al-Mayouf;Wafaa Mohammed Sewairi;Kimo C Stine;Olga Vougiouka;Lehn Weaver;Mabruka Ahmed Zletni;Nicola Ruperto;Alberto Martini;Randy Q Cron;Angelo Ravelli - 通讯作者:
Angelo Ravelli
Jeffrey M Lipton的其他文献
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{{ truncateString('Jeffrey M Lipton', 18)}}的其他基金
The DBA Registry: A Vital Tool for the Study of DBA
DBA注册表:DBA学习的重要工具
- 批准号:
6951192 - 财政年份:2004
- 资助金额:
$ 31.29万 - 项目类别:
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 - 财政年份:2004
- 资助金额:
$ 31.29万 - 项目类别:
The DBA Registry: A Vital Tool for the Study of DBA
DBA注册表:DBA学习的重要工具
- 批准号:
6876221 - 财政年份:2004
- 资助金额:
$ 31.29万 - 项目类别:
A Vital Tool for the Study of DBA:The Diamond Blackfan Anemia Registry
DBA 学习的重要工具:Diamond Blackfan 贫血登记处
- 批准号:
8402592 - 财政年份:2004
- 资助金额:
$ 31.29万 - 项目类别:
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:
8604725 - 财政年份:2004
- 资助金额:
$ 31.29万 - 项目类别:
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:
8209174 - 财政年份:2004
- 资助金额:
$ 31.29万 - 项目类别:
The DBA Registry: A Vital Tool for the Study of DBA
DBA注册表:DBA学习的重要工具
- 批准号:
7275300 - 财政年份:2004
- 资助金额:
$ 31.29万 - 项目类别:
The DBA Registry: A Vital Tool for the Study of DBA
DBA注册表:DBA学习的重要工具
- 批准号:
7109387 - 财政年份:2004
- 资助金额:
$ 31.29万 - 项目类别:
A Vital Tool for the Study of DBA:The Diamond Blackfan Anemia Registry
DBA 学习的重要工具:Diamond Blackfan 贫血登记处
- 批准号:
7786399 - 财政年份:2004
- 资助金额:
$ 31.29万 - 项目类别:
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