DCC supplement for Experimental Models Portal and Enhanced Security

DCC 对实验模型门户和增强安全性的补充

• 批准号: 10853825
• 负责人: Jack DiGiovanna
• 金额: $ 155.85万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-26 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10853825
• 关键词: Administrative Supplement; Affect; Alzheimer' s Disease; Animal Model; Autoimmune Diseases; Award; Biological Models; Chromosome 21; Chromosome abnormality; Clinical; Communities; Congenital Heart Defects; Data; Data Analyses; Data Coordinating Center; Data Linkages; Data Set; Development; Dictionary; Down Syndrome; Ecosystem; Environment; Evolution; Experimental Models; Feedback; Funding; Future; Genes; Grant; Human; Image; Individual; Ingestion; Intake; Intellectual functioning disability; Laboratories; Learning; Longevity; Metadata; Mission; Modeling; National Heart, Lung, and Blood Institute; Newborn Infant; Persons; Phenotype; Population; Privatization; Proteome; Protocols documentation; Publishing; Rattus; Recommendation; Reporting; Research; Research Personnel; Respiratory Tract Infections; Rodent Model; Security; Services; Testing; Time; Trisomy; United States National Institutes of Health; Writing; body system; cell type; cognitive testing; data harmonization; data hub; data ingestion; data modeling; data portal; data sharing; data visualization; design; empowerment; experimental study; induced pluripotent stem cell; metabolome; mouse model; overexpression; pilot test; trait; transcriptome; web portal

PROJECT SUMMARY. This is a proposal to support the design of a pilot data portal for sharing and analysis of data from experimental models of Down syndrome, and to enhance the security ecosystem of the existing researcher portal known as the INCLUDE Data Hub. Down syndrome (DS), which is caused by trisomy of chromosome 21 (chr21, T21), affects ~1 in 700 newborns, making it the most prevalent chromosomal abnormality in the human population and a leading cause of intellectual and developmental disability. T21 affects the development and/or function of nearly every organ system, predisposing persons with DS to many co-occurring conditions across the lifespan. However, little is known about how an extra copy of chr21 causes the multiple developmental and clinical hallmarks of DS. Therefore, there is a clear need to dissect cause-effect relationships between an extra copy of chr21, overexpression of chr21 genes, and the multiple traits of DS through the use of experimental models, such as rodent models and induced pluripotent stem cells (iPSCs) and their progenies. The DS research field has developed many experimental models to investigate the effects of T21 in the laboratory, including myriad animal models and iPSCs with and without T21. However, there is currently no integrated platform for the identification, sharing and analysis of the datasets generated from these experiments. Within this context, we propose here to develop a pilot researcher portal for sharing and analysis of data from experimental models of DS, while also enhancing the security framework of the existing Data Hub. The Specific Aims of this proposal are: 1. Develop a pipeline for the identification, ingestion, curation, harmonization and sharing of data from experimental models of DS. 2. Develop a demonstration online portal for search, identification, and analysis of data from experimental models of DS. 3. Engage a community of experts in the beta testing of the pilot portal. 4. Enhance the security ecosystem of the INCLUDE Data Hub. Enabled by this supplement, we will count with a beta-tested demonstration portal and the underlying expertise for the future creation of an Experimental Models Portal within the INCLUDE Data Hub, while also becoming fully compliant with advanced security standards.

项目摘要。 这是一项支持设计试点数据门户的提案，用于共享和分析实验数据 唐氏综合症模型，并增强现有研究人员门户的安全生态系统 包括数据中心。 唐氏综合症 (DS) 是由 21 号染色体三体（chr21、T21）引起的，影响大约七百分之一的新生儿， 使其成为人类中最普遍的染色体异常，也是导致 智力和发育障碍。 T21 影响几乎每个器官的发育和/或功能 DS 患者在一生中容易出现许多同时发生的情况。然而，很少的是 了解 chr21 的额外拷贝如何导致 DS 的多种发育和临床特征。 因此，显然需要剖析 chr21 的额外副本之间的因果关系， 通过使用实验模型，例如 chr21 基因的过度表达以及 DS 的多个性状 啮齿动物模型和诱导多能干细胞（iPSC）及其后代。 DS研究领域开发了许多实验模型来研究T21在 实验室，包括无数动物模型和含有或不含 T21 的 iPSC。不过，目前还没有 用于识别、共享和分析这些实验生成的数据集的集成平台。 在此背景下，我们建议开发一个试点研究人员门户，用于共享和分析来自 DS的实验模型，同时还增强了现有数据中心的安全框架。具体 该提案的目标是： 1. 开发一个用于识别、摄取、管理、协调和共享数据的管道 DS 的实验模型。 2. 开发一个演示在线门户，用于搜索、识别和分析实验模型中的数据 DS 的。 3. 让专家社区参与试点门户的 Beta 测试。 4. 增强INCLUDE数据中心的安全生态系统。 通过此补充，我们将依靠经过测试的演示门户和基础专业知识 用于未来在 INCLUDE 数据中心内创建实验模型门户，同时也完全 符合先进的安全标准。

项目成果

A multi-institutional pediatric dataset of clinical radiology MRIs by the Children's Brain Tumor Network.

儿童脑肿瘤网络提供的多机构临床放射学 MRI 儿科数据集。

• 发表时间: 2023
• 期刊: ArXiv
• 作者: Familiar,ArianaM;Kazerooni,AnahitaFathi;Anderson,Hannah;Lubneuski,Aliaksandr;Viswanathan,Karthik;Breslow,Rocky;Khalili,Nastaran;Bagheri,Sina;Haldar,Debanjan;Kim,MeenChul;Arif,Sherjeel;Madhogarhia,Rachel;Nguyen,ThinhQ;Frenkel,
• 通讯作者: Frenkel,