Tissue Procurement Center (TPC) Supporting the Somatic Mosaicism across Human Tissues (SMaHT) Network

组织采购中心 (TPC) 支持人体组织中的体细胞镶嵌 (SMaHT) 网络

基本信息

批准号：
10661300
负责人：
Thomas J Bell
金额：
$ 300万
依托单位：
NATIONAL DISEASE RESEARCH INTERCHANGE
依托单位国家：
美国
项目类别：
财政年份：
2023
资助国家：
美国
起止时间：
2023-05-01 至 2028-04-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10661300
关键词：
Address Authorization documentation Autopsy Biology Board Certification Brain Cells Clinical Collection Communities DNA Sequence Alteration Data Data Analyses Development Diagnosis Disease Ethical Analysis Ethnic Origin Evaluation Factor Analysis Faith Family Focus Groups Gene Expression Generations Genetic Variation Genotype Grant Human Human body Image Individual Infrastructure Institution Intention Interview Investigation Lead Maryland Methodology Mosaicism Organ Organ Procurements Pathologic Pathology Pediatric Hospitals Principal Investigator Procedures Process Psychologist Quality Control Race Recovery Reliability of Results Reporting Reproducibility of Results Research Research Design Research Personnel Resources Sampling Scientist Spinal Cord Structure Technical Expertise Tissue Banks Tissue Donations Tissue Procurements Tissue Sample Tissue imaging Tissues Training United States National Institutes of Health Universities Variant authority biobank body system design empowerment equity, diversity, and inclusion ethical, legal, and social implication experience experimental analysis health equity human disease human tissue insight novel strategies operation programs social culture success technology development tool development whole slide imaging

项目摘要

Program Director/Principal Investigator (Bell, Thomas, J.): Project Summary: The Somatic Mosaicism across Human Tissues (SMaHT) network project will establish the first comprehensive public resource correlating genetic variation due to somatic mosaicism in human tissues from all development layers in the human body. The SMaHT Network will have multiple centers to support the advancement of three primary initiatives: 1) somatic variant discovery, 2) data analysis and network organization, and 3) technology and tool development. The data from the SMaHT network project will provide an unparalleled research resource for investigators to gain new insights on genetic variation due to somatic mosaicism processes in healthy human tissues. In addition to capitalizing on new emerging methodologies to study somatic mosaicism in human tissues, the SMaHT program includes an Ethical, Legal, Social Implications (ELSI) study to further our understanding of the ELSI factors in human tissue donation for somatic mosaicism research. To support the advancement of the SMaHT network project, this proposal will establish a Tissue Procurement Center (TPC) that will provide the SMaHT network with multiple, high quality human tissue samples from the same individual across all three developmental layers for their experimental analysis. To meet the challenges for SMaHT network, our proposal is utilizing a multi-institutional effort with extensive expertise in human tissue collection, research, pathology, imaging, biobanking, and ELSI study analysis. This span of expertise is essential for the TPC to successfully deliver well-annotated, suitable tissue samples to support the generation of reliable and reproducible results and data interpretations from the SMaHT network experimental procedures. In addition, the TPC will lead the SMaHT network ELSI study to shed light on the ELSI-specific factors in human tissue donation for somatic mosaicism research. To enable a more extensive analysis of these factors, the SMaHT network ELSI study will include evaluations on Tissue Requesters (TRs) and Family Decision Makers (FDMs). Collectively, our TPC team is committed to establishing an unequaled TPC for the SMaHT network program to support the advancement of somatic mosaicism research, the associated ELSI factors, and ultimately the development of new clinical approaches to treat disorders driven by genetic variations from somatic mosaicism in human tissues. Relevance: The Somatic Mosaicism across Human Tissues (SMaHT) network project will provide the first comprehensive public resource of analyzing genetic variation due to somatic mosaicism in human tissues from all three developmental layers. The SMaHT network program will create a new, state-of-the-art research resource to support new discoveries in the biology and disease mechanisms that are propelled by somatic genomic alterations in human tissues and facilitate the development of new clinical approaches for disorders derived from somatic genetic variations. OMB No. 0925-0001/0002 (Rev. 03/2020 Approved Through 02/28/2023) Page Continuation Format Page

计划主任/首席研究员（Bell，Thomas，J。）：项目摘要：跨人体组织（SMAHT）网络项目的躯体镶嵌化项目将建立第一个综合公共资源将由于人类组织中的躯体镶嵌性而引起的遗传变异相关联人体中的层。 SMAHT网络将有多个中心来支持三个主要举措：1）躯体变体发现，2）数据分析和网络组织，3）技术和工具开发。 SMAHT网络项目的数据将提供无与伦比的研究资源使研究人员因健康人的体细胞镶嵌过程而获得有关遗传变异的新见解组织。除了利用新的新兴方法来研究人体组织中的体细胞镶嵌外， SMAHT计划包括道德，法律，社会影响（ELSI）研究，以进一步了解我们对人体组织捐赠中的ELSI因素用于体细胞镶嵌研究。为了支持SMAHT网络项目的进步，该提案将建立组织采购中心（TPC）将为SMAHT网络提供来自多个高质量的人体组织样本在所有三个发展层中的同一个人进行实验分析。应对挑战对于SMAHT网络，我们的提议正在利用多机构的努力，并在人体组织方面具有广泛的专业知识收集，研究，病理学，成像，生物群和ELSI研究分析。这种专业知识至关重要让TPC成功提供良好的，合适的组织样品，以支持可靠的生成以及可重现的结果和来自SMAHT网络实验程序的数据解释。此外， TPC将带领SMAHT网络ELSI研究阐明人类组织中的ELSI特异性因素捐赠躯体镶嵌研究。为了对这些因素进行更广泛的分析，SMAHT 网络ELSI研究将包括对组织请求者（TRS）和家庭决策者（FDMS）的评估。总的来说，我们的TPC团队致力于为SMAHT网络计划建立一个无与伦比的TPC 支持躯体镶嵌研究的进步，相关的ELSI因素，最终开发新的临床方法来治疗由遗传变异造成的疾病在人体组织中。关联：跨人类组织（SMAHT）网络项目的躯体镶嵌化项目将提供第一个综合分析由于人类组织中体细胞镶嵌而引起的遗传变异的公共资源发展层。 SMAHT网络计划将创建一个新的，最先进的研究资源支持体细胞基因组推动的生物学和疾病机制中的新发现人体组织的改变并促进发展新的临床方法的疾病体细胞遗传变异。 OMB No. 0925-0001/0002（Rev. 03/2020通过02/28/2023批准）页面延续格式页面