Human Participants and Sequencing
人类参与者和测序
基本信息
- 批准号:10256628
- 负责人:
- 金额:$ 30.64万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2020
- 资助国家:美国
- 起止时间:2020-09-08 至 2025-08-31
- 项目状态:未结题
- 来源:
- 关键词:AddressAffectAliquotAnimal ModelArchivesB-LymphocytesBioinformaticsBloodBlood specimenCD34 geneCRISPR/Cas technologyCase Report FormCell CountCell LineCell SurvivalCell physiologyCellsClinicalClinical DataCodeConsentConsent FormsCryopreservationDNADNA Sequencing FacilityDNA sequencingDataDatabasesDefectDepositionDiagnosisDiseaseEligibility DeterminationEnrollmentEnsureFreezingFunctional disorderGenesGeneticGenomic DNAGenomicsGoalsHumanHuman Herpesvirus 4ImmunologyIndividualInformed ConsentInheritedInstitutional Review BoardsInvestigationLeadLiquid substanceLymphocyteMediatingNeonatal ScreeningNitrogenOntologyParentsParticipantPatientsPeripheral Blood Mononuclear CellPhenotypePlasmaProtocols documentationProviderPublicationsRNARare DiseasesRecordsRegulationResearchResearch PersonnelRoleSamplingSampling StudiesSecureSevere Combined ImmunodeficiencyShipsSourceSpottingsStandardizationSystemT-LymphocyteTestingTrainingUnited States National Institutes of HealthUntranslated RNAValidationVariantVenous blood samplingX-Linked Severe Combined Immunodeficiencyartemisclinically relevantcongenital immunodeficiencydata de-identificationdata exchangedeep sequencinggene correctiongenetic disorder diagnosisgenetic variantgenome editinggenome sequencinghuman subjectnovel strategiespersonalized medicinephenotypic datapopulation basedprogramsrapid growthscreeningtranscriptometranscriptome sequencingtransforming viruswhole genome
项目摘要
CORE C, Human Participants and Sequencing: ABSTRACT
The past decade has seen a rapid increase in diagnosis of genetic primary immunodeficiencies (PIDs)
involving T lymphocyte dysfunction, in part due to the advent of population based newborn screening for
severe combined immunodeficiency (SCID). This Program Project will combine new approaches that utilize
deep sequencing, high-throughput cellular screening, genomics, gene editing, and functional testing in cellular
systems and animal models to transform our understanding of human lymphocyte differentiation and function,
and to create new, personalized treatments for affected individuals. The Projects and Cores of this Program
will address the major challenges that have stood in the way of realizing this transformation by integrating
clinical data from T-cell insufficient patients with basic investigations drawing on the expertise of leaders in
immunology, bioinformatics, target validation, and genome editing. The Human Participants and Sequencing
Core (Core C) serves the essential roles for the entire Program of (i) enrolling the human subjects, and (ii)
conducting the deep sequencing. Subjects to be studied will be patients with T cell insufficiency or severe
combined immunodeficiency (SCID) whose genetic diagnosis is unproven despite having had known genes
responsible for these conditions investigated. Parents will be enrolled also. Core C will be the entry point and
tracking hub for: informed consent, receiving samples, and collecting and recording phenotypic data (Aim 1);
preparing samples for studies to be carried out by all the Projects and Cores (Aim 2); and obtaining special
samples, including CD34+ primary cells from SCID patients for Projects 2 and 3 (Aim 3). Furthermore, Core C
will obtain genomic DNA and cell-subset RNA sequencing for all Projects (Aim 2), sharing it, as permitted, with
national databases to contribute to publicly available de-identified information on rare diseases (Aim 4).
CORE C,人类参与者和测序:摘要
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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Jennifer M. Puck其他文献
Autosomal Dominant Hyper IgE Syndrome
常染色体显性遗传性高 IgE 综合征
- DOI:
- 发表时间:
2012 - 期刊:
- 影响因子:0
- 作者:
A. P. Hsu;Joie Davis;Jennifer M. Puck;Steven M. Holland;A. Freeman - 通讯作者:
A. Freeman
Retroviral-mediated gene correction for X-linked severe combined immunodeficiency.
X连锁严重联合免疫缺陷的逆转录病毒介导的基因校正。
- DOI:
10.1182/blood.v87.8.3097.bloodjournal8783097 - 发表时间:
1996 - 期刊:
- 影响因子:20.3
- 作者:
F. Candotti;James A. Johnston;Jennifer M. Puck;Kazuo Sugamura;John J. OShea;R. Blaese - 通讯作者:
R. Blaese
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
女性种系嵌合是导致 X 连锁严重联合免疫缺陷的独特 IL-2 受体 γ 链突变的起源。
- DOI:
- 发表时间:
1995 - 期刊:
- 影响因子:15.9
- 作者:
Jennifer M. Puck;A. E. Pepper;P. M. Bédard;R. Laframboise - 通讯作者:
R. Laframboise
Abnormal B-cell maturation in the bone marrow of patients with germline mutations in <em>PIK3CD</em>
- DOI:
10.1016/j.jaci.2016.08.028 - 发表时间:
2017-03-01 - 期刊:
- 影响因子:
- 作者:
Alina E. Dulau Florea;Raul C. Braylan;Kristian T. Schafernak;Kelli W. Williams;Janine Daub;Rakesh K. Goyal;Jennifer M. Puck;V. Koneti Rao;Stefania Pittaluga;Steven M. Holland;Gulbu Uzel;Katherine R. Calvo - 通讯作者:
Katherine R. Calvo
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of <em>N</em>-glycosylation
- DOI:
10.1016/j.jbiotec.2008.07.389 - 发表时间:
2008-10-01 - 期刊:
- 影响因子:
- 作者:
Guillaume Vogt;Jacinta Bustamante;Ariane Chapgier;Jacqueline Feinberg;Stephanie Boisson-Dupuis;Capucine Picard;Nizar Mahlaoui;Laure Gineau;Alexandre Alcaïs;Christophe Lamaze;Jennifer M. Puck;Geneviève de Saint Basile;Claudia Djambas-Khayat;Raymond Mikhael;Jean-Laurent Casanova - 通讯作者:
Jean-Laurent Casanova
Jennifer M. Puck的其他文献
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{{ truncateString('Jennifer M. Puck', 18)}}的其他基金
Functional Analysis of Candidate Genes in Primary T Cell Immunodeficiencies
原发性 T 细胞免疫缺陷候选基因的功能分析
- 批准号:
8914488 - 财政年份:2014
- 资助金额:
$ 30.64万 - 项目类别:
Functional Analysis of Candidate Genes in Primary T Cell Immunodeficiencies
原发性 T 细胞免疫缺陷候选基因的功能分析
- 批准号:
8684255 - 财政年份:2014
- 资助金额:
$ 30.64万 - 项目类别:
Annual Primary Immune Deficiency Treatment Consortium (PIDTC) Workshop and Education Day
年度原发性免疫缺陷治疗联盟 (PIDTC) 研讨会和教育日
- 批准号:
10683593 - 财政年份:2011
- 资助金额:
$ 30.64万 - 项目类别:
Pilot ProgramPilot/Demonstration Project Program (PPP)
试点计划试点/示范项目计划 (PPP)
- 批准号:
8326286 - 财政年份:2009
- 资助金额:
$ 30.64万 - 项目类别:
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