GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCY
人类 NK 细胞缺陷的遗传、免疫学和机制基础
基本信息
- 批准号:10363767
- 负责人:
- 金额:$ 78.5万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2016
- 资助国家:美国
- 起止时间:2016-01-19 至 2026-08-31
- 项目状态:未结题
- 来源:
- 关键词:Abnormal CellAffectBiologicalBiometryCD34 geneCandidate Disease GeneCaringCell LineCell modelCell physiologyCellsCellular StructuresCellular biologyCessation of lifeClinicalCollaborationsComplexComputer AnalysisDatabasesDefectDevelopmentDiagnosisDiseaseEnrollmentEtiologyEvaluationEvaluation ResearchFundingFutureGene MutationGenesGeneticGenetic DiseasesGenomic medicineGenomicsGenotypeGoalsGrantHealthHereditary DiseaseHumanImageImmuneImmunityImmunologic Deficiency SyndromesImmunologicsImpairmentInfrastructureInternationalInvestigationKnowledgeLaboratoriesLearningLightMCM10 geneMalignant NeoplasmsMechanicsMedicineMethodsNatural HistoryNatural Killer CellsPathway interactionsPatient CarePatientsPhenotypePositioning AttributePrognosisProteinsResearchSystems DevelopmentTechniquesTestingTherapeuticVariantVirusVirus DiseasesWorkadvanced analyticsbasecell killingcohortcollegecongenital immunodeficiencydata lakediagnosis evaluationexome sequencingfunctional genomicsgenome sequencingimprovedinduced pluripotent stem cellinsightinterestnovelphenotypic dataprogramsrecruitsuccesstranscriptome sequencingwhole genome
项目摘要
NK cell deficiency (NKD) is a subset of primary immunodeficiency diseases/inborn errors of immunity (IEI) in
which the NK cell abnormality represents the main clinical immunodeficiency. Patients with abnormal NK cells
are susceptible to lethal virus infections and certain cancers, offering us a unique window into how these
critical immune cells work. For over 15 years we have cared for and investigated these complex patients,
applying genomic techniques to discover causative genes and illuminate NK cell biology. With this application,
we aspire to renew our coordinated NKD discovery program, with the ultimate goals of understanding how to
care for these patients as well as how to best use NK cells therapeutically. Over the past 5 years of our
program, we have defined 2 new genetic causes of NKD and 8 new causes of IEI that affect NK cells. We
established and grew an international referral network for NKD patients, honed methods to clinically and
immunologically define these rare patients, matured our genomic evaluation/discovery pathways, and
optimized patient-focused functional genomics and NK cell biological techniques, all to advance progress in
understanding NKD. At present, we have 156 patients enrolled in our NK cell evaluation and research (NEAR)
program at Columbia: of these, 70 have undergone exome sequencing (ES) at Baylor College of Medicine, 13
have found genetic solutions for their disease, 11 have a promising gene identified, and 36 remain unsolved.
During this renewal period, we will build on our successful momentum, adding new NKD patients to our
pipeline, clinically and immunologically defining their disease through the use of databases, advanced
biostatistical techniques and research level phenotypic and functional assessments (Aim 1), adding new
genomic discovery and analytic techniques like whole genome sequencing and RNA sequencing to bring
clarity to the patients whose NKD genes remain “unsolved” (Aim 2), and applying cutting-edge functional
genomics and NK cell biological techniques to demonstrate the impact and relevance of the gene mutations we
discover (Aim 3). We capitalize on strong, long-standing collaborations both within and beyond the field of
Immunodeficiency in order to best define how the gene mutations we identify impact how NK cells function in
human health. In so doing, we aim to not only better diagnose and care for these complex patients, but to
better understand how NK cells protect humans from viruses and cancer.
NK细胞缺乏症(NKD)是原发性免疫缺陷疾病/先天性免疫缺陷(IEI)的一个子集
项目成果
期刊论文数量(0)
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科研奖励数量(0)
会议论文数量(0)
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Jordan Scott Orange其他文献
Jordan Scott Orange的其他文献
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{{ truncateString('Jordan Scott Orange', 18)}}的其他基金
GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCY
人类 NK 细胞缺陷的遗传、免疫学和机制基础
- 批准号:
10490860 - 财政年份:2016
- 资助金额:
$ 78.5万 - 项目类别:
GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCY
人类 NK 细胞缺陷的遗传、免疫学和机制基础
- 批准号:
10686199 - 财政年份:2016
- 资助金额:
$ 78.5万 - 项目类别:
GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCY
人类 NK 细胞缺陷的遗传、免疫学和机制基础
- 批准号:
9205454 - 财政年份:2016
- 资助金额:
$ 78.5万 - 项目类别:
GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCY
人类 NK 细胞缺陷的遗传、免疫学和机制基础
- 批准号:
9003675 - 财政年份:2016
- 资助金额:
$ 78.5万 - 项目类别:
Directing Function at the Natural Killer Cell Secretory Immunological Synapse
自然杀伤细胞分泌免疫突触的指导功能
- 批准号:
8308767 - 财政年份:2011
- 资助金额:
$ 78.5万 - 项目类别:
Directing Function at the Natural Killer Cell Secretory Immunological Synapse
自然杀伤细胞分泌免疫突触的指导功能
- 批准号:
7875101 - 财政年份:2009
- 资助金额:
$ 78.5万 - 项目类别:
The mechanism of NK cell defects in human NEMO deficiency
人类NEMO缺陷导致NK细胞缺陷的机制
- 批准号:
7629124 - 财政年份:2008
- 资助金额:
$ 78.5万 - 项目类别:
The mechanism of NK cell defects in human NEMO deficiency
人类NEMO缺陷导致NK细胞缺陷的机制
- 批准号:
7530223 - 财政年份:2008
- 资助金额:
$ 78.5万 - 项目类别:
Directing Function at the Natural Killer Cell Secretory Immunological Synapse
自然杀伤细胞分泌免疫突触的指导功能
- 批准号:
7650556 - 财政年份:2008
- 资助金额:
$ 78.5万 - 项目类别:
Directing Function at the Natural Killer Cell Secretory Immunological Synapse
自然杀伤细胞分泌免疫突触的指导功能
- 批准号:
8448575 - 财政年份:2007
- 资助金额:
$ 78.5万 - 项目类别:
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