COBRE in Human Genetics
COBRE 在人类遗传学中的应用
基本信息
- 批准号:10569653
- 负责人:
- 金额:$ 219.82万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2021
- 资助国家:美国
- 起止时间:2021-02-10 至 2026-01-31
- 项目状态:未结题
- 来源:
- 关键词:Advisory CommitteesAffectAnimal ModelAnimalsAssistantshipAwardBioinformaticsBiological ModelsBiomedical ResearchCell Culture TechniquesCellsCellular biologyCenters of Research ExcellenceCollaborationsComplementComplexComputational BiologyCore FacilityDataDevelopmentDevelopmental BiologyDiagnosisDiseaseEpigenetic ProcessEvaluationExtramural ActivitiesFaceFacultyFundingFutureGene Expression RegulationGeneticGenetic ResearchGenetic TranscriptionGenetic VariationGenomic medicineGenomicsGoalsGrantHealthHumanHuman GeneticsHuman GenomeIndividualInstitutionInterdisciplinary StudyKnowledgeLeadershipMapsMentorsModelingModernizationMolecularMolecular GeneticsPatientsPhenotypePilot ProjectsPopulationRare DiseasesResearchResearch ActivityResearch InfrastructureResearch PersonnelResearch Project GrantsResearch SupportResourcesRiskRoleScientistSouth CarolinaStatistical ModelsStructureSymptomsTestingTrainingUnited States National Institutes of HealthUniversitiesUntranslated RNAVariantanimal model developmentcandidate identificationcausal variantdevelopmental geneticsdimensional analysisdisease phenotypedisorder riskexome sequencingforward geneticsfunctional genomicsgenetic informationgenetic variantgenome sequencinggenomic datagraduate studenthigh dimensionalityhuman diseaseinnovationinterestmembermultidisciplinarynature centerneurogeneticspleiotropismpredictive modelingprofessorprogramsrare genetic disorderrare variantrecruitrisk predictionstatisticstherapy developmenttraitwhole genome
项目摘要
SUMMARY
Common and rare genetic diseases affect a large fraction of the world’s population. Elucidating the
mechanisms by which naturally occurring genetic variants affect disease risk requires multidisciplinary
expertise in quantitative, population, molecular, cellular and developmental genetics; statistics, bioinformatics
and computational biology; and functional genomics in cell culture and animal models. We propose a Center of
Biomedical Research Excellence (COBRE) in Human Genetics that constitutes a unique partnership between
the Clemson University Center for Human Genetics and the Greenwood Genetic Center. Research in the
COBRE in Human Genetics will focus on understanding the genetic, genomic, and epigenetic mechanisms by
which molecular genetic variation affects rare and common diseases. The COBRE in Human Genetics will
support four research projects from junior investigators that tackle several of the outstanding challenges facing
modern human genetics, including the roles of human long non-coding RNAs in risk for human disease, the
effects of structural variation on disease phenotypes and gene regulation, development of animal models for
rare diseases, and incorporating context-dependent effects into statistical models predicting complex trait
phenotypes from large scale genetic variation data. Eight Pilot Projects led by junior investigators will
contribute additional breadth and depth of research topics to the COBRE in Human Genetics. The Research
Project Leaders will be mentored by established external NIH-funded researchers as well as the three PIs. The
Research and Pilot Project Leaders will be supported by an Administrative Core that provides a wide range of
professional development activities. The COBRE in Human Genetics will establish both Internal and External
Advisory Committees and implement a comprehensive Evaluation Plan. The projects will be supported by a
state-of-the-art Genomics and Bioinformatics Research Core that will benefit two other Clemson University
COBREs as well as other faculty at Clemson University and the Greenwood Genetic Center. The COBRE in
Human Genetics has strong institutional support, with commitments to hire additional faculty to expand the
scope of the research activities during this period of support, and to provide graduate student research
assistantships to support the research projects. The research performed by the Project Leaders of the COBRE
in Human Genetics will provide new knowledge of the mechanisms by which molecular genetic variation
affects variation in complex traits in health and disease, enhance the national reputation of Clemson University
as a research and training center in human genetics, and set the stage for future development of institutional
training grants and program projects. This COBRE will strengthen the biomedical research infrastructure of
Clemson University and increase the number of NIH-funded scientists in the state of South Carolina.
总结
常见和罕见的遗传疾病影响着世界人口的很大一部分。阐明
自然发生的遗传变异影响疾病风险的机制需要多学科
在数量,人口,分子,细胞和发育遗传学的专业知识;统计学,生物信息学
和计算生物学;以及细胞培养和动物模型中的功能基因组学。我们建议建立一个
生物医学研究卓越(COBRE)在人类遗传学,构成了一个独特的伙伴关系,
克莱姆森大学人类遗传学中心和格林伍德遗传学中心。的研究
COBRE在人类遗传学将侧重于了解遗传,基因组和表观遗传机制,
这种分子遗传变异会影响罕见和常见疾病。COBRE在人类遗传学中将
支持初级研究人员的四个研究项目,以解决面临的几个突出挑战
现代人类遗传学,包括人类长非编码RNA在人类疾病风险中的作用,
结构变异对疾病表型和基因调控的影响,
罕见疾病,并将背景依赖效应纳入预测复杂性状的统计模型
大规模遗传变异数据的表型。由初级调查员领导的八个试点项目将
贡献额外的广度和深度的研究课题的COBRE在人类遗传学。研究
项目负责人将由NIH资助的外部研究人员以及三位PI指导。的
研究和试点项目负责人将得到一个行政核心的支持,该核心提供广泛的
专业发展活动。COBRE在人类遗传学中将建立内部和外部
咨询委员会,并实施全面的评估计划。这些项目将得到一个
最先进的基因组学和生物信息学研究核心,将有利于其他两个克莱姆森大学
COBREs以及克莱姆森大学和格林伍德遗传中心的其他教师。眼镜蛇在
人类遗传学有强大的机构支持,承诺聘请更多的教师,以扩大
在此期间支持研究活动的范围,并提供研究生研究
资助研究项目。COBRE项目负责人进行的研究
人类遗传学将提供分子遗传变异机制的新知识,
影响健康和疾病的复杂性状的变化,提高克莱姆森大学的国家声誉
作为人类遗传学的研究和培训中心,并为机构的未来发展奠定基础。
培训赠款和方案项目。COBRE将加强生物医学研究基础设施,
克莱姆森大学和增加国家卫生研究院资助的科学家在南卡罗来纳州的数量。
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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Robert R. H Anholt其他文献
Robert R. H Anholt的其他文献
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{{ truncateString('Robert R. H Anholt', 18)}}的其他基金
Genetic Basis of Lifespan and Healthspan Extension by ACE Inhibition in Drosophila
果蝇 ACE 抑制延长寿命和健康寿命的遗传基础
- 批准号:
10681415 - 财政年份:2022
- 资助金额:
$ 219.82万 - 项目类别:
Genetic Basis of Lifespan and Healthspan Extension by ACE Inhibition in Drosophila
果蝇 ACE 抑制延长寿命和健康寿命的遗传基础
- 批准号:
10437098 - 财政年份:2022
- 资助金额:
$ 219.82万 - 项目类别:
Statistical Methods for Gene Regulatory Analysis From Single Cell Genomics Data
单细胞基因组数据基因调控分析的统计方法
- 批准号:
10728206 - 财政年份:2022
- 资助金额:
$ 219.82万 - 项目类别:
Statistical Methods for Gene Regulatory Analysis From Single Cell Genomics Data
单细胞基因组数据基因调控分析的统计方法
- 批准号:
10728209 - 财政年份:2021
- 资助金额:
$ 219.82万 - 项目类别:
Reverse Engineering Quantitative Genetic Variation
逆向工程定量遗传变异
- 批准号:
9915941 - 财政年份:2018
- 资助金额:
$ 219.82万 - 项目类别:
Reverse Engineering Quantitative Genetic Variation
逆向工程定量遗传变异
- 批准号:
9769077 - 财政年份:2018
- 资助金额:
$ 219.82万 - 项目类别:
Genetics of Cocaine and Methamphetamine Sensitivity in Drosophila
果蝇可卡因和甲基苯丙胺敏感性的遗传学
- 批准号:
10164745 - 财政年份:2017
- 资助金额:
$ 219.82万 - 项目类别:
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