Association of the Maternal Exome with Risk of an Aneuploid Conception
母体外显子组与非整倍体受孕风险的关联
基本信息
- 批准号:10307609
- 负责人:
- 金额:$ 37.27万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2017
- 资助国家:美国
- 起止时间:2017-12-15 至 2023-06-30
- 项目状态:已结题
- 来源:
- 关键词:AchievementAffectAgeAneuploidyAnimal ModelBiologicalBiological MarkersBiological ModelsBiologyCRISPR/Cas technologyCandidate Disease GeneCellsChromosome SegregationChromosomesCodeConceptionsCouplesDNADNA LibraryDiseaseEmbryoEmbryonic DevelopmentFemaleFertilityFertilization in VitroFrequenciesFundingGenesGeneticGenetic MarkersGenomeGerm CellsGoalsHumanIn VitroIncidenceIndividualInfertilityKnock-in MouseKnowledgeLeadLightMaternal AgeMediatingMeiosisMethodsModelingMolecularMolecular AbnormalityMusMutationOocytesPathway interactionsPatientsPhenotypePilot ProjectsPopulation StudyPrevalenceProcessProteinsPublic HealthRegulatory PathwayReproductionResearchResearch DesignResearch PersonnelResourcesRiskRisk MarkerRoleSamplingSampling StudiesSpontaneous abortionSystemTechnologyTestingUnited StatesValidationVariantWomanWorkaurora kinasebiological systemscausal variantempoweredexomeexome sequencinggene functiongenetic risk factorgenetic variantgenome editinghigh riskhuman femalein vivomouse genomemouse modelmutantpotential biomarkerpreimplantationpreservationpreventprogramsreproductive fitnessrisk predictionscreeningwhole genome
项目摘要
Project Summary/Abstract
Because infertility is a growing public health problem, it is imperative that we understand the
basic mechanisms and identify the genetic risk factors that give rise to this disease. The most
common genetic abnormality that causes miscarriage is aneuploidy, an embryo with an improper
number of chromosomes. While increased risk of aneuploidy is strongly correlated with increasing
maternal age, significant variation exists in aneuploidy rates at any given age, making age alone
an inadequate biomarker for the risk of producing an aneuploid conception. Therefore, we
hypothesize that women who produce higher than average levels of preimplantation stage
aneuploidy at a given age possess causal variants in genes which predispose them to an early
risk of producing an aneuploid conception. To test this hypothesis, we will sequence the exomes
of women at the extremes of the preimplantation aneuploidy phenotype. This project requires a
significant number of prior achievements, including the creation of a DNA bank from women who
have undergone in vitro fertilization (IVF) and comprehensive chromosome screening (CCS) of
IVF-derived embryos, and the development and validation of an accurate method of CCS. Both of
these hurdles have now been overcome making this proposal feasible. To achieve statistical
power to accurately identify disease-causing genes, this study will complete exome-sequencing
efforts that were initiated with pilot project funds. Previously identified candidate genes and those
identified by sequencing in this project will be evaluated for functional significance in an animal
model, because studies involving introduction of mutant genes are not possible in humans. These
approaches will shed light on the molecular mechanisms that control chromosome segregation
in female gametes. Ultimately, this study could lead to the identification of maternal genetic
markers for risk of producing an aneuploid conception, and help prevent infertility by empowering
women with necessary and personalized information to better preserve their individual fertility.
项目总结/文摘
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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Karen A Schindler其他文献
Karen A Schindler的其他文献
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{{ truncateString('Karen A Schindler', 18)}}的其他基金
Signaling Mechanisms that Control Chromosome Segregation during Female Meiosis
女性减数分裂过程中控制染色体分离的信号机制
- 批准号:
10683357 - 财政年份:2020
- 资助金额:
$ 37.27万 - 项目类别:
Signaling Mechanisms that Control Chromosome Segregation during Female Meiosis
女性减数分裂过程中控制染色体分离的信号机制
- 批准号:
10332058 - 财政年份:2020
- 资助金额:
$ 37.27万 - 项目类别:
Signaling Mechanisms that Control Chromosome Segregation during Female Meiosis
女性减数分裂过程中控制染色体分离的信号机制
- 批准号:
10455188 - 财政年份:2020
- 资助金额:
$ 37.27万 - 项目类别:
Signaling Mechanisms that Control Chromosome Segregation during Female Meiosis
女性减数分裂过程中控制染色体分离的信号机制
- 批准号:
10457384 - 财政年份:2020
- 资助金额:
$ 37.27万 - 项目类别:
Signaling Mechanisms that Control Chromosome Segregation during Female Meiosis (Equipment Administrative Supplement)
女性减数分裂过程中控制染色体分离的信号机制(设备管理补充)
- 批准号:
10405164 - 财政年份:2020
- 资助金额:
$ 37.27万 - 项目类别:
Signaling Mechanisms that Control Chromosome Segregation during Female Meiosis
女性减数分裂过程中控制染色体分离的信号机制
- 批准号:
10581965 - 财政年份:2020
- 资助金额:
$ 37.27万 - 项目类别:
Signaling Mechanisms that Control Chromosome Segregation during Female Meiosis
女性减数分裂过程中控制染色体分离的信号机制
- 批准号:
10682324 - 财政年份:2020
- 资助金额:
$ 37.27万 - 项目类别:
Signaling Mechanisms that Control Chromosome Segregation during Female Meiosis
女性减数分裂过程中控制染色体分离的信号机制
- 批准号:
10265406 - 财政年份:2020
- 资助金额:
$ 37.27万 - 项目类别:
Understanding genetic risk for aneuploid conception
了解非整倍体受孕的遗传风险
- 批准号:
10585662 - 财政年份:2017
- 资助金额:
$ 37.27万 - 项目类别:
Association of the Maternal Exome with Risk of an Aneuploid Conception
母体外显子组与非整倍体受孕风险的关联
- 批准号:
10063883 - 财政年份:2017
- 资助金额:
$ 37.27万 - 项目类别:
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