The Massachusetts General Hospital Harvard Center for Reproductive Medicine
马萨诸塞州总医院哈佛生殖医学中心
基本信息
- 批准号:10613357
- 负责人:
- 金额:$ 153.33万
- 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:2021-08-10 至 2026-03-31
- 项目状态:未结题
- 来源:
- 关键词:AccelerationAddressAffectAgeArchitectureBiologicalBiological FactorsBiological ProcessBostonBrainCenter for Translational Science ActivitiesChildClinicalClinical ResearchClinical TreatmentCollectionCommunicationCommunitiesComputational BiologyCounselingCouplesCreativenessDNAData AnalyticsDenmarkDiagnosisDiseaseEducation and OutreachEndocrinologyEstoniaEthnic PopulationFacultyFamilyFertilityFinancial HardshipFinlandFosteringFutureGNRH1 geneGeneral HospitalsGenesGeneticGenetic EngineeringGenomicsGenotypeGoalsGonadal structureGroup MeetingsGynecologyHealthHospitalsHumanHuman DevelopmentHuman EngineeringHypogonadismIndividualInfertilityInformation DisseminationInstitutionInterdisciplinary StudyInternationalInvestigationInvestmentsKnowledgeLeadLeadershipLinkLongitudinal StudiesMassachusettsMendelian randomizationMentorsMentorshipMethodologyMethodsMorbidity - disease rateMutationNational Institute of Child Health and Human DevelopmentOperative Surgical ProceduresParentsPathway interactionsPatientsPediatricsPenetrancePhenotypePhysiologicalPopulationPopulation GeneticsPositioning AttributePreventionProviderPublic HealthRare DiseasesReproductionReproductive BiologyReproductive HealthReproductive MedicineResearchResearch PersonnelResearch Project GrantsResourcesRoleSamplingScientistServicesStrategic visionTechnologyTherapeuticThinkingTrainingTranslational ResearchUrologyValidationWorkbiobankclinical careclinical investigationclinical translationcohortcommunity engagementcomputerized toolscostdesignevidence baseflexibilityfunctional genomicsgene discoverygene functiongenetic architecturegenome editinggenome wide association studygenomic variationgonad developmenthuman diseaseimprovedinduced pluripotent stem cellinfertility treatmentinnovationlensliteracymembermortalitymulti-ethnicneuron developmentnext generationnext generation sequencingoutreachphenomephenomicspopulation basedpsychologicreproductivesexskillstargeted treatmenttraittranscriptomicstranslational scientistweb site
项目摘要
PROJECT ABSTRACT
Infertility affects up to 13% of reproductive age couples across the globe but the underlying mechanistic basis of
infertility and the role of infertility as an overall marker of general health is unclear. These knowledge gaps hinder
the diagnosis, treatment and prevention of infertility leading to physical, psychological and financial burden to
couples with infertility. To address these challenges, The Massachusetts General Hospital Harvard Center for
Reproductive Medicine has assembled an integrative team of investigators with expertise in reproductive
medicine, genomics, population genetics and genetic literacy who will conduct clinical translational investigation
in humans with infertility: Aim 1: To elucidate the genetic and phenomic architecture of infertility through the lens
of specific rare diseases and common traits; Aim 2: To catalyze a collaborative think-tank focused on reducing
the suffering and costs of infertility, in a manner that is outward looking, forward thinking and integrates global
perspectives; Aim 3: To nucleate a vibrant hub for outreach, training and community engagement that brings the
scientific team closer to the patients they serve, the trainees they want to mentor, and the larger community of
scientists and clinicians who are invested in reducing the burdens caused by infertility. These aims will be
achieved using two Clinical Research projects which will be supported by a Genomics and Functional Core,
Outreach Core and Administrative Core. Project 1 will perform next-generation sequencing and targeted
genotype-driven phenotyping studies in clinical cohorts enriched for genetically driven infertility from admixed
and consanguineous populations characterized by both hypogonadotropic and hypergonadotropic
hypogonadism in both sexes. Project 2 will bring together >1,800,000 multi-ethnic population biobank samples
to perform genome-wide association studies, phenome-wide association studies, and Mendelian randomization
studies to implicate key biologic pathways determining fertility and synthesize the genetic results across infertility
and related traits to characterize the effects of the identified genes and pathways on reproductive health and
overall morbidity. The Genomics and Functional Core will provide genomic technologies, data analytics,
computational and statistical support, and will generate genetically engineered human induced pluripotent cells
for validation of Project 1 & 2 genetic discoveries. The Outreach Core will buoy Project 1 & 2 activities by
engaging key stakeholders through patient group meetings, creating clinician-facing materials to enable
communication of genetic results and launch a website inspired by design-thinking for broad dissemination to
patients, families and clinicians. The Administrative Core will advance the Center’s scientific goals by providing
timely support to foster engagement and communication between investigators, patients, research trainees and
the broader academic community. Through these interdigitating activities, the Center will train the next
generation of reproductive biologists and the results emanating from its activities will help inform clinical care
and alleviate the suffering of patients with infertility.
项目摘要
项目成果
期刊论文数量(14)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Racial and Ethnic Disparities in Genomic Healthcare Utilization, Patient Activation, and Intrafamilial Communication of Risk among Females Tested for BRCA Variants: A Mixed Methods Study.
- DOI:10.3390/genes14071450
- 发表时间:2023-07-15
- 期刊:
- 影响因子:3.5
- 作者:Hesse-Biber, Sharlene;Seven, Memnun;Shea, Hannah;Heaney, Madeline;Dwyer, Andrew A.
- 通讯作者:Dwyer, Andrew A.
Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats.
- DOI:10.1186/s13023-022-02522-3
- 发表时间:2022-09-11
- 期刊:
- 影响因子:3.7
- 作者:Dwyer, Andrew A.;Uveges, Melissa;Dockray, Samantha;Smith, Neil
- 通讯作者:Smith, Neil
What Are the Best Practices for Co-Creating Patient-Facing Educational Materials? A Scoping Review of the Literature.
- DOI:10.3390/healthcare11192615
- 发表时间:2023-09-23
- 期刊:
- 影响因子:2.8
- 作者:McDonald, Isabella R.;Blocker, Elizabeth S.;Weyman, Elizabeth A.;Smith, Neil;Dwyer, Andrew A.
- 通讯作者:Dwyer, Andrew A.
Latinx individuals' knowledge of, preferences for, and experiences with prenatal genetic testing: a scoping review.
- DOI:10.1186/s12978-022-01438-2
- 发表时间:2022-06-06
- 期刊:
- 影响因子:3.4
- 作者:Grafft, Natalie;Dwyer, Andrew A.;Pineros-Leano, Maria
- 通讯作者:Pineros-Leano, Maria
Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care.
- DOI:10.3390/jpm12030477
- 发表时间:2022-03-16
- 期刊:
- 影响因子:0
- 作者:Dwyer AA;Uveges MK;Dockray S;Smith N
- 通讯作者:Smith N
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Stephanie Beth Seminara其他文献
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{{ truncateString('Stephanie Beth Seminara', 18)}}的其他基金
Phase 2 Kp-10 in Patients with Hypogonadotropic Hypogonadism
低促性腺激素性性腺功能减退症患者的 2 期 Kp-10
- 批准号:
10730209 - 财政年份:2023
- 资助金额:
$ 153.33万 - 项目类别:
Project 1 - Deciphering the Molecular Drivers of Rare Forms of Human Infertility Using Integrative Genomic, Cellular, and Phenomic Approaches
项目 1 - 使用综合基因组、细胞和表型组方法破译罕见人类不孕症的分子驱动因素
- 批准号:
10463545 - 财政年份:2021
- 资助金额:
$ 153.33万 - 项目类别:
The Massachusetts General Hospital Harvard Center for Reproductive Medicine
马萨诸塞州总医院哈佛生殖医学中心
- 批准号:
10463543 - 财政年份:2021
- 资助金额:
$ 153.33万 - 项目类别:
Project 1 - Deciphering the Molecular Drivers of Rare Forms of Human Infertility Using Integrative Genomic, Cellular, and Phenomic Approaches
项目 1 - 使用综合基因组、细胞和表型组方法破译罕见人类不孕症的分子驱动因素
- 批准号:
10613359 - 财政年份:2021
- 资助金额:
$ 153.33万 - 项目类别:
Phase 2 Kp-10 for Dopamine Agonist Intolerant Hyperprolactinemia IND 74,977
多巴胺激动剂不耐受高催乳素血症 2 期 Kp-10 IND 74,977
- 批准号:
10116170 - 财政年份:2018
- 资助金额:
$ 153.33万 - 项目类别:
Kisspeptin and Neurokinin B: Physiology in Monkey to Pathophysiology in Human
Kisspeptin 和 Neurokinin B:从猴子的生理学到人类的病理生理学
- 批准号:
9431349 - 财政年份:2017
- 资助金额:
$ 153.33万 - 项目类别:
Kisspeptin Physiology in Human Reproduction
Kisspeptin 人类生殖生理学
- 批准号:
8190179 - 财政年份:2011
- 资助金额:
$ 153.33万 - 项目类别:
Kisspeptin Physiology in Human Reproduction
Kisspeptin 人类生殖生理学
- 批准号:
8334058 - 财政年份:2011
- 资助金额:
$ 153.33万 - 项目类别:
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