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

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

Stephanie Beth Seminara的其他文献

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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:
Core A - Administrative
核心 A - 行政
  • 批准号:
    10463544
  • 财政年份:
    2021
  • 资助金额:
    $ 153.33万
  • 项目类别:
Core A - Administrative
核心 A - 行政
  • 批准号:
    10613358
  • 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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合理设计可快速翻译、高抗原性和新型重组免疫原,以解决当前蛇咬伤治疗的缺陷
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