权益分类	功能权益	普通用户	{{item.name}}会员
{{category.name}}	{{benefitItem.name}}

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：
Stephanie Beth Seminara
金额：
$ 153.33万
依托单位：
MASSACHUSETTS GENERAL HOSPITAL
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：
https://reporter.nih.gov/project-details/10613357
关键词：
Acceleration Address Affect Age Architecture Biological Biological Factors Biological Process Boston Brain Center for Translational Science Activities Child Clinical Clinical Research Clinical Treatment Collection Communication Communities Computational Biology Counseling Couples Creativeness DNA Data Analytics Denmark Diagnosis Disease Education and Outreach Endocrinology Estonia Ethnic Population Faculty Family Fertility Financial Hardship Finland Fostering Future GNRH1 gene General Hospitals Genes Genetic Genetic Engineering Genomics Genotype Goals Gonadal structure Group Meetings Gynecology Health Hospitals Human Human Development Human Engineering Hypogonadism Individual Infertility Information Dissemination Institution Interdisciplinary Study International Investigation Investments Knowledge Lead Leadership Link Longitudinal Studies Massachusetts Mendelian randomization Mentors Mentorship Methodology Methods Morbidity - disease rate Mutation National Institute of Child Health and Human Development Operative Surgical Procedures Parents Pathway interactions Patients Pediatrics Penetrance Phenotype Physiological Population Population Genetics Positioning Attribute Prevention Provider Public Health Rare Diseases Reproduction Reproductive Biology Reproductive Health Reproductive Medicine Research Research Personnel Research Project Grants Resources Role Sampling Scientist Services Strategic vision Technology Therapeutic Thinking Training Translational Research Urology Validation Work biobank clinical care clinical investigation clinical translation cohort community engagement computerized tools cost design evidence base flexibility functional genomics gene discovery gene function genetic architecture genome editing genome wide association study genomic variation gonad development human disease improved induced pluripotent stem cell infertility treatment innovation lens literacy member mortality multi-ethnic neuron development next generation next generation sequencing outreach phenome phenomics population based psychologic reproductive sex skills targeted treatment trait transcriptomics translational scientist web 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：
GENES
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：
ORPHANET JOURNAL OF RARE DISEASES
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：
HEALTHCARE
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.