# The Massachusetts General Hospital Harvard Center for Reproductive Medicine

> **NIH NIH P50** · MASSACHUSETTS GENERAL HOSPITAL · 2022 · $1,550,426

## Abstract

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...

## Key facts

- **NIH application ID:** 10463543
- **Project number:** 5P50HD104224-02
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** Stephanie Beth Seminara
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $1,550,426
- **Award type:** 5
- **Project period:** 2021-08-10 → 2026-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10463543

## Citation

> US National Institutes of Health, RePORTER application 10463543, The Massachusetts General Hospital Harvard Center for Reproductive Medicine (5P50HD104224-02). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/10463543. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*