# Common Complex Trait Genetics of Reproductive Phenotypes

> **NIH NIH P50** · MASSACHUSETTS GENERAL HOSPITAL · 2020 · $256,461

## Abstract

Project Summary/Abstract: Project 2
Genetic analysis of rare, severe Mendelian reproductive conditions has highlighted the critical importance
of GnRH neurons in pathophysiology. To further elucidate these biological processes, we will extend the
genetic investigations to analyses of common variation on the following common reproductive clinical
disorders: polycystic ovarian syndrome (PCOS), primary ovarian insufficiency (POI), and
hypothalamic amenorrhea (HA). Specifically, we will 1) accelerate the discovery of novel genetic
influences on reproductive phenotypes through large-scale international consortia; 2) integrate these new
genetic discoveries with the Mendelian analyses of P1 to nominate genes and variants for P3; and 3)
synthesize the genetic results across complex reproductive traits to understand how they relate as well as
characterizing the phenotypic and biological consequences of validated genes and variants from zebrafish
P3 through deep phenotyping. If successful, we will uncover new genes and variants for reproductive
clinical endpoints, provide these for functional validation and then interpret the full range of phenotypic
consequences of these genetic influences.

## Key facts

- **NIH application ID:** 9910433
- **Project number:** 5P50HD028138-30
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** Benjamin Michael Neale
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $256,461
- **Award type:** 5
- **Project period:** — → 2021-09-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9910433

## Citation

> US National Institutes of Health, RePORTER application 9910433, Common Complex Trait Genetics of Reproductive Phenotypes (5P50HD028138-30). Retrieved via AI Analytics 2026-06-14 from https://api.ai-analytics.org/grant/nih/9910433. Licensed CC0.

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