Common Complex Trait Genetics of Reproductive Phenotypes

NIH RePORTER · NIH · P50 · $256,461 · view on reporter.nih.gov ↗

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
MASSACHUSETTS GENERAL HOSPITAL
Principal Investigator
Benjamin Michael Neale
Activity code
P50
Funding institute
NIH
Fiscal year
2020
Award amount
$256,461
Award type
5
Project period
— → 2021-09-30