The GREGoR Consortium

Genomics Research to Elucidate the Genetics of Rare Diseases

The GREGoR Consortium is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.

Data Coordinating Center Website

Overview

The National Human Genome Research institute funded the GREGoR Consortium in 2021. The program comprises five Research Centers (RCs) and a Data Coordinating Center (DCC). The research centers will sequence samples from patients with Mendelian conditions and develop and apply novel approaches to discover causal variants. The centers will also aim to solve “unsolved” cases for which a candidate gene was not identified by solely using whole exome sequencing. The DCC will manage data release and disseminate findings; coordinate program logistics and administrative duties, and oversee an Opportunity Fund for follow-up functional studies of discoveries made by the GREGoR Consortium research centers.

To learn more, please visit the GREGoR Consortium website.

Events

Identifying Research Priorities to Accelerate Genetic Diagnosis
April 16-17, 2024

GREGOR Pre-Application Webinar | WebEx Tutorial

February 12, 2020, 12:00 - 1:30 p.m., Eastern, NHGRI hosted a pre-application webinar for the Mendelian Genomics Research Consortium funding opportunities. NHGRI staff members provided an overview of the two FOAs, the goals and objectives of the program, and the application review process.

Participation in this webinar was optional and was not required to submit an application in response to RFA-HG-20-007 or RFA-HG-20-2008.

Answers to Frequently Asked Questions will be made available.

Funding Opportunities

Active

At this time, there are no current funding opportunities.

Expired

RFA-HG-20-007: Mendelian Genomics Research Centers (U01 - Clinical Trial Optional)
RFA-HG-20-008: Mendelian Genomics Data Coordinating Center (U24 Clinical Trial Not Allowed)

Grantee Information

Component	Principal Investigator	Institution	Title	Grant Number
Mendelian Genomics Coordinating Center	Susanne May	University of Washington	University of Washington (UW) Mendelian Genomics Data Coordinating Center	U24HG011746
Mendelian Genomics Research Centers	Stephen Montgomery	Stanford University	Stanford Mendelian Genomics Research Center	U01HG011762
	Anne Luria-O’Donnell	Broad Institute	Broad Institute Mendelian Genomic Research Center	U01HG011755
	Jennifer Posey	Baylor College of Medicine	Baylor College of Medicine - Mendelian Genomics Research Center	U01HG011758
	Eric Vilain	University of California – Irvine	Pediatric Mendelian Genomics Research Center	U01HG011745
	Chia-Lin Wei	University of Washington	University of Washington Mendelian Genomics Research Center	U01HG011744

Staff

Program Directors

Lisa H. Chadwick, Ph.D.

Deputy Director
Division of Genome Sciences

Chris Wellington, B.S.

Program Director, Computational Genomics and Data Science
Office of Genomic Data Science

Ismail Safi, Pharm.D.

Program Specialist
Division of Genome Sciences

Program Analysts

Gabrielle Villard, B.S.

Scientific Program Analyst
Division of Genome Sciences

Last updated: March 31, 2025