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The GREGoR Consortium

Genetics 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.


The National Human Genome Research institute funded the GREGoR Consortium in 2020. 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.

Pre-Application Webinar

Watch the Recorded Webinar | WebEx Tutorial

February 12, 202012:00 - 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 Announcements

  • RFA-HG-20-007: Mendelian Genomics Research Centers (U01 - Clinical Trial Optional)
    Application Due Date: April 15, 2020
  • RFA-HG-20-008: Mendelian Genomics Data Coordinating Center (U24 Clinical Trial Not Allowed)
    Application Due Date: April 15, 2020


Lisa Chadwick
Lisa H. Chadwick, Ph.D.
  • Program Director Genome Sciences
  • Division of Genome Sciences
Chris Wellington, B.S.
Chris Wellington, B.S.
  • Program Director Computational Genomics and Data Science
  • Division of Genome Sciences
Grace Snyder
Grace "Gigi" Snyder
  • Scientific Program Analyst
  • Division of Genome Sciences

Last updated: November 2, 2021