Notice of Intent to Publish Funding Opportunity Announcements for Mendelian Genomics Research Consortium

Notice Number: NOT-HG-20-009

Key Dates

Release Date: November 05, 2019
Estimated Publication Date of Funding Opportunity Announcement: January 15, 2020
First Estimated Application Due Date: April 15, 2020
Earliest Estimated Award Date: December 01, 2020
Earliest Estimated Start Date: December 01, 2020

Related Announcements

Issued by
National Human Genome Research Institute (NHGRI)


The National Human Genome Research Institute, intends to promote a new initiative by publishing two related Requests for Applications to solicit applications for research in the area of Mendelian Genomics Research:

RFA-HG-20-007: Mendelian Genomics Research Centers (U01 - Clinical Trial Optional)

The purpose of this RFA is to establish a consortium 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.

RFA-HG-20-008: Mendelian Genomics Data Coordination Center (U24 - Clinical Trial Not Allowed)

The purpose of this FRA is to solicit applications to develop and implement a Data Coordination Center (DCC) for the Mendelian Genomics Research Consortium. The DCC will receive data and metadata from the MGRCs, ensure the information is complete and appropriately harmonized, and submit it to appropriate resources (e.g., AnVIL, ClinVar, and MatchMaker Exchange). 

This Notice is being provided to allow potential applicants sufficient time to develop meaningful collaborations and responsive projects.

The FOA is expected to be published in the early winter of 2020 with an expected application due date in the Spring 2020.

. Details of the planned FOA are provided below.

Research Initiative Details

The Mendelian Genomics Research Centers will be expected to:

  • Use large scale sequencing approaches to identify the underlying genetic basis of Mendelian phenotypes and traits that have yet to be associated with a gene, in particular those were not initially solved using whole exome sequencing, by developing and applying alternative analysis strategies, incorporating additional data types, or other methods.
  • Identify samples for sequencing or re-analysis, prioritizing those that have been consented for the broadest level of data sharing (i.e. “General Research Use”, with no additional restrictions; see NOT-HG-15-038).
  • Develop scalable approaches for interpretation and functional follow up of candidate variants, with the goal of prioritizing and confirming suggestive gene/phenotype associations.
  • Actively collaborate within the Mendelian Genomics Research Consortium, including working with the Mendelian Genomics Data Coordinating Center to share findings, variant- and sequence-level data, phenotype data, and other resources with the broader research community.

The Mendelian Genomics Data Coordinating Center will be expected to:

  • Receive molecular data, phenotype data, and other metadata from the Mendelian Genomics Research Centers and ensure that quality controlled, complete data and variant level information are submitted to AnVIL, ClinVar, Matchmaker Exchange, and other resources, as appropriate, using FAIR principles.
  • Develop the capacity to share sequence and phenotype data from unsolved and other more complex cases (such as phenotype expansions) in a manner that fits within the larger ecosystem of Mendelian and rare disease research – i.e. an Unsolved Cases Clearinghouse.
  • Oversee and administer an opportunity fund program, coordinating receipt and review of applications in high priority research areas, and making sub-awards to successful applicants.
  • Develop a user-friendly portal for disseminating the findings of the program
  • Coordinate logistical aspects of the consortium, such as organizing working groups, meetings, and consortium-wide communication.

Funding Information

Estimated Total Funding TBD
Expected Number of Awards TBD
Estimated Award Ceiling TBD
Primary CFDA Numbers 93.172

Anticipated Eligible Organizations

Public/State Controlled Institution of Higher Education
Private Institution of Higher Education
Nonprofit with 501(c)(3) IRS Status (Other than Institution of Higher Education)
Small Business
For-Profit Organization (Other than Small Business)
State Government
Indian/Native American Tribal Government (Federally Recognized)
County governments
Indian/Native American Tribally Designated Organization (Native American tribal organizations (other than Federally recognized tribal governments)
U.S. Territory or Possession
Indian/Native American Tribal Government (Other than Federally Recognized)
Eligible Agencies of the Federal Government

Applications are not being solicited at this time. 


Please direct all inquiries to:

Lisa Helbling Chadwick, Ph.D.
National Human Genome Research Institute