Opportunity Information: Apply for RFA HG 20 007

The Mendelian Genomics Research Centers (U01 Clinical Trial Optional) funding opportunity (RFA-HG-20-007) is a National Institutes of Health cooperative agreement designed to build a coordinated consortium that can substantially raise the share of Mendelian (single-gene) disorders for which the underlying genetic cause is known. The central scientific aim is to move beyond cases where whole exome sequencing (WES) alone did not produce a credible candidate gene, and to develop and apply stronger discovery strategies that can still identify causal genes and variants. In practical terms, the program is focused on solving the "unsolved" Mendelian cases by pushing methods, data generation, analysis pipelines, and collaborative practices that can reveal disease-causing mechanisms that standard WES approaches may miss.

A major emphasis of these centers is methodological innovation and application. That includes approaches that can capture or interpret genetic causes outside the reach of exome sequencing, such as variants in non-coding or regulatory regions, structural variants, repeat expansions, mosaicism, complex rearrangements, difficult-to-sequence genomic regions, and other forms of variation that are often underdetected or hard to interpret with WES-only workflows. The expectation is that awardees will operate as part of a consortium, meaning the work is meant to be coordinated, data-driven, and structured around shared goals, shared resources, and collective progress toward gene discovery rather than isolated single-lab projects.

The award mechanism is a U01 cooperative agreement, which typically signals substantial NIH scientific/programmatic involvement during the project. While clinical trials are optional under this announcement, the thrust of the opportunity is fundamentally about gene discovery for Mendelian disease and the research approaches needed to reach diagnoses where prior sequencing efforts have not succeeded. The funding activity is in the health category, with CFDA number 93.172, and the awarding agency is NIH. The listed award ceiling is $2,000,000, indicating that projects may be supported at a fairly large scale consistent with center-like operations, advanced sequencing or multi-omic strategies, and consortium participation.

Eligibility is broad across many U.S.-based organization types. Eligible applicants include state, county, city/township, and special district governments; independent school districts; public and state-controlled institutions of higher education; private institutions of higher education; federally recognized Native American tribal governments; tribal organizations other than federally recognized tribal governments; public housing authorities/Indian housing authorities; nonprofits with or without 501(c)(3) status (excluding higher education institutions in those nonprofit categories); for-profit organizations other than small businesses; small businesses; and other entities. The announcement also explicitly calls out additional eligible applicant types such as Alaska Native and Native Hawaiian Serving Institutions, Asian American Native American Pacific Islander Serving Institutions (AANAPISIs), Hispanic-serving Institutions, Historically Black Colleges and Universities (HBCUs), Tribally Controlled Colleges and Universities (TCCUs), faith-based or community-based organizations, eligible agencies of the federal government, regional organizations, Indian/Native American Tribal Governments (other than federally recognized), and U.S. territories or possessions.

At the same time, there are clear limits regarding non-U.S. applicants. Non-domestic (non-U.S.) entities and non-domestic (non-U.S.) institutions are not eligible to apply, and non-domestic components of U.S. organizations are also not eligible to apply. However, foreign components, as defined in the NIH Grants Policy Statement, are allowed. In other words, the applicant organization must be domestic and eligible, but certain foreign collaborations or project elements may be permissible if they meet NIH's definition and policy requirements for foreign components.

Key administrative details from the source information include an original closing date of July 15, 2020, and a creation date of January 13, 2020. The opportunity is categorized as discretionary and uses a cooperative agreement funding instrument, underscoring NIH's interest in an actively managed, collaborative program structured around measurable progress in Mendelian gene discovery and the development of approaches that can solve cases left unresolved by exome sequencing alone.

  • The National Institutes of Health in the health sector is offering a public funding opportunity titled "Mendelian Genomics Research Centers (U01 Clinical Trial Optional)" and is now available to receive applicants.
  • Interested and eligible applicants and submit their applications by referencing the CFDA number(s): 93.172.
  • This funding opportunity was created on 2020-01-13.
  • Applicants must submit their applications by 2020-07-15. (Agency may still review applications by suitable applicants for the remaining/unused allocated funding in 2026.)
  • Each selected applicant is eligible to receive up to $2,000,000.00 in funding.
  • Eligible applicants include: State governments, County governments, City or township governments, Special district governments, Independent school districts, Public and State controlled institutions of higher education, Native American tribal governments (Federally recognized), Public housing authorities/Indian housing authorities, Native American tribal organizations (other than Federally recognized tribal governments), Nonprofits having a 501 (c) (3) status with the IRS, other than institutions of higher education, Nonprofits that do not have a 501 (c) (3) status with the IRS, other than institutions of higher education, Private institutions of higher education, For-profit organizations other than small businesses, Small businesses, Others.
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