Mendelian Disorders Genome Centers (U54) | Apply Online

Frequently Asked Questions (FAQs)

What is the Mendelian Disorders Genome Centers (U54) funding opportunity?

It is an NIH funding opportunity (RFA-HG-10-016), led by the National Human Genome Research Institute (NHGRI), to create one or more large, coordinated research centers focused on finding the genetic changes that cause Mendelian disorders and other clearly heritable, health-related Mendelian phenotypes in humans.

What is the main goal of the program?

The main goal is to use genome-wide sequencing and complementary genomic technologies at scale to identify the specific variants responsible for as many Mendelian conditions as possible during the project period, prioritizing productivity and clear gene/variant identification outcomes.

Is this program focused on a single disease area or multiple phenotypes?

It is intended to support broad discovery across many phenotypes rather than targeting a single disease area.

What types of research activities are expected?

Expected activities include genome-wide sequencing and complementary genomic technologies, analysis and interpretation of candidate variants, and systematic testing and refinement of study designs, sequencing strategies, and analysis pipelines for Mendelian trait mapping.

What makes this a "center" program rather than a typical single-project grant?

The program is designed to fund large, coordinated research centers that function as engines of gene discovery and as proving grounds for method development, with an emphasis on scalable, replicable workflows that can be used by the broader research community.

What is meant by building a "practical foundation" for the broader research community?

Beyond individual discoveries, the centers are expected to develop and demonstrate workable approaches for Mendelian gene discovery (study designs, sequencing strategies, analysis pipelines, and workflows) and disseminate lessons learned and useful data so other investigators can adopt effective methods and avoid inefficient approaches.

What kinds of tradeoffs does the FOA expect centers to address?

The announcement highlights real-world genomic research tradeoffs such as cost versus coverage, speed versus depth, and efficiency versus data quality, with the expectation that centers will test and refine approaches under these constraints.

What does "tractability" mean in the context of this opportunity?

"Tractability" refers to defining the practical limits of current genomic methods for Mendelian discovery, including which kinds of Mendelian conditions can be solved readily with state-of-the-art sequencing and analytics, which require additional data types or technologies, and which remain difficult.

What factors can make some Mendelian conditions difficult to solve genetically?

The FOA notes challenges such as genetic heterogeneity, incomplete penetrance, phenotyping limitations, and structural and non-coding variation.

Is dissemination of findings and lessons learned part of the program expectations?

Yes. NHGRI intends for insights, lessons learned, and useful data to be disseminated broadly so the wider research community can move faster and avoid duplicating inefficient approaches.

What grant mechanism is used for this opportunity?

The opportunity uses a Cooperative Agreement mechanism (U54), which typically indicates substantial NIH program involvement and active coordination between awardees and the agency compared with standard investigator-initiated grants.

Is this a discretionary grant program?

Yes. It is described as a discretionary grant program.

Which NIH institute leads this program?

The program is led through the National Human Genome Research Institute (NHGRI).

What is the estimated total funding amount and how many awards were expected?

The estimated total funding level is about $10,000,000, with an expectation of two awards.

Is cost sharing or matching required?

No. Cost sharing or matching is not required.

What is the CFDA number associated with this program?

The CFDA number is 93.172 (Human Genome Research).

When was the opportunity posted and what were the closing dates?

It was posted on December 14, 2010. The original and final closing date was March 3, 2011.

Is this funding opportunity currently open?

No. It is a historical, closed competition. An archive date of April 3, 2011 is listed, indicating the announcement is archived rather than open for new applications.

What types of organizations are eligible to apply?

Eligibility is broad and includes public and private institutions of higher education (including public/state-controlled institutions), nonprofit organizations (both 501(c)(3) and non-501(c)(3) entities outside of higher education), for-profit organizations (including small businesses and other for-profits), and multiple levels of government (state, county, city/township), as well as special district governments and independent school districts.

Are minority-serving and community-linked institutions included in eligibility?

Yes. The FOA explicitly recognizes eligibility for institutions and organizations including Historically Black Colleges and Universities (HBCUs), Hispanic-serving institutions, Alaska Native and Native Hawaiian Serving Institutions, Tribally Controlled Colleges and Universities (TCCUs), federally recognized and other tribal governments, faith-based or community-based organizations, regional organizations, and U.S. territories or possessions.

Does the opportunity allow applications from tribal governments?

Yes. Federally recognized and other tribal governments are explicitly included as eligible applicants.

Does the opportunity allow applications from for-profit organizations?

Yes. For-profit organizations, including small businesses and other for-profits, are included as eligible applicants.

Does the opportunity allow applications from local governments and school districts?

Yes. State, county, and city/township governments are listed as eligible, along with special district governments and independent school districts.

What kinds of capabilities are implied for competitive applicant teams?

The opportunity is aimed at teams that can combine clinical and phenotypic expertise (to define and collect well-characterized Mendelian cases and families) with high-throughput sequencing capacity and strong computational genomics (to analyze, interpret, and validate candidate variants).

What kinds of deliverables are implied by the announcement?

Deliverables implied include identification of genes/variants responsible for Mendelian conditions, as well as mature, scalable approaches for Mendelian gene discovery that can be shared and reused, helping establish standards for study design and analysis across the field.

Where was the archived announcement hosted and who was listed for technical issues?

The full archived announcement was hosted on the NIH grants site under the provided link, and NIH's Office of Extramural Research webmaster contacts were listed for technical access issues.