Opportunity Information: Apply for RFA RM 13 003
Apply for RFA RM 13 003
- The National Institutes of Health in the health sector is offering a public funding opportunity titled "Undiagnosed Diseases Gene Function Research (R21)" and is now available to receive applicants.
- Interested and eligible applicants and submit their applications by referencing the CFDA number(s): 93.310 Trans NIH Research Support.
- This funding opportunity was created on Apr 2, 2013 and posted on Apr 2, 2013.
- Applicants must submit their applications by Jun 14, 2013. (Agency may still review applications by suitable applicants for the remaining/unused allocated funding in 2026.)
- The funding agency has allocated a total of $650,000.00 to eligible and selected applicants.
- Each selected applicant is eligible to receive up to $250,000.00 in funding.
- Eligible applicants include: Public housing authorities/Indian housing authorities Native American tribal governments (Federally recognized) Nonprofits having a 501(c)(3) status with the IRS, other than institutions of higher education Independent school districts Public and State controlled institutions of higher education County governments Native American tribal organizations (other than Federally recognized tribal governments) Special district governments Others (see text field entitled Additional Information on Eligibility for clarification) Private institutions of higher education Nonprofits that do not have a 501(c)(3) status with the IRS, other than institutions of higher education Small businesses For profit organizations other than small businesses State governments City or township governments.
- Other Eligible Applicants include the following Alaska Native and Native Hawaiian Serving Institutions Asian American Native American Pacific Islander Serving Institutions (AANAPISISs) Eligible Agencies of the Federal Government Faith based or Community based Organizations Hispanic serving Institutions Historically Black Colleges and Universities (HBCUs) Indian/Native American Tribal Governments (Other than Federally Recognized) Non domestic (non U.S.) Entities (Foreign Organizations) Regional Organizations Tribally Controlled Colleges and Universities (TCCUs) U.S. Territory or Possession Non domestic (non U.S.) Entities (Foreign Institutions) are eligible to apply. Non domestic (non U.S.) components of U.S. Organizations are eligible to apply. Foreign components, as defined in the NIH Grants Policy Statement, are allowed.
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Opportunity Summary:
The Undiagnosed Diseases Gene Function Research (R21) opportunity (Funding Opportunity Number RFA-RM-13-003) was a National Institutes of Health (NIH) grant initiative designed to spur early, exploratory research that helps explain how specific gene variants cause disease in patients with extremely rare and newly characterized conditions. It specifically targets studies that move beyond simply identifying a candidate variant and instead dig into what that variant actually does at a functional level, whether through genetics, biochemistry, cell biology, physiology, or other approaches that clarify disease mechanisms. The program is built to work in close connection with the Undiagnosed Diseases Network (UDN), and it builds on experience from the NIH Intramural Research Program's Undiagnosed Diseases Program (NIH UDP). In practical terms, the expectation is that investigators use UDN-identified variants and patient-linked discoveries as the starting point, then generate functional evidence that ties a gene to a disease process and explains pathophysiology.
The scientific focus is on gene function studies that can validate and characterize the biological impact of variants discovered through the UDN, especially in the context of newly diagnosed or newly defined disorders. The announcement emphasizes investigations into underlying genetics, biochemistry, and/or pathophysiology, reflecting the idea that diagnoses and mechanistic insight often come from combining genomic findings with functional assays and metabolic or systems-level studies. The broader motivation is that rare disease cases frequently involve genes with limited prior annotation, unclear pathways, or variants of uncertain significance, and functional experiments can be the difference between a tentative genetic lead and a confident diagnosis with a coherent mechanistic story. By supporting this kind of work, NIH aimed to accelerate both patient diagnoses and general biological knowledge about how these genes and pathways operate.
This funding opportunity used the NIH R21 mechanism, which is typically meant for developmental, high-impact, and sometimes higher-risk projects that need seed funding to establish feasibility, generate key functional data, or rapidly test mechanistic hypotheses. The funding instrument type was a grant, and the activity category was health (CFDA 93.310, listed as trans-NIH research support). The initiative was supported by the NIH Common Fund, which is reserved for cross-cutting programs expected to have unusually broad and significant impact across many areas of biomedical research. That Common Fund framing is important because it signals that the program was not just about solving individual cases; it was also about creating generalizable knowledge, approaches, and insights that can ripple across genetics, diagnostics, and disease biology.
In terms of scale, the opportunity listed an estimated total funding amount of $650,000, with an award ceiling of $250,000. Cost sharing or matching was not required, which lowers barriers for organizations that may not have discretionary funds to contribute. While the announcement text provided here does not specify the exact number of awards anticipated, the total funding level and per-award cap suggest a relatively small cohort of competitively selected projects intended to produce focused, high-value functional results rather than large multi-year programs.
Eligibility was broad and included a wide range of domestic and non-domestic entities. Eligible applicants included public and private institutions of higher education, nonprofit organizations (with and without 501(c)(3) status), small businesses, for-profit entities (including those other than small businesses), and multiple levels of government (state, county, city/township, special district governments). The eligibility list also explicitly included tribal governments and tribal organizations, independent school districts, public housing authorities/Indian housing authorities, and a variety of institution types such as Historically Black Colleges and Universities (HBCUs), Hispanic-serving institutions, Tribally Controlled Colleges and Universities (TCCUs), and Alaska Native and Native Hawaiian-serving institutions. Importantly, foreign organizations and foreign institutions were eligible to apply, and foreign components (as defined by NIH policy) were allowed, meaning international expertise and specialized model systems or assays outside the U.S. could be brought into these collaborative gene function efforts when justified.
Administratively, the opportunity was posted on April 2, 2013, with an original and current closing date of June 14, 2013, and it was archived on July 15, 2013. The sponsoring agency was NIH, and the full announcement was hosted via the NIH Grants Guide (link provided in the source). Contact details in the notice were oriented to technical access issues, directing applicants to the NIH Office of Extramural Research (OER) webmaster for help with accessing or linking to the full funding announcement.
Overall, this R21 opportunity can be understood as targeted “bridge funding†meant to turn rare-disease genomic discoveries coming out of the UDN into functional, mechanistic evidence. The end goal is to strengthen causal links between variants and disease, sharpen diagnostic confidence, and uncover biological pathways that can inform future research directions, and potentially, longer-term therapeutic ideas.
Frequently Asked Questions (FAQs)
What is the Undiagnosed Diseases Gene Function Research (R21) opportunity?
It is an NIH grant initiative (Funding Opportunity Number RFA-RM-13-003) created to support early, exploratory research that explains how specific gene variants cause disease in patients with extremely rare and newly characterized conditions. The emphasis is on moving beyond variant identification into functional and mechanistic studies that clarify what a variant does biologically and how it leads to disease.
Which NIH funding mechanism does this opportunity use?
This opportunity uses the NIH R21 mechanism, which is typically intended for developmental, high-impact, and sometimes higher-risk projects that need seed funding to establish feasibility, generate key functional data, or rapidly test mechanistic hypotheses.
What is the Funding Opportunity Number (FON) for this announcement?
The Funding Opportunity Number is RFA-RM-13-003.
What kind of research does this program want to fund?
The program targets gene function research that validates and characterizes the biological impact of variants discovered through the Undiagnosed Diseases Network (UDN), particularly for newly diagnosed or newly defined disorders. Studies are expected to produce functional evidence that ties a gene to a disease process and explains the pathophysiology.
Does the program fund work that only identifies candidate variants?
The focus is specifically on work that goes beyond simply identifying a candidate variant. Projects are expected to investigate functional consequences and disease mechanisms, using approaches that clarify how a variant contributes to disease.
What scientific approaches are encouraged for studying gene function?
The announcement highlights functional work using genetics, biochemistry, cell biology, physiology, and other approaches that clarify disease mechanisms and pathophysiology. It emphasizes combining genomic findings with functional assays and metabolic or systems-level studies when appropriate.
How is this opportunity connected to the Undiagnosed Diseases Network (UDN)?
The program is designed to work in close connection with the UDN. Investigators are expected to use UDN-identified variants and patient-linked discoveries as the starting point and then develop functional evidence linking those variants to disease mechanisms.
How does this initiative relate to the NIH Undiagnosed Diseases Program (UDP)?
It builds on experience from the NIH Intramural Research Program's Undiagnosed Diseases Program (NIH UDP), reflecting lessons learned about how functional studies can convert genomic leads into stronger diagnoses and mechanistic insight.
Why does NIH emphasize functional studies for rare and newly defined diseases?
Rare disease cases often involve genes with limited prior annotation, unclear pathways, or variants of uncertain significance. Functional experiments can provide the evidence needed to turn a tentative genetic lead into a confident diagnosis supported by a coherent mechanistic explanation.
What are the broader goals of the program beyond individual patient cases?
In addition to accelerating diagnoses, the program aims to generate generalizable biological knowledge about how genes and pathways operate. This is intended to produce insights and approaches that can ripple across genetics, diagnostics, and disease biology.
What is the role of the NIH Common Fund in this opportunity?
The initiative was supported by the NIH Common Fund, which backs cross-cutting programs expected to have unusually broad and significant impact across many areas of biomedical research. This signals an emphasis on broadly useful knowledge and methods, not only solving individual cases.
What is the estimated total funding available under this opportunity?
The estimated total funding amount listed is $650,000.
What is the maximum award amount (award ceiling)?
The award ceiling listed is $250,000.
How many awards will be made?
The information provided does not specify the exact number of awards anticipated. However, the total funding level and per-award cap suggest a relatively small number of competitively selected projects.
Is cost sharing or matching required?
No. Cost sharing or matching is not required.
What type of funding instrument is used?
The funding instrument type is a grant.
What is the activity category for this opportunity?
The activity category is health, and it is associated with CFDA 93.310 (listed as trans-NIH research support).
Who is eligible to apply?
Eligibility is broad and includes public and private institutions of higher education, nonprofit organizations (with and without 501(c)(3) status), small businesses, for-profit entities (including those other than small businesses), and multiple levels of government (state, county, city/township, and special district governments). It also includes tribal governments and tribal organizations, independent school districts, and public housing authorities/Indian housing authorities.
Are specific institution types explicitly included in the eligibility list?
Yes. The eligibility list explicitly includes institution types such as Historically Black Colleges and Universities (HBCUs), Hispanic-serving institutions, Tribally Controlled Colleges and Universities (TCCUs), and Alaska Native and Native Hawaiian-serving institutions.
Are foreign (non-U.S.) organizations eligible to apply?
Yes. Foreign organizations and foreign institutions are eligible to apply.
Are foreign components allowed under NIH policy?
Yes. Foreign components (as defined by NIH policy) are allowed, enabling international expertise or specialized assays and model systems outside the U.S. when justified.
When was the opportunity posted?
It was posted on April 2, 2013.
What was the closing date for applications?
The original and current closing date listed was June 14, 2013.
Is this funding opportunity still open?
No. The opportunity was archived on July 15, 2013, and the closing date listed was June 14, 2013.
Which agency sponsored this funding opportunity?
The sponsoring agency was the National Institutes of Health (NIH).
Where was the full announcement hosted?
The full announcement was hosted via the NIH Grants Guide (as referenced in the source information).
Who should be contacted for technical access issues related to the announcement?
The contact details in the notice were oriented to technical access issues and directed applicants to the NIH Office of Extramural Research (OER) webmaster for help with accessing or linking to the full funding announcement.
What is the practical expectation for investigators applying to this program?
Investigators are expected to start from UDN-identified variants and patient-linked discoveries and then generate functional evidence that ties a gene to a disease process and explains the underlying pathophysiology.
How can this program be described in practical terms?
It can be understood as targeted bridge funding intended to turn rare-disease genomic discoveries coming out of the UDN into functional, mechanistic evidence that strengthens causal links between variants and disease and sharpens diagnostic confidence.
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