Opportunity Information: Apply for RFA HL 12 007
Apply for RFA HL 12 007
- The National Institutes of Health in the health sector is offering a public funding opportunity titled "Life After Linkage The Future of Family Studies (R01)" and is now available to receive applicants.
- Interested and eligible applicants and submit their applications by referencing the CFDA number(s): 93.172 Human Genome Research 93.233 National Center on Sleep Disorders Research 93.837 Cardiovascular Diseases Research 93.838 Lung Diseases Research 93.839 Blood Diseases and Resources Research.
- This funding opportunity was created on Apr 8, 2011 and posted on Apr 8, 2011.
- Applicants must submit their applications by Jun 15, 2011. (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 $350,000.00 in funding.
- Eligible applicants include: Native American tribal organizations (other than Federally recognized tribal governments) Small businesses Public housing authorities/Indian housing authorities County governments Public and State controlled institutions of higher education For profit organizations other than small businesses City or township governments Nonprofits that do not have a 501(c)(3) status with the IRS, other than institutions of higher education Private institutions of higher education Others (see text field entitled Additional Information on Eligibility for clarification) Special district governments Independent school districts Nonprofits having a 501(c)(3) status with the IRS, other than institutions of higher education Native American tribal governments (Federally recognized) State governments.
- Other Eligible Applicants include the following Alaska Native and Native Hawaiian Serving Institutions 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) Regional Organizations Tribally Controlled Colleges and Universities (TCCUs) U.S. Territory or Possession Non domestic (non U.S.) Entities (Foreign Organizations) are not eligible to apply. Foreign (non U.S.) components of U.S. Organizations are not allowed.
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Opportunity Summary:
Life After Linkage: The Future of Family Studies (R01) (Funding Opportunity Number RFA-HL-12-007) was a National Institutes of Health discretionary grant opportunity led by the National Heart, Lung, and Blood Institute (NHLBI) in partnership with the National Human Genome Research Institute (NHGRI). The central goal was to push family-based genetic research beyond traditional linkage and early-era association approaches by combining already-existing family genotype and phenotype datasets with newer, richer molecular measurements. The program was aimed at identifying and characterizing genes and biological mechanisms that influence complex disorders, especially where family structures and prior evidence (such as linkage peaks or other genomic signals) suggest that deeper molecular follow-up could be particularly informative.
A key feature of this FOA is that it was not intended for brand-new family recruitment efforts starting from scratch. Instead, applicants were expected to have access to previously studied families for which at least some genotyping and phenotype information already existed. In practical terms, the NIH was trying to capitalize on valuable legacy family cohorts by adding modern layers of molecular data to help pinpoint causal genes, variants, and pathways that were not resolvable using older marker sets or limited genotyping platforms. The opportunity encouraged creative and efficient study designs that use what is already known about a cohort to guide what to measure next.
The FOA specifically encouraged proposals that used focused ascertainment strategies within family datasets. Rather than sequencing everyone, investigators could prioritize families or individuals based on factors such as high genetic risk profiles, extreme phenotypes, unusual trait distributions within pedigrees, or disproportionate contributions to prior linkage or association signals. This kind of targeted selection was framed as a way to boost power and interpretability while keeping costs and complexity manageable, which is often critical in family studies where sample sizes may be smaller but information content per individual can be high.
On the data generation side, the announcement supported adding a broad range of modern molecular assays. Examples explicitly called out included targeted sequencing and whole genome sequencing, exon (exome) sequencing, detection and analysis of copy number variants (CNVs), expression profiling, metabolomics, epigenomic measurements, and the incorporation of novel biomarkers. The intent was not just to generate more data, but to generate data that could help explain the biology behind inherited risk and clarify how genetic variation translates into measurable traits and disease outcomes. Because many older family studies may not have collected biospecimens suitable for all contemporary assays, the FOA also anticipated that some projects might require additional sample collection and potentially reconsent of participants, emphasizing the practical and ethical considerations of re-contacting families and updating permissions for new types of analyses.
A major expectation of this opportunity was a strong analytic and computational component. Applications were expected to go beyond standard statistical genetics workflows and include serious bioinformatics and integrative analysis plans that combine multiple data types, such as sequence variation alongside expression, metabolite profiles, or epigenetic marks. In other words, the NIH was looking for proposals that could handle the complexity of multi-omic integration in the context of family structure, which introduces both opportunities (inheritance patterns, segregation information) and analytic challenges (relatedness, shared environment, pedigree-aware models). The overall emphasis was on deriving interpretable, biologically meaningful conclusions about genes and pathways contributing to complex traits.
Administratively, this was an R01 research project grant mechanism with an award ceiling listed at $350,000. No cost sharing or matching was required. The FOA was posted April 8, 2011, with an original and current closing date of June 15, 2011, and it was archived July 16, 2011. The funding activity category was Health, and the CFDA numbers associated with the opportunity reflected the NIH institutes and topic areas involved, including Human Genome Research (93.172), sleep disorders research (93.233), and cardiovascular, lung, and blood research programs (93.837, 93.838, 93.839).
Eligibility was broad across U.S.-based organizational types, spanning public and private institutions of higher education, nonprofit organizations (including 501(c)(3) and certain non-501(c)(3) entities), for-profit organizations other than small businesses, small businesses, and various government entities (state, county, city/township, special district governments, independent school districts), as well as public housing authorities and tribal organizations. The FOA also explicitly included eligibility for a range of mission-relevant or historically underrepresented institution types such as Historically Black Colleges and Universities (HBCUs), Hispanic Serving Institutions, Tribally Controlled Colleges and Universities (TCCUs), Alaska Native and Native Hawaiian Serving Institutions, and faith-based or community-based organizations, along with U.S. territories or possessions and certain regional organizations. At the same time, it clearly excluded non-domestic (non-U.S.) entities from applying, and it did not allow foreign components of U.S. organizations, keeping the supported research infrastructure and performance largely within the United States.
Taken together, the opportunity can be viewed as an effort to modernize and fully exploit family-based genetic resources by layering next-generation molecular profiling onto existing genotype-phenotype family datasets, with an emphasis on smart sampling, rigorous integrative analytics, and discovery of genes and mechanisms underlying complex disease. For investigators sitting on valuable family cohorts from earlier genetic eras, this FOA was essentially an invitation to revisit those families with current technology and computation to extract deeper biological insight than linkage or limited genotyping could provide on their own.
Frequently Asked Questions (FAQs)
What is the name and number of this funding opportunity?
The opportunity is titled Life After Linkage: The Future of Family Studies (R01) and the Funding Opportunity Number is RFA-HL-12-007.
Which agencies led and partnered on this FOA?
This was a National Institutes of Health (NIH) discretionary grant opportunity led by the National Heart, Lung, and Blood Institute (NHLBI) in partnership with the National Human Genome Research Institute (NHGRI).
What was the main scientific goal of the program?
The central goal was to move family-based genetic research beyond traditional linkage and early-era association approaches by combining existing family genotype and phenotype datasets with newer and richer molecular measurements, in order to identify and characterize genes and biological mechanisms influencing complex disorders.
What kinds of studies were this FOA trying to move beyond?
It explicitly aimed to push the field beyond classical family linkage studies and earlier-generation association approaches that often relied on older marker sets or limited genotyping platforms.
Was this FOA intended to support recruiting brand-new families?
No. A key feature was that it was not intended for brand-new family recruitment efforts starting from scratch. Applicants were expected to have access to previously studied families with at least some existing genotyping and phenotype information.
What did applicants need to already have in place to be competitive?
Based on the description, applicants were expected to have access to legacy family cohorts where some genotype data and phenotype data already existed, so that modern molecular layers could be added efficiently.
Why did NIH emphasize using existing family cohorts?
The FOA was designed to capitalize on valuable legacy family datasets by adding modern molecular data to help pinpoint causal genes, variants, and pathways that older approaches could not resolve.
What is meant by "focused ascertainment" in this FOA?
Focused ascertainment refers to strategically selecting which families or individuals within a family dataset to study more deeply (rather than analyzing everyone) based on features that may increase informativeness and power.
What were examples of focused ascertainment strategies encouraged by the FOA?
Examples included prioritizing families or individuals based on high genetic risk profiles, extreme phenotypes, unusual trait distributions within pedigrees, or disproportionate contributions to prior linkage or association signals.
Why would the FOA encourage targeted selection instead of sequencing everyone?
The FOA framed targeted selection as a way to increase power and interpretability while keeping costs and complexity manageable, which can be especially important in family studies where sample sizes may be smaller but each participant can be information-rich due to pedigree structure.
What types of molecular data generation did the FOA support?
The FOA supported adding a broad range of modern molecular assays to existing family resources, with the intention of producing data that helps explain biological mechanisms behind inherited risk.
Which specific assay types were explicitly mentioned?
Examples explicitly called out included targeted sequencing, whole genome sequencing, exon (exome) sequencing, copy number variant (CNV) detection and analysis, expression profiling, metabolomics, epigenomic measurements, and incorporation of novel biomarkers.
Did the FOA allow projects that require additional sample collection?
Yes. It anticipated that some projects might require additional sample collection because older family studies may not have biospecimens suitable for all contemporary assays.
Did the FOA mention reconsent or re-contacting participants?
Yes. The description notes that additional sample collection could involve recontacting families and potentially reconsenting participants, highlighting practical and ethical considerations when updating permissions for new analyses.
What level of analytics was expected in applications?
A major expectation was a strong analytic and computational component. Applications were expected to go beyond standard statistical genetics workflows and include serious bioinformatics and integrative analysis plans that combine multiple data types.
What does "multi-omic integration" mean in the context of this FOA?
In this FOA, multi-omic integration refers to combining multiple layers of biological data (for example, sequence variation together with expression, metabolite profiles, or epigenetic marks) and analyzing them in a way that accounts for family structure.
Why is analyzing family-structured data both useful and challenging?
The FOA points to opportunities such as leveraging inheritance patterns and segregation information, alongside challenges such as relatedness, shared environment, and the need for pedigree-aware analytic models.
What kind of outcomes was NIH looking for from funded projects?
The emphasis was on deriving interpretable, biologically meaningful conclusions about genes and pathways contributing to complex traits and disorders, clarifying how genetic variation translates into measurable traits and disease outcomes.
What grant mechanism was used?
The FOA used the R01 research project grant mechanism.
What was the award ceiling listed for this opportunity?
The award ceiling listed was $350,000.
Was cost sharing or matching required?
No. The FOA stated that no cost sharing or matching was required.
When was the FOA posted and when did it close?
It was posted on April 8, 2011. The original and current closing date was June 15, 2011.
Is this funding opportunity still active?
No. It was archived on July 16, 2011.
What was the funding activity category?
The funding activity category was Health.
Which CFDA numbers were associated with the FOA?
The description associates the opportunity with CFDA numbers tied to the participating NIH institutes and topic areas, including 93.172 (Human Genome Research), 93.233 (sleep disorders research), and 93.837, 93.838, 93.839 (cardiovascular, lung, and blood research programs).
Who was eligible to apply?
Eligibility was broad across U.S.-based organizations, including public and private institutions of higher education, nonprofit organizations (including 501(c)(3) and certain non-501(c)(3) entities), for-profit organizations other than small businesses, small businesses, and various government entities (state, county, city/township, special district governments, independent school districts), as well as public housing authorities and tribal organizations.
Were mission-relevant or historically underrepresented institution types included?
Yes. The FOA explicitly included eligibility for institution types such as Historically Black Colleges and Universities (HBCUs), Hispanic Serving Institutions, Tribally Controlled Colleges and Universities (TCCUs), Alaska Native and Native Hawaiian Serving Institutions, and faith-based or community-based organizations.
Did eligibility include U.S. territories or regional organizations?
Yes. The FOA included U.S. territories or possessions and certain regional organizations among eligible applicants.
Were non-U.S. (foreign) entities allowed to apply?
No. The FOA clearly excluded non-domestic (non-U.S.) entities from applying.
Were foreign components of U.S. organizations allowed?
No. The FOA did not allow foreign components of U.S. organizations, keeping the supported research infrastructure and performance largely within the United States.
What kinds of disease or trait areas were emphasized?
The FOA emphasized complex disorders and traits where family structure and prior evidence (such as linkage peaks or other genomic signals) suggest deeper molecular follow-up could be informative. It was issued under NIH institutes and programs that include heart, lung, blood, human genomics, and sleep-related research areas as reflected in the associated CFDA numbers.
What is the overall "takeaway" of what NIH wanted to fund here?
In practical terms, NIH wanted to modernize and fully exploit existing family-based genetic resources by layering next-generation molecular profiling onto legacy genotype-phenotype family datasets, using smart sampling and rigorous integrative analytics to discover genes and mechanisms underlying complex disease.
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