Natural History of Disorders Identifiable by Screening of Newborns (R01 Clinical Trial Optional) | PAR 18 090

Opportunity Information: Apply for PAR 18 090

The NIH funding opportunity titled "Natural History of Disorders Identifiable by Screening of Newborns (R01 Clinical Trial Optional)" (PAR-18-090) supports research projects aimed at building a clearer, more complete picture of how certain diseases unfold over time when they are identified at or near birth through newborn screening. The central idea is that many conditions found through screening are detected before symptoms appear, but clinicians and families often lack detailed, evidence-based information about what typically happens next: when symptoms begin, which complications tend to emerge, how fast or slowly the condition progresses, and how much variability exists from child to child. This FOA prioritizes studies that map the sequence and timing of disease onset and progression, because that kind of natural history knowledge is considered essential for planning appropriate medical follow-up and early interventions for infants flagged by screening.

A major emphasis is on developing comprehensive natural history datasets that can serve as shared resources for the field. The FOA highlights that understanding natural history is not just about describing clinical milestones; it is also about teasing apart why the same screened disorder can look very different across individuals. Applicants are encouraged to examine genotype-phenotype relationships where relevant, since certain genetic variants may predict severity, age of onset, organ involvement, or overall trajectory. For other disorders where straightforward genotype-phenotype prediction is not possible, the FOA points to the importance of identifying modifying influences such as additional genetic factors, epigenetic changes, or environmental exposures that may shape outcomes. In practical terms, this could involve longitudinal cohort studies, registry-based studies, prospective follow-up of screen-positive infants, or other well-structured approaches that capture both clinical outcomes and the biological or contextual factors that may explain differences in those outcomes. Clinical trials are listed as optional, meaning applicants may include clinical trial components if they are appropriate to the research goals, but the announcement is not limited to intervention studies.

The expected impact of funded work is framed around several concrete benefits to the healthcare system and to families. First, stronger natural history evidence can improve diagnostic accuracy, including differentiating true disease from benign or milder forms that might also be detected by screening. Second, it can clarify genetic and clinical heterogeneity and improve how the condition is classified and understood, particularly when a single screening result can correspond to a spectrum of phenotypes. Third, it can reveal mechanisms that connect the underlying biological defect to downstream clinical problems, which can guide future therapeutic development. Fourth, by documenting typical symptom patterns and complications, natural history studies can inform strategies to prevent, manage, or treat key manifestations earlier and more effectively. Fifth, the knowledge generated can be translated into clearer counseling and anticipatory guidance for families, giving parents more realistic expectations and helping clinicians provide supportive services at the right times.

This is an R01 grant mechanism under the NIH, categorized as a discretionary grant within health-related program areas (CFDA 93.847 and 93.865). The opportunity was created on 2017-11-01 and listed an original closing date of 2019-05-07. An award ceiling is not specified in the provided listing, and the number of expected awards is also not specified, which typically means applicants should rely on standard NIH R01 budget justification practices and the specific institute or center guidance that aligns with their scientific focus.

Eligibility is broad and includes many types of U.S. and non-U.S. organizations. Eligible applicants listed include state, county, and city or township governments; 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 and other tribal organizations; public housing authorities/Indian housing authorities; nonprofits with and without 501(c)(3) status; for-profit organizations (other than small businesses) as well as small businesses; and additional categories labeled as "others." The FOA also explicitly notes eligibility for 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 federal agencies, U.S. territories or possessions, regional organizations, and non-domestic (non-U.S.) entities. This breadth reflects the reality that newborn screening follow-up and rare disease expertise often span academic centers, public health programs, community-based networks, and international research collaborations.

Overall, the opportunity is designed to strengthen the evidence base that connects newborn screening results to real-world health outcomes across infancy and childhood (and potentially beyond), with the goal of making early identification more clinically actionable. By supporting rigorous, systematic natural history studies, NIH is aiming to reduce uncertainty after a positive screen, improve early care pathways, and create data resources that accelerate diagnosis, prognostication, and future treatment development for disorders detected through newborn screening.

• The National Institutes of Health in the food and nutrition, health, income security and social services sector is offering a public funding opportunity titled "Natural History of Disorders Identifiable by Screening of Newborns (R01 Clinical Trial Optional)" and is now available to receive applicants.
• Interested and eligible applicants and submit their applications by referencing the CFDA number(s): 93.847, 93.865.
• This funding opportunity was created on 2017-11-01.
• Applicants must submit their applications by 2019-05-07. (Agency may still review applications by suitable applicants for the remaining/unused allocated funding in 2026.)
• 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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