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NIH
Posted

PAR-25-227

Natural History of Disorders Screenable in the Newborn Period (R01 Clinical Trial Optional)

Summary

AI-generated

PAR-25-227: Natural History of Disorders Screenable in the Newborn Period

Research Focus

This program funds research to characterize the natural history of disorders that are or may become part of statewide newborn screening (NBS) programs. The funder seeks longitudinal studies documenting the sequence, timing, and progression of symptoms in infants and children identified through screening, with emphasis on genotype-phenotype correlations, genetic and clinical heterogeneity, and modifying genetic, epigenetic, or environmental factors. Research should generate comprehensive data to identify underlying biological mechanisms, improve diagnostic accuracy, establish baselines for intervention trials, and support development of targeted, age-appropriate treatments. Priority conditions include inborn errors of metabolism, lysosomal storage disorders, hemoglobinopathies, congenital immunodeficiency syndromes, mitochondrial disorders, neuromuscular disorders (spinal muscular atrophy, muscular dystrophies), and genetic/epigenetic syndromes (Fragile X and others). Studies may also establish patient registries or longitudinal data collection systems to track child and family outcomes following newborn screening.

At a Glance

  • Who can apply: Not stated
  • Funding & project length: Not stated
  • Award mechanism: R01 Research Project Grant (clinical trial optional)
  • Key dates: Applications due February 5, 2025 (earliest); subsequent rounds June 5, 2025 and October 5, 2025; expiration January 8, 2028
  • Best fit for: Pediatric researchers, geneticists, and metabolic disease specialists conducting prospective cohort studies or registry development in newborn screening populations

Key Facts

Deadline

Fri, January 7, 2028

Posted

Wed, November 6, 2024

Keywords

newborn screening
natural history studies
inborn errors of metabolism
lysosomal storage disorders
hemoglobinopathies
congenital immunodeficiency syndromes
mitochondrial disorders
neuromuscular disorders
spinal muscular atrophy
muscular dystrophies
genotype-phenotype correlations
longitudinal data collection
patient registries
epigenetic factors
disease progression
clinical heterogeneity
phenotypic expression
genetic modifiers
symptom development timing
clinical trial facilitation

Research Areas

MeSH
DiseasesC
InfectionsC01NeoplasmsC04Digestive System DiseasesC06Nervous System DiseasesC10Hemic & Lymphatic DiseasesC15Congenital & Hereditary DiseasesC16Nutritional & Metabolic DiseasesC18Endocrine System DiseasesC19Immune System DiseasesC20Pathological Conditions & SymptomsC23
Analytical/Diagnostic/Therapeutic TechniquesE
DiagnosisE01TherapeuticsE02Investigative TechniquesE05
Phenomena & ProcessesG
MetabolismG03Genetic PhenomenaG05Microbiological PhenomenaG06
Disciplines & OccupationsH
Health OccupationsH02
Anthropology/Education/SociologyI
EducationI02
Information ScienceL
Information ScienceL01
Health CareN
Health Care ServicesN02Health Care Quality & EvaluationN05
ANZSRC FoR
Biological Sciences31
Biochemistry & Cell Biology3101Genetics3105Microbiology3107
Biomedical & Clinical Sciences32
Clinical Sciences3202Immunology3204Medical Biochemistry & Metabolomics3205Medical Biotechnology3206Medical Microbiology3207Neurosciences3209Paediatrics3213
Health Sciences42
Epidemiology4202Health Services & Systems4203Public Health4206
Mathematical Sciences49
Statistics4905

Gotchas (3)

Soft Block
discoverymeta ambiguity

The FOA states 'Number of Applications: See Section III. 3. Additional Information on Eligibility' but the provided text does not include Section III.3, making it impossible to determine if there are

AI

90%

Source Text

Number of Applications: See Section III. 3. Additional Information on Eligibility.

Warning
discoverymeta ambiguity

This PAR was updated March 31, 2025 to align with agency priorities, but the document does not specify what changed from the prior version (PAR-21-115). Applicants may unknowingly submit applications

AI

75%

Source Text

This funding opportunity was updated to align with agency priorities. Carefully reread the full funding opportunity and make any needed adjustments to your application prior to submission.

Warning
discoverymeta ambiguity

The FOA references Notice NOT-OD-24-084 regarding 'Overview of Grant Application and Review Changes for Due Dates on or after January 25, 2025' but does not summarize what those changes are. Applicant

AI

75%

Source Text

April 4, 2024 - Overview of Grant Application and Review Changes for Due Dates on or after January 25, 2025. See Notice NOT-OD-24-084.

AI-generated content — verify with the issuing agency’s official FOA/NOFO. Not endorsed by HHS.

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