This funding opportunity announcement (FOA) encourages applications that propose to develop studies that will lead to a broad understanding of the natural history of disorders that already do or could potentially benefit from early identification by newborn screening. A comprehensive understanding of the natural history of a disorder has been identified as a necessary element to facilitate appropriate interventions for infants identified by newborn screening. By defining the sequence and timing of the onset of symptoms and complications of a disorder, a valuable resource will be developed for the field. In addition, for some disorders, specific genotype-phenotype correlations may allow prediction of the clinical course, and for other disorders, identification of modifying genetic, epigenetic, or environmental factors will enhance an understanding of the clinical outcomes for an individual with such a condition. Comprehensive data on natural history will facilitate the field's ability to: 1) accurately diagnose the disorder; 2) understand the genetic and clinical heterogeneity and phenotypic expression of the disorder; 3) identify underlying mechanisms related to basic defects; 4) potentially prevent, manage, and treat symptoms and complications of the disorder; and 5) provide children and their families with needed support and predictive information about the disorder.
Deadlines:
PAR-21-115 Expiration Date: New Date January 08, 2025 (Original Date: January 08, 2024) per issuance of NOT-HD-24-001
Sponsor Institute/Organizations: National Institutes of Health
Address: National Institutes of Health; 31 Center Drive; MSC 2220; Bethesda; MD 20892-2220; USA
Oct 05, 2024
Varies
Affiliation: National Institutes of Health
Address: National Institutes of Health; 31 Center Drive; MSC 2220; Bethesda; MD 20892-2220; USA
Disclaimer:It is mandatory that all applicants carry workplace liability insurance, e.g., https://www.protrip-world-liability.com (Erasmus students use this package and typically costs around 5 € per month - please check) in addition to health insurance when you join any of the onsite Trialect partnered fellowships.