NIH – Innovative Screening Approaches and Therapies for Screenable Disorders in Newborns (R01 – Clinical Trial Optional)

November 19, 2021 by


This funding opportunity announcement (FOA) encourages research relevant to the development of innovative new screening approaches and therapeutic interventions for potentially fatal or disabling conditions that have been identified through newborn screening, as well as “high priority” genetic conditions where screening may be possible in the near future.

Having an accurate screening test, as well as demonstrating the benefits of early intervention or treatment, are important criteria for including a condition on a newborn screening panel. This FOA defines a “high priority” condition as one where screening is not currently recommended, but infants with the condition would significantly benefit from early identification and treatment.

The R01 activity code supports long-term projects, or projects designed to increase knowledge in a well-established area. Projects that are exploratory, novel, break new ground, extend previous discoveries toward new directions or applications, or generate pilot data in preparation for a larger study are well-suited for the companion R21 Exploratory/Developmental Research Grant FOA, PAR-21-355 . Projects that are discrete, well-defined projects that realistically can be completed in two years and require limited levels of funding are well-suited for the companion R03 Small Grant Program FOA, PAR-21-354 .


Screening newborns at birth for potentially fatal or disabling conditions provides a window of opportunity for early treatment, often while the child is still asymptomatic, which can have a profound impact on the severity of the condition in the affected child. If left undiagnosed and untreated, the consequences of many of these disorders can cause irreversible neurological damage; physical, intellectual, and developmental disabilities; or even death. Since newborn screening programs began in the 1960s, over 150 million infants have been screened for genetic and congenital disorders, which has prevented severe disease and disability. Newborns are now screened in all 50 states, though the panel of tests varies between states. To date, the Health and Human Services (HHS) Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) has approved a list of 35 core and 26 secondary disorders, called the Recommended Uniform Screening Panel (RUSP), that are recommended for states to screen as part of their state universal newborn screening programs.

Expanded knowledge of the genetic and molecular basis for various conditions, as well as technological innovation, can potentially increase the ability to screen for many disorders. Unfortunately, the pace of developing effective treatments lags behind the pace of developing new screening technologies, which unfortunately limits the benefits of screening for some disorders.

Established through the Newborn Screening Saves Lives Act of 2007, the Hunter Kelly Newborn Screening Research Program allows NICHD to fund an array of newborn screening research that focuses on identifying, developing, and testing new newborn screening technologies in order to improve existing tests and develop new tests, as well as developing and testing innovative interventions and treatments for conditions that could be detected through newborn screening but are not yet treatable. The Newborn Screening Saves Lives Reauthorization Act of 2014 (Public Law 113-240) authorized the HHS Secretary to expand the Hunter Kelly Newborn Screening Research Program to provide research and data on newborn conditions under review by the ACHDNC for addition to the RUSP and authorizes the NIH to conduct pilot studies on conditions recommended by the ACHDNC to ensure that screenings are ready for implementation by state health agencies.

Rules and regulations for newborn screening vary by state, and researchers may find it difficult to recruit a sufficient number of research participants for studies of rare disorders or conditions. To address these challenges, NICHD created the Newborn Screening Translational Research Network (NBSTRN,, which has created several tools to facilitate newborn screening research, including: the Longitudinal Pediatric Disease Resource (LPDR, access requires a free login); the Virtual Repository of States, Subjects, and Samples (NBS-VR); and a resource called ELSI Advantage, which provides information about the ethical, legal, and social issues (ELSI) associated with newborn screening research. The NBSTRN has also developed validated common data elements (CDEs), which are available to researchers through the NIH CDE Repository.

Key Dates:

Open Date (Earliest Submission Date): January 05, 2022
Letter of Intent Due Date(s); Not Applicable
First Applications Due Date: February 5, 2021

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Filed Under: Funding Opportunities