Program seeks Council approval for an initiative titled “Innovative Therapies and Tools for Screenable Disorders in Newborns.”
State-run newborn screening programs screen over four million infants annually to identify those at risk for potentially fatal or disabling conditions, thereby providing a window of opportunity for early treatment, often while the child is still asymptomatic. Early detection and treatment can profoundly reduce the clinical severity of the condition; if left undiagnosed and untreated, the affected child may suffer irreversible damage, disability, or even death. Although expanded knowledge of the genetic and molecular basis of various conditions has increased our ability to screen for numerous disorders, the lagging pace of developing corresponding treatments limits the benefits of, and justification for, screening for these disorders.
There are 35 core and 26 secondary congenital disorders on the Recommended Uniform Screening Panel (RUSP). Adding new conditions to the RUSP requires an evidence-based review process by a federal advisory committee (the Advisory Committee on Heritable Disorders in Newborns and Children). When evaluating whether to add a new condition to the RUSP, a major consideration is whether an effective treatment exists for that condition. Thus, research on innovative new therapies and tools for treating conditions that would benefit from the early detection and treatment opportunities created by newborn screening is an essential step towards adding new conditions to the RUSP.
The goal of this initiative is to support the development of screening paradigms and beneficial treatments for infants that have been identified as having potentially fatal or disabling conditions through newborn screening, as well as for infants with “high priority” genetic conditions where screening may be possible in the near future. Prior cycles of this initiative have funded over 30 grants in 20 different rare diseases that are either part of current newborn screening panels or have the potential to be added to these panels in the future. More work is needed to develop novel screening strategies for treatable disorders, incorporating sensitive assays and multiplexed approaches, and to examine promising new therapeutic approaches, such as gene-targeted therapy, to bring novel therapies into clinical trials.
This proposed concept aligns with the NICHD mandate to carry out, coordinate, and expand research in newborn screening as part of the Hunter Kelly Newborn Screening Research Program, authorized by the Newborn Screening Saves Lives Act of 2008 (reauthorized in 2014). It aligns with NICHD Strategic Vision Research Themes 3 (Setting the Foundation for Healthy Pregnancies and Lifelong Wellness), 4 (Identifying Sensitive Time Periods to Optimize Health Interventions), and 5 (Advancing Safe and Effective Therapeutics and Devices for Pregnant and Lactating Women, Children, and People with Disabilities), as well as the cross-cutting topics of disease prevention, health disparities, and global health.
This proposed concept aligns with IDDB research priorities Improve Screening and Early Diagnosis for IDD Conditions to Develop Early Interventions and Treatments and Promote Translational and Implementation Research to Develop Safe and Effective Therapeutics and Devices for People with IDDs.
Program Contact
Mollie Minear
Intellectual & Developmental Disabilities Branch (IDDB)
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