202301 Collaborative Rare Diseases Research for Long-Term Follow-Up of Newborn Screening C​​onditions

​​Program seeks Council approval for an initiative titled “Collaborative rare diseases research for long-term follow-up of newborn screening conditions.”  Newborn screening programs in the US screen over 4 million infants each year to identify those at risk for congenital disorders so that treatment can begin before symptoms present.  NICHD has a legislative mandate under the “Newborn Screening Saves Lives Act” to conduct research on newborn screening.  Because newborn screening sits at the intersection between technology development, therapeutic advances, and public health practice, research in this field is both rewarding and challenging.

For 15 years, the NICHD has supported the Newborn Screening Translational Research Network (NBSTRN), which was designed to serve as a “coordinating center” for newborn screening research, by facilitating data collection, access to residual dried blood spots from state screening programs, and new research collaborations. 

In preparation for the renewal of the NBSTRN, program staff undertook a comprehensive landscape analysis to assess research priorities and whether this resource needs updating to continue meeting the needs of newborn screening researchers.  This evaluation included a portfolio analysis of NICHD’s grant and contract investments in newborn screening research, a public Request for Information, and a “listening tour” of investigators engaged in newborn screening research.  Through this analysis, staff identified a crucial research gap in the lack of robust, long-term follow-up data on infants who screen positive to track their health outcomes over time.  Staff also identified a need for enhanced support for data science to promote the NIH’s goals of broad data sharing and secondary analyses.

As a result, the goal of this initiative is to strengthen NICHD’s support for gathering long-term follow-up data for newborn screening conditions and creating an interoperable platform for newborn screening data.  We propose to do this by integrating the NBSTRN into the NCATS-led Rare Diseases Clinical Research Network (RDCRN).  The RDCRN is an NIH-wide, well-established network of multisite consortia that advance the diagnosis, management, and treatment of rare diseases with a focus on clinical trial readiness and natural history studies.  The RDCRN features a Data Management and Coordinating Center (DMCC) that currently supports 20 consortia that each focus on at least three different rare conditions.  Each consortium proposes at least two clinical research projects, one of which must be a longitudinal study; additionally, consortia must meaningfully incorporate the perspectives of patients and advocates, as well as support career development.  The DMCC provides a clinical research data management system for each consortium that allows investigators to collect, store, manage, quality control, and share their data while providing robust data security protections and supporting interoperable cloud-based computing. 

This proposed concept aligns with NICHD Strategic Plan 2020 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)


Back to Concept Review by Council

top of pageBACK TO TOP