SUPPORT FOR THE NEWBORN SCREENING PILOT STUDIES RELATED ACTIVITIES

NIH RePORTER · NIH · N01 · $2,500 · view on reporter.nih.gov ↗

Abstract

The goal of newborn screening is to detect potentially fatal or disabling conditions in newborns, thereby providing a window of opportunity for early treatment, often while the child is still asymptomatic. Such early detection and treatment can have a profound impact on the clinical severity of the condition in the affected child. If left undiagnosed and untreated, the consequences of the targeted disorders can be dire, many causing irreversible neurological damage, intellectual, developmental, and physical disabilities, and even death. In 2006, the American College of Medical Genetics (ACMG) developed newborn screening guidelines that recommend that all newborn infants be screened for 29 "core conditions" and that 26 secondary conditions identified during the core evaluations be reported. These recommendations have been accepted by the HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) (authorized by the Children's Health Act of 2000), and by the Secretary of HHS. Since acceptance of the core conditions, 5 additional ones have been added. Most states now use this or very similar panels for newborn screening. Currently, there are thousands of rare disorders that have been identified and hundreds that could potentially benefit from newborn screening.

Key facts

NIH application ID
10916148
Project number
75N94021D00017-P00002-759402100001-1
Recipient
EMORY UNIVERSITY
Principal Investigator
WILLIAM WILCOX
Activity code
N01
Funding institute
NIH
Fiscal year
2023
Award amount
$2,500
Award type
Project period
2022-09-28 → 2024-09-27