Award
NIH Reporter #5U54NS115052-07
Project 2: Improved Presymptomatic Diagnosis in Aicardi Goutières Syndrome
Recipient
Children's Hospital of Philadelphia
Award Amount
$222,788.00
Ceiling
$222,788.00
Awarded
September 03, 2026
Identifier
5U54NS115052-07
The award supports development of innovative newborn screening techniques for early diagnosis of Aicardi Goutières Syndrome to enable timely intervention and improve patient outcomes.
Description
This project aims to develop newborn screening methods for early diagnosis and intervention in Aicardi Goutières Syndrome (AGS) by detecting IFN-related proteins and genes in neonatal blood spots using immunoassays, nanoString RNA profiling, and genetic confirmation. The project focuses on establishing immunoassay approaches for IFN-related protein detection as a biomarker for AGS in newborns, evaluating IFN response gene patterns as a second-tier screening, and piloting a two-tiered IFN protein/gene expression assay in a retrospective cohort.