Spatial Transcriptomics to Identify Cellular Alterations in NEHI

Awardee: W. Adam Gower

Institution: University of North Carolina at Chapel Hill School of Medicine

Grant Amount: $41,000

Funding Period: February 1, 2022 - January 31, 2023


Summary:

The diagnosis and management of NEHI is complicated by a lack of understanding about the biologic processes at work in the lungs of affected children. Research so far has suggested that NEHI is unique from other forms of childhood interstitial lung disease, and likely involves abnormal function of neuroendocrine cells and other cell types in the smallest airways. We propose to utilize a new technology that will allow use to determine what genetic pathways and biological processes are unique to NEHI lung tissue, using excess lung biopsy material that has already been collected and banked. By understanding which genetic pathways and processes are unique to NEHI compared to children with other lung diseases and healthy controls, we may identify ways to improve diagnosis and perhaps targets for new and unique treatments. Our team has extensive expertise in NEHI and rare lung disease research, access to tissues samples for use, and colleagues who can assist in the analyses needed to complete this project during the award period.

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High Resolution Ventilation and Perfusion MRI Assessment of Neuroendocrine Cell Hyperplasia of Infancy (NEHI) in Infants and Young Children: Technical Feasibility and Direct Clinical Application

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Targeting mTOR signaling to improve neurologic outcomes in MSUD