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Final Research Progress Report Sihoun Hahn, MD, PhD, Seattle Children’s Hospital Research Institute

CRF has supported Dr. Hahn’s important research since 2017, awarding $234,458 for his research on Newborn Screening.  The aim of the study was to develop and validate a specific and quantitative assay for newborn screening of cystinosis.

Objective/Rationale
Newborn screening (NBS) has proven to be highly effective at reducing healthcare costs, improving outcomes, and avoiding long-term disability in affected children. It is unfortunate that there are currently no cost-effective population screening methods available for early detection of Cystinosis while it can be effectively treated with an excellent outcome if diagnosed early.   This project is intended to develop a high-throughput and multiplexed assay using tandem mass spectrometry to quickly screen Cystinosis using dried blood spots for potential application of NBS.

Final Progress Report

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