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.
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.