Development of a 18-plex UPLC-MS/MS Assay for Newborn Screening of Lysosomal Storage Disorders and Other Treatable Genetic Diseases
Xinying Hong, Michael Gelb University of Washington
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Xinying Hong (Presenter) University of Washington
Presenter Bio: I received a B.S. in Chemistry from Peking University and is now pursuing my PhD in Chemistry at the University of Washington under the supervision of Dr. Michael Gelb. My current research focuses on assay development for screening, diagnosis, and prognosis of treatable genetic disorders.
Relevant Financial Disclosures
(within past 24 months)
No relevant financial relationship(s) to disclose.
Abstract
Newborn screening is often considered for those genetic disorders in which an acceptable treatment has been established and early initiation of treatment leads to a better clinical outcome. Galactosemia is currently being screened in all states, mostly by assaying the enzyme activity of galactose-1-phosphate uridyltransferase (GALT). However, the current assay may give rise to false positives if the subject has glucose-6-phosphate dehydrogenase (G6PD) deficiency. Herein a new GALT assay that is not affected by G6PD is developed and is then consolidated with validated assays for lysosomal storage diseases (LSDs) and other genetic disorders. Using the optimized protocol, 18 genetic disorders can be screened simultaneously with a 2.7 min UPLC-MS/MS method.
= Discovery stage. (17.55%, 2019 US)
= Translation stage. (42.72%, 2019 US)
= Clinically available. (39.74%, 2019 US)
