Newborn screening is a highly successful public health program that allows newborns with treatable genetic diseases to be diagnosed early in life so that treatments can be started prior to the development of life-threatening symptoms. Tandem mass spectrometry (MS/MS) provides the only analytical platform appropriate for quantification of enzymatic activities and biomarkers in dried blood spots on newborn screening cards. The oral presentation will include the following topics: 1) Multiplex MS/MS assays for newborn screening of several treatable lysosomal storage diseases; 2) Multiplex MS/MS assays for protein abundance (proteomics) for newborn screening of diseases for which there is no biomarker or protein functional assay possible; 3) The incorporation of these MS/MS newborn screening assays into newborn screening panels worldwide.

Newborn screening by highly multiplexable mass spectrometric assays of enzymatic activities and biomarkers

Fall 2022 abstracts, posters, and presentations will launch in mid-September.

ACS Fall 2022

The official archive and repository for all ACS Meetings & Expositions abstracts and select posters or presentations.