Over the past ~15 years, we have developed new bioanalytical assays based on tandem mass spectrometry for detection of genetic diseases in newborns that can be used for newborn screening, diagnosis, and prognosis.  The assays utilize synthetic organic chemistry to prepare specific reagents to detect enzymatic activities and biomarkers in dried blood spots on newborn screening cards or in blood leukocytes. Tandem mass spectrometry is used to detect enzymatic products and biomarkers in complex biological samples.  This provides highly accurate data that is easy and economical to obtain and in a highly multiplexed fashion such that many diseaes can be analyzed at once.  New methods to detect lysosomal storage and other diseases have been developed to support the recent desire to carry out newborn screening for a subset of these diseases that are treatable.  This work has led to the addition of these diseases to the recommended uniform screening panel in the USA, and several states and countries are live for newborn screening of lysosomal storage diseases or are gearing up to go live.

The chemistry of newborn screening, diagnosis, and prognosis of genetic diseases

256th National Meeting (2018)

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