2/28 - Seminar (chem bio): Michael Gelb, University of Washington
Michael Gelb - speaker's webpage
Department of Chemistry
University of Washington
Newborn Screening of Lysosomal Storage Diseases: From Chemical Development to Implementation
Early detection of a set of enzyme deficiency diseases (lysosomal storage diseases) is required for effective treatment of these devastating disorders. We have developed the synthetic and analytical chemistry for newborn screening of lysosomal storage diseases. Specific enzyme substrates are prepared by multi-step organic synthesis, and enzyme activities are determined in a multiplex fashion by using tandem mass spectrometry. These methods are being adopted worldwide following the grass root-lead efforts from parents of affected children to add lysosomal storage diseases to the newborn screening panels in various states in the USA and countries. The seminar will present the logic of newborn screening, the development of the assays, and the implementation in newborn screening labs. The work shows how chemical research can make an enormous impact on the well being of the public sector.