Michael Gelb, Professor of Chemistry and Adjunct Professor of Biochemistry, together with Professors Frank Turecek of Chemistry and C. Ron Scott of Medicine, have developed a panel of tandem mass spectrometry assays for early detection of six different lysosomal storage disorders. These diseases are caused by deficiencies in lysosomal enzymes that are involved in the breakdown of specific cellular components.

The Gelb group developed a tandem mass spectrometry assay for newborn screening of Krabbe, Gaucher, Fabry, Pompe, Niemann-Pick, and Hurler diseases. Newborn screening for these diseases using the new technology is expected to begin over the next few years. The advantage of the new technology is that several enzyme deficiency diseases can be diagnosed in a single, multiplex analysis in which tandem mass spectrometry is used to simultaneously quantify a number of different enzymes.

Tandem mass spectrometry is already being used on dried blood spots from newborns to screen for about 25 different inborn errors of metabolism, such as amino acidurias and fatty acid breakdown diseases. These diseases can be treated and the effects minimized if treatment begins soon after birth. Over the past decade, treatment for a number of lysosomal storage disorders has become available.

(Slightly modified from UW School of Medicine Online News, November 4, 2005)

Other Breaking News

	Tom Schmidlin is disguised by day as a mild-mannered graduate student working with Assistant Professor of Biochemistry, Brian Kennedy, on the yeast Saccharomyces cerevisiae as a model for human aging, but Schmidlin also has a secret life: He was chosen as “Beerdrinker of the Year”.
	Using a mouse model, Thomas Hnasko of the Graduate Program in Neurobiology and Behavior and Professor Richard Palmiter have investigated the role of dopamine in the behavioural responses to drugs of abuse. As first author, Hnasko was interviewed by Nature.
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	Specific lipid-protein interactions can be visualized in the structure of two-dimensional Aquaporin-0 crystals as determined by cryoelectron microscopy ("cryo em") at the remarkable resolution of 1.9 Angstroms. Tamir Gonen, now an Assistant Professor of Biochemistry, recently completed this work as a postdoctoral fellow with Professors Thomas Walz and Stephen Harrison at Harvard Medical School.
	The L2L suite combines a simple analytical tool and comprehensive database for discovering the hidden significance in microarray expression data (the tool and database are available online at http://depts.washington.edu/l2l/). L2L was developedby graduate student John Newman and Alan Weiner, Professor of Biochemistry,to take the bias out of gene expression microarray studies.
	Nature features work by Biochemistry graduate student Steve Hatfield and Professor Hannele Ruohola-Baker on role of microRNAs in Drosophila stem cell
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