Governor Rod R. Blagojevich of the State of Illinois recently signed into law a bill that mandates screening of all infants for five genetic diseases caused by the deficiency of five different cellular enzymes. Screening will be carried out using a new technology based on mass spectrometry that was developed at the University of Washington in research led by Professors Michael Gelb and Frantisek Turecek in the Department of Chemistry and Professor C. Ronald Scott in the Department of Pediatrics at the UW School of Medicine. The technology allows technicians to assay multiple enzymes simultaneously from a small drop of a dried blood spot placed on a screening card. As there is already treatment available for the five diseases (Fabry, Gaucher, Krabbe, Niemann-Pick, and Pompe) and early treatment yields better results, newborn screening will identify vulnerable infants and improve their outcome in fighting these diseases.
The work was funded by the National Institutes of Health and the Genzyme Corporation.
For more information about Frank Turecek, please visit his faculty page.