Professors Michael Gelb and František Tureček in the Department of Chemistry are being presented with the Gustavus John Esselen Award for Chemistry in the Public Interest for their work in developing a sensitive, specific, and inexpensive technique for detecting genetic diseases in newborns. Lysosomal storage diseases, a group of rare genetic diseases that affect about 1 in every 5000 persons, cause serious abnormalities in children, and often result in premature death. Using the fact that certain errors in metabolism can be detected by enzymatic assays, Professors Gelb and Tureček have developed a multiplex assay technique that uses tandem mass spectrometry to identify these diseases using blood samples that are already routinely collected. The new procedures are so reliable and inexpensive that several states are now mandating that every newborn be tested. The diseases include Gaucher, Krabbe, Pompe, Nieman-Pick, Fabry, and Hurler syndromes. Oftentimes they are evident in the first few years of life but sometimes not apparent until later. Early detection is important for the best chances of effective treatment.
The Gustavus John Esselen Award for Chemistry in the Public Interest honors outstanding scientific achievement in scientific and technical work which contributes to the public well-being and has thereby communicated positive values of the chemical profession. The award is presented annually by the Northeastern Section of the American Chemical Society and has honored such publicly renowned chemists as F. Sherwood Rowland and Mario J. Molina (effect of chlorofluorocarbons on the ozone layer), Carl Djerassi (birth control drugs), and Kary Mullis (polymerase chain reaction). The Esselen Award is given to honor the memory of G. J. Esselen, past chair of the Northeastern Section and founder of Esselen Research Corporation.
In recognition of their contributions, Professors Gelb and Tureček will receive the Gustavus John Esselen Award for Chemistry in the Public Interest on Thursday, April 4, 2013, in a ceremony at Harvard University’s Mallinckrodt Chemistry Laboratories at 8:00 pm. Free and open to the public, the award lecture, to follow the presentation, is entitled “The Chemistry of Next Generation Newborn Screening.” Further information concerning the award can be found on the ACS Northeastern Section website.
To learn more about Professor Gelb, the Harry and Catherine Jaynne Boand Endowed Professor of Chemistry, and his research, please visit his faculty web page or his research group website.
To learn more about Professor Tureček and his research, please visit his faculty web page.
Four faculty members from the Department of Chemistry were among the 701 newly elected Fellows of the American Association for the Advancement of Science (AAAS). Election as a Fellow of the AAAS is an honor bestowed upon members of the organization by their peers. The newly elected AAAS Fellows will be recognized for their contributions to science and technology at the Fellows Forum on February 16, 2013 during the AAAS Annual Meeting in Boston, Massachusetts.
Eleven University of Washington researchers were among the 701 AAAS Fellows elected in 2012, including the following four from the Department of Chemistry:
David S. Ginger, Professor and Raymon E. and Rosellen M. Lawton Distinguished Scholar in Chemistry
D. Michael Heinekey, Professor of Chemistry
Sarah L. Keller, Professor of Chemistry and Associate Dean for Research Activities
František Tureček, Professor of Chemistry
For additional coverage of the UW researchers receiving this honor, please see the UW News article.
Professor František Tureček was awarded the 2012 Thomson Medal Award by the International Mass Spectrometry Foundation. The Thomson Medal Award was established as an acknowledgement of exemplary contributions through outstanding research and distinguished service in mass spectrometry, and is only awarded every three years. Professor Tureček joined two other recipients for the medal presentation ceremony at the 19th International Mass Spectrometry Conference held last month in Kyoto, Japan.
The Thomson Medal is named after British physicist and Nobel Laureate Sir J. J. Thomson, who more than 100 years ago was responsible for creating the first mass spectrograph, a parabola instrument that used magnetic and electrostatic deflection and which foreshadowed many features of modern instruments. For more information about the International Mass Spectrometry Foundation, please visit the IMSF website.
Additional coverage on this award is available through the UW College of Arts & Sciences Perspectives newsletter.
To learn more about Professor Tureček and his research, please visit his faculty page.
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 Mike Gelb and his research, please visit his faculty page or his research group website.
For more information about Frank Turecek, please visit his faculty page.
Rare metabolic diseases such as Tay-Sachs, Fabry and Gaucher syndromes are caused by enzyme deficiencies and typically have crippling, even fatal, consequences starting at very early ages. Now a team of University of Washington scientists has developed a relatively simple screening process to detect enzyme deficiencies in newborns that will allow treatment to begin before too much damage has been done.
“All of the damage from these diseases is permanent, so if you can start treatment early, in a few weeks or months, you can begin to minimize the damage,” said Frantisek Turecek, a UW chemistry professor.
The technique uses a spot of blood drawn from a baby’s heel and dried on a paper card. A 2-millimeter section is punched out of the spot, then is rehydrated, the target enzymes are incubated and then measured using tandem mass spectrometry, a means of determining a substance’s chemical makeup and quantity. The sample can be screened for perhaps 15 enzyme deficiencies at the same time, and the entire process typically will take less than two days, Turecek said.
(from a Mar. 30, 2006 article in University Week online)
Additional material available on the Biochemistry website.