The diseases are relatively rare, and typically the greatest risk lies with certain populations. Tay-Sachs, for instance, occurs most frequently in descendants of central and eastern European Jews, and about one in 30 American Jews carries the Tay-Sachs gene, an occurrence about 100 times greater than for other ethnic groups. Non-Jewish French-Canadians and Cajuns of Louisiana have a similarly elevated risk.
Some of the telltale symptoms can be very similar among all these diseases, making a medical diagnosis difficult, particularly early in life when the symptoms are not readily apparent. The new screening method will allow precise diagnosis very early, so newly developed pharmaceutical treatments can be administered in time to repair the break in the lysosome's biochemical chain and stop further damage.
After an initial investment in mass spectrometry equipment, the new screening should have a relatively low cost, perhaps 5 cents per analysis for chemicals and materials, Turecek said. He estimates one tandem mass spectrometer could process 85,000 screenings a year, equivalent to the state of Washington's annual birth rate.
The UW research team has been working toward a new screening method since 1998. It began using cultured skin cells but switched to blood samples three years ago. Other members of the research group are chemistry professor Michael Gelb, pediatrics professor C. Ronald Scott, chemistry graduate student Ding Wang and chemistry postdoctoral researcher Yijun Li. The work is supported by grants from the National Institutes of Health and Genzyme Corp. of Cambridge, Mass.
Turecek discusses the team's work March 28 at the American Chemical Society national meeting during a session honoring Richard Caprioli, a Vanderbilt University biochemist who is receiving the society's Field and Franklin Award for Outstanding Achievement in Mass Spectrometry.
Other diseases eventually can be added to those being screened fo
'"/>
Contact: Vince Stricherz
vinces@u.washington.edu
206-543-2580
University of Washington
28-Mar-2006