U.S. Researchers Find New Way to Gauge Rare Genetic
WEDNESDAY, Dec. 29 (HealthDay News) -- Federal researchers say
they've gained insight into how to analyze the risks facing people
with a rare immune system-weakening condition called chronic
granulomatous disease, paving the way toward more personalized
"Advances in treatment of CGD have made it possible for people with this once-fatal disease of early childhood to survive into adulthood; however, the disease remains difficult to manage," Dr. Anthony S. Fauci, director of the U.S. National Institute of Allergy and Infectious Diseases, said in a news release from the agency, which co-sponsored the research. "Having a marker to help predict disease prognosis will enable physicians to recommend treatment options that are more tailored to the needs of individual patients."
The inherited disease causes people to become especially
vulnerable to infections caused by certain germs and fungi, leading
to abscesses in various organs. An estimated 1,200 people in the
United States, and 25,000 people worldwide, have the condition.
The researchers tested immune cells from blood samples of 287
people with the condition. They found that they were able to group
people together based on the amount of superoxide made by immune
cells and then figure out which groups lived the longest or
"By precisely measuring superoxide production, we observed that even tiny residual amounts, at levels below what doctors paid attention to in the past, had a significant impact on patient survival," Dr. John Gallin, senior author of the report and director of the Clinical Center at the U.S. National Institutes of Health, said in the news release.
Researchers think the new findings will allow doctors to
determine which people need to be treated most aggressively,
possibly with bone marrow transplants.
The findings were published online Dec. 29 in the
New England Journal of Medicine.
The U.S. National Library of Medicine has more on
chronic granulomatous disease.
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