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- Research into the genetic underpinnings of mental retardation has been expidited thanks in part to technology from a local biotechnology company.
Researchers at the University of Washington
and the Howard Hughes Medical Institute
discovered new genetic causes of mental retardation, documented in a study published online in Nature Genetics
One form of retardation, caused by a large deletion that spans six genes on chromosome 17, has characteristic facial, behavioral, and other physical features that can aid clinicians in identifying similar syndromes.
Working with colleagues in the U.K. and U.S., the researchers screened 290 children with mental retardation and identified several abnormal genetic events. The researchers were able to pinpoint the region of the specific deletion using high resolution CGH microarrays.
In a news release, Dr. Andrew Sharp, senior fellow of the University of Washington and fist author on the paper, praised the responsiveness of NimbleGen Systems
in producing the specific arrays. The company's ability to "rapidly generate custom-designed, high density oligo arrays targeted to the specific chromosomal regions we were interested in provide us the key data in our study," he said.
"Having these tools in hand gave us, in a single experiment, what would otherwise have taken months of work using conventional methods, and allowed unprecedented insight into the underlying biology and mechanism of genomic disease," Sharp added.Genetic inversion
Although the deletion on chromosome 17 potentially accounts for only about one percent of cases of mental retardation, it is one of the most common genetic causes of the condition. The deletion is associated with a region of DNA that is commonly inverted in one in five people of European descent and seems to occur preferentially among children of individuals who carry the inversion.
The research was based on the hypothesis that the genome contains "hotspots" that are prone to instability and flanked on each side by large, repetitive regions of DNA, termed "segmental duplications." It is because of the repetitive nature of these regions that, during replication, the genome can become "confused" and duplicate, reverse, or delete itself within these regions.
NimbleGen's maskless array synthesis
technology is the result of research collaborations between the departments of biotechnology, genetics, physics, and semiconductor engineering at the University of Wisconsin-Madison
. NimbleGen has the exclusive worldwide license to this technology from the Wisconsin Alumni Research Foundation
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