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Birth Defects Genomics Laboratory

The Genomics Laboratory is located at the Arkansas Children's Hospital Research Institute and plays a key role in all major studies currently underway at the Arkansas Center for Birth Defects Research and Prevention. Work in the laboratory is aimed at identifying associations between the risk of congenital heart defects (CHD) and previously identified polymorphisms in genes that affect oxidative stress, as well as folate and homocysteine metabolism. Initially, available technology required assay of each genetic polymorphism individually in the DNA of study subjects. However, the etiology of CHD is complex, and it is likely that multiple genes in different pathways contribute to the development of these devastating effects. Therefore, we have acquired Illumina technology, which allows the identification of 1,500 genetic polymorphisms in the genomes of study subjects in a single assay. Further, to remain at the cutting edge of genomics technology, we have acquired the Infinium update for the Illumina Beadstation, giving the lab the capability of analyzing 50,000 and up to 1,000,000 different polymorphisms in the genome of each individual. This cutting edge technology will allow identification of other genetic variants in previously unrecognized pathways that may be critical for the development of CHDs.

The Arkansas Children's Hospital Research Institute and the Pamela D. Stephens Endowed Chair in Birth Defects provided funds to purchase the laboratory's Illumina Beadstation 500G Genotyping Station and a Dell Precision Workstation 670 Intel Xenon to enhance genotyping and analytical capabilities of the Hobbs Birth Defects Genomics Laboratory. This state-of-the-art facility and its talented faculty and staff comprise an invaluable asset, reinforcing the competitive position of the Center for Birth Defects Research and Prevention's continued acquisition of long-term research funding.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Arkansas Center for Birth Defects Research and Prevention
13 Children's Way, Mail Slot 512-40
Little Rock, Arkansas 72202
1-877-662-4567 toll free

 

 

 

 

 

 

 

 

 

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