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Large-scale genomics project will hunt genes behind common childhood diseases

al years, and served as director of Respiratory, Inflammatory and Pharmacogenomics Research, vice president of Clinical Sciences, and later as vice president of Business Development.

"Our goals for the Center are to generate new diagnostic tests for childhood diseases, to use this diagnostic knowledge to guide physicians to the most appropriate therapies. In addition, we plan to form strategic partnerships with biopharmaceutical companies to develop novel therapeutics," said Dr. Hakonarson.

Tailoring treatments to a patient's genetic profile represents an era of personalized medicine still in its early stages. Part of the research task ahead, said Dr. Hakonarson, is not only to map gene variants to disease risk, but also to investigate how genes interact with environmental factors.

"We will be tracing the major underlying genetic component of disease-related genes while discovering the biological pathways involved in disease development," Dr. Hakonarson added. "For instance, a specific cholesterol receptor may be dysregulated because of genetics, or the pathway may also be dysregulated because of an unhealthy diet. If we can identify key bottlenecks for dysregulation, we may be able to treat not only the five percent of people with a particular gene variant for a disease, but also the larger percentage who suffer the disease without having that variant."

To accomplish the large-scale genotyping analysis, the Center for Applied Genomics at Children's Hospital will use the BeadLab, a highly automated laboratory that will be able to process 264 patient samples per day and simultaneously analyze over 550,000 genetic variants for each sample. Developed by San Diego-based Illumina, the genotyping BeadLab will be installed and fully operational at Children's Hospital by the end of June.

"Once the BeadLab is installed here, we will have one of the largest genotyping projects in the world," said Dr. Hakonarson. "The equipment will b
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Source:Children's Hospital of Philadelphia


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