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Scripps launches whole genome sequencing study to find root causes of idiopathic diseases
Date:10/17/2011

LA JOLLA, Calif. -- Scripps Health announced today it has launched an innovative clinical research study that is using whole genome sequencing to help determine the causes of idiopathic human diseases -- those serious, rare and perplexing health conditions that defy a diagnosis or are unresponsive to standard treatments.

The use of whole genome sequencing is a novel approach to accurately diagnosing and treating rare medical cases. Whole genome sequencing provides information on all 6 billion data points in the human genome. This is more than 3,000 times more data than the current standard in sequencing technology DNA arrays which offers genotypic information on up to 1 million base pairs.

"We're now at a turning point in medicine, where we can look at a person's entire genetic code and examine their biologic underpinnings in a way that was never possible before," said Dr. Eric J. Topol, chief academic officer of Scripps Health and the study's principal investigator. "For patients who have searched in vain for the cause of their unexplained illnesses, whole genome sequencing could provide important and potentially life-saving answers."

The use of genome sequencing took a major leap forward last year, when doctors and scientists at the Medical College of Wisconsin and Children's Hospital of Wisconsin announced the first successful use of the technique to diagnose and treat a patient. Four-year-old Nic Volker had an undiagnosed intestinal illness that doctors considered terminal. Genome sequencing revealed a single mutation responsible for Nic's disease, leading to the umbilical blood transplant that saved his life.

To date, only a select few institutions across America are using whole genome sequencing for purposes such as diagnosing patients, predicting disease risk and understanding health. The technology is gradually becoming more accessible
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Contact: Steve Carpowich
carpowich.stephen@scrippshealth.org
858-678-7183
Scripps Health
Source:Eurekalert

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