Stanford Medicine taking lead on new national genome project

Doctors at Stanford Hospital to tackle mysterious diseases using genomes.
Stanford Medicine is taking a major step to bring the power of unlocking the human genome to patient care. It has launched a service that will scour patients' DNA to help mysterious and complex conditions.

He may not smoke a pipe or wear a wool hat, but Euan Ashley, MBChB is about to become the Sherlock Holmes of medicine. He and his colleagues at Stanford Hospital are being tapped to investigate diseases so mysterious, doctors haven't been able to diagnose them. Some are cases that have baffled the experts for years. They do it using a combination of high-tech and old-fashioned brain power.

"These are often patients and families who've spent sometimes years traveling to every physician they can find to try to find an answer to their problem," said Ashley.

It's a role the Stanford team is uniquely qualified for. Earlier this year, ABC7 profiled the hospital's new genomics clinic, which Ashley helped establish. It's a nerve center where investigators examine patients' DNA trying to pinpoint a genetic cause for their disease. It is also taking advantage of advances that have made genome testing much more affordable - in some instances less than a $1,000 per case.

Patient Julie Prilinger was hoping to learn if her heart condition might be passed on to her young daughter. "It would also provide peace of mind potentially, for my husband and myself, if we could say definitively that she doesn't carry the gene."

But now, the Stanford team is taking their analytical power a step further becoming part of a newly created network set up by the National Institutes of Health. Its mission is to analyze and unravel undiagnosed diseases. The Undiagnosed Disease Network will be made up of six centers, including Stanford. It's an expansion of a program launched at the NIH Clinical Center in Bethesda, which has examined hundreds of patients from countries around the world.

The Stanford center will employ genetic testing and more. Ashley said, "For example, our immune monitoring core is very strong and we have great expertise in infectious disease because infectious disease is often on of the underlying causes of these syndromes."

Once it's fully up and running, Ashley believes the network will have the power to finally bring answers to anxious patients. "The idea is to bring everything we have, everything modern medicine has, to these very difficult cases to these families who have suffered, in many cases, for years."

Written and produced by Tim Didion
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