UCSF on the forefront of genetic research


Carmen Barron is hoping that her children will be the last generation to suffer from a debilitating heart defect.

"My children cannot do everyday activities as far as running, playing sports," she said.

Like more than a dozen members of this extended Texas family, the kids were born either with holes in their hearts, or malformed valves. So they agreed to participate in a first of its kind study that could someday cure the condition.

It's being run by Dr. Deepak Srivastava, of the Gladstone Institute at UCSF. He traveled to Texas to collect both skin and blood samples.

"So we had found the single gene that causes the defect years ago, but we didn't know why some people had valve problems, some didn't, why some people had more severe defects, and some less severe defects. We finally have the ability to answer those questions," he said.

To answer the riddle, Srivastava is combining two cutting edge techniques. He is first using the blood samples to sequence the genomes of 30 different family members -- allowing him to compare their genetic code to isolate the segments that turn the heart condition on or off.

"This has never been done before particularly at this scale because families like this are rare," he said.

The samples also contain skin, which will be used for another purpose. And back in his lab in San Francisco, the cells from those skin samples will provide a way to turn the information from the family's genome into a potential therapy.

Researchers turn the skin cells into stem cells using a technique pioneered by a researcher at Gladstone and from there into the living, beating heart cells.

"The idea is that if we can model the disease in a dish, in these cells then we could look for drugs that would change the abnormality. Then we could actually test that drug on all 30 family members' cells in a dish, rather than having to test in mice or in people themselves," Srivastava said.

And while 1,800 miles separates those beating heart cells from Barron's family, she's hoping the secrets they unlock could help them for generations to come.

"It's phenomenal, amazing the things they can do," she said.

Several years ago, researchers isolated a gene called GATA4, which causes the condition. They're now focused on identifying so-called helper genes which help control the behavior of GATA4.

Written and produced by Tim Didion

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