As Prescribed: UCSF is leading research on Gould Syndrome, a rare disease

SAN FRANCISCO (KCBS RADIO) – It was around 20 years ago when Doug Gould , a researcher at UCSF discovered what’s now called Gould Syndrome. Now UCSF is launching a first-of-its-kind center to treat patients with the condition.

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Dr. Rachel Vassar , a vascular neurologist at UCSF Benioff Children’s Hospitals who will be part of the center’s team, joined “As Prescribed” with KCBS Radio’s Alice Wertz for a segment airing on Feb. 29, Rare Disease Day.

“Of course, UCSF is a natural home for this first in the world center dedicated specifically to Gould syndrome because Doug Gould discovered the genome at UCSF and still is at UCSF,” she explained. “And I know that over the past decade or so, increasingly, he is contacted by people from all over the world who find that their local doctors don’t know anything about this condition.”

Patients with Gould Syndrome have mutations in the COL4A1 or COL4A2 genes that can cause stroke, as well as eye, kidney and muscle problems.

“About one in 10,000 fetuses have an in-utero stroke, and five in 10,000 newborns have a stroke. Of those perinatal strokes, one-fifth can be traced to a mutation in the COL4A1 or COL4A2 genes. The gene is inherited about 30% of the time,” according to UCSF.

Signs of the condition in newborns include abnormal eye movements as well as cataracts and glaucoma due to unusual formation of the eyeball. When doctors notice these signs, they often order testing that reveals Gould Syndrome mutations.

While the first signs may be apparent in the eyes of newborns, Gould Syndrome can impact the entire body.

“Essentially, because blood vessels are everywhere in our body, this abnormalities in the proteins in the blood vessels can result in problems in a variety of organs, but most notably in the brain, the eye, the kidney, sometimes in the heart and muscles,” said Vassar.

At the center, Vassar and the team hope to treat patients and learn more about the rare condition. She said that parents and patients are part of the process, too.

“I have a lot of hopes,” she said. “I really find it to be quite a rewarding experience…. I think that for a clinic like this, it's really a collaborative effort. And oftentimes these patients who have gone years without being able to find a clinician who knows about this condition, they have become the experts.”

Listen to this week’s “As Prescribed” to learn more. You can also listen to last week’s episode to learn about the benefits of telehealth abortion access here .

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