UCSF Opens First Center of Excellence for Gould Syndrome

Rare Daily Staff

The University of California, San Francisco opened the first center of excellence for Gould Syndrome, a rare genetic, multi-system disorder.

Gould syndrome is named for Douglas Gould, the UC San Francisco geneticist who discovered the genetic mutation in mice in 2003.

The syndrome is caused by mutations in the COL4A1 or COL4A2 genes. Its most common symptoms are stroke and eye defects, followed by kidney and muscle abnormalities.

Gould is working with UCSF clinical colleagues in pediatric neurology and pediatric ophthalmology to create the first center in the world focused on patients with COL4A1/2 mutations.

In addition to treating patients, the center also will conduct research, including a natural history study to learn the range of symptoms that can emerge from the COL4A1/2 mutation, as well as how those symptoms emerge over an individual’s lifetime.

Gould said that as the use of whole genome sequencing has expanded there is growing awareness of the syndrome.

“Now that the field of medicine has moved from sequencing just one gene to every gene in order to make a diagnosis, people are coming out of the woodwork,” said Gould in a UCSF interview. “Between 2005-10 there were maybe four or five reports of the COL4A1/2 mutation, then four a year between 2010-15 and now it’s something like 10 a month.”

Gould said he hopes that the UCSF center will be a model for regional centers around the country where physicians can both study and treat people with the condition.

“Individual doctors can’t spend the time it takes to research a disease they have never seen and may never see again, which means parents end up becoming the experts – all while caring for their child with special needs,” he said. “By having regional centers to refer to, each patient can see a team of specialists who are expert in this and get the best care possible.”

You can find the full USCF story here.