UCSF Opens World’s First Center of Excellence for Gould Syndrome

A surge in genetic testing shows more people have the mutation for Gould Syndrome than previously known but physicians have few answers. Regional centers could both treat and study the condition.
Hannah with her family

Hannah’s birth went off without a hitch, and she seemed like a typical newborn. But at two months old, Hannah’s mother Mary Detlefsen noticed her daughter’s eyes didn’t want to fully open and one seemed cloudy – so she took her to the family doctor. Thus began an arduous journey of specialist visits, imaging appointments, and genetic tests. Many months later, the family received a diagnosis: Gould Syndrome, a rare disorder caused by mutations in the COL4A1 or COL4A2 genes. Named after the UC San Francisco geneticist who discovered the mutation in mice in 2003, Douglas Gould, PhD, the syndrome’s most common symptoms are stroke and eye defects, followed by kidney and muscle abnormalities. Now, Gould is joining 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. The goal is to spare families like Hannah’s a painful path to diagnosis and specialist care.

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