The Gould Syndrome Program is dedicated to the care of patients with Gould syndrome. This rare disorder, caused by a mutation in the COL4A1 or COL4A2 gene, was discovered in 2003 by Douglas Gould, PhD, who directs a research lab at UCSF. Gould syndrome can affect many parts of the body, including the brain, eyes, kidneys, muscles and digestive system, resulting in a wide variety of symptoms.
At the Gould Syndrome Program in San Francisco, your child's initial consultation includes an opportunity to meet with Dr. Rachel Vassar, a pediatric vascular neurologist and internationally recognized researcher. Following the consultation, you may receive referrals to additional specialists, including experts in pediatric epilepsy, ophthalmology, genetics, nephrology, cardiology and neuromuscular disorders.
We are committed to supporting patients and their families throughout their lives as they navigate the challenges of Gould syndrome. Our providers offer personalized advice on screening tests, such as brain imaging, that can help with predicting how the condition may progress.
Our experts also conduct research to enhance scientific understanding of Gould syndrome and develop effective treatments. Patients visiting our providers may choose to participate in a natural history study, which collects anonymous data over time to benefit future patients.
We work primarily with patients age 18 and under who either have documented COL4A1 or COL4A2 mutations or have a parent or sibling with the mutations and symptoms of Gould syndrome. While we can prescribe medications or order tests only for patients who reside in California, we offer consultations for out-of-state patients, which may help their families, primary care providers and local neurologists with managing symptoms related to Gould Syndrome.
For an initial consultation with Dr. Vassar, please call the Pediatric Brain Center at (855) 722-8273 and press 1 for the San Francisco location.
