The UCSF Gould Syndrome Center, a service of the Pediatric Neurology Program, is the world's first center dedicated to supporting patients with Gould syndrome. This rare disorder, caused by a mutation in the COL4A1 or COL4A2 gene, was discovered by Dr. Douglas Gould in 2003 at UCSF.
Because patients with Gould syndrome may experience a variety of symptoms – including strokes, seizures and eye, kidney or muscle problems – our center includes a range of providers to meet their needs. Specialists in pediatric neurology, ophthalmology and genetics collaborate to make recommendations for each patient. When needed, we also coordinate care with additional experts, including those focused on epilepsy, nephrology, cardiology and neuromuscular disorders.
We are committed to working with 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 will progress. We also make follow-up plans to ensure our patients' symptoms are monitored over time.
In addition to delivering comprehensive care, our experts conduct research to improve scientific understanding of Gould syndrome, including how best to treat it. Patients who visit our center can participate in a natural research study, where anonymous data is collected over time with the goal of helping future patients.
We work primarily with patients age 25 and under who either have documented COL4A1 or COL4A2 mutations or have a parent or sibling with the mutations and symptoms of Gould syndrome. However, our clinic also welcomes patients over 25. Though we can't prescribe medication or order tests for patients who don't live in California, we offer consultations that can help guide decision-making with primary care providers.
To learn more about our services, please give us a call at (855) 722-8273 or email us at [email protected].
