Getting to Know Dr. Vassar

Hi Dr. Vassar! Could you please introduce yourself and tell us about your role at the UCSF Gould Syndrome Center in California?

Hi! It is an honor to be interviewed by the Gould Syndrome Foundation. I am a pediatric neurologist at UCSF with specific training in adult and pediatric vascular neurology. I officially started the Gould Syndrome Center at UCSF in spring 2024 in collaboration with several researchers and clinicians at UCSF, including Dr. Doug Gould. My role is to provide clinical consultation to individuals and families affected by Gould Syndrome to help optimize their medical care based on the current knowledge of this complex condition. When indicated, I also arrange for consultation with other COL4A1/2 specialists at UCSF including Dr. de Alba Campomanes in pediatric ophthalmology.

When and how did you become interested in Gould Syndrome?

During my pediatric neurology training I cared for several young patients with Gould Syndrome and became motivated to learn more about this condition, particularly as it is an increasingly recognized cause of perinatal and childhood stroke. As families asked what the future looked like for their affected children, I was frustrated by our lack of answers and eager to better characterize the condition over the lifespan and help develop disease-specific treatments.

Image provided by UCSF Benioff Children’s Hospital

What are the primary goals of the Gould Syndrome Center?

I view the Gould Syndrome Center as an opportunity for a two-way exchange of information. I recognize that access to specialized medical care, particularly for rare conditions, is quite challenging, and I hope to share our current management recommendations for Gould Syndrome with families from all over the country. I also know that families and patients with Gould Syndrome have much to teach me and my colleagues, and as we work towards future therapeutics, we want the patients to be at the center of our research. Each patient encounter informs and advances our work on this condition, and I enjoy the opportunity to learn from my patients every day. We also offer enrollment in our COL4A1/2 natural history registry which follows individuals with COL4A1/2 variants over time to better understanding the spectrum of symptoms and disease evolution over time.

How have you seen the Gould Syndrome Center make an impact in patients’ lives? 

I have seen numerous ways that our clinic has helped families navigate the complex journey that often accompanies Gould Syndrome. For individuals who do not yet have a genetic diagnosis, I have experienced the tears of joy that can come with receiving an official answer after a diagnostic odyssey. Often my patients have seen numerous specialists who have never heard of this condition, and I always hope to be a comforting shoulder for families, as well as help empower them with tools to bring back to their local providers. Though a diagnosis of Gould Syndrome can be associated with much uncertainty, I aim to provide clarity to families based on the current understanding of the condition.

What would you like people to know about the Center that maybe they are not familiar with?

We aim to see as many individuals with COL4A1/2 variants as possible, though we focus on individuals under age 25. Out-of-state referrals are evaluated on a case-by-case basis, as we are unfortunately limited by a few factors including telehealth laws and insurance. We are working to expand access to Gould Syndrome-specific care across the United States by identifying providers who have expertise and interest in the condition at a variety of medical centers.

What are the best next steps someone should take if they would like to pursue an appointment at the Center?

 You can learn more about referrals to the Gould Syndrome Center at https://www.ucsfbenioffchildrens.org/programs/gould-syndrome-center. To begin the process, your child’s primary care provider or local neurologist can place a referral to UCSF Pediatric Neurology.

Does the Center interact with The Gould Lab and if so, what does that look like?

Yes, the Gould Syndrome Center is closely linked with the Gould Lab. Our clinical experiences inform the ongoing research in the Gould Lab, and observations in the lab influence clinical care. Our COL4A1/2 Natural History Registry, a joint project of the Center and the Gould Lab, includes the option of providing a blood sample to add to the biobank of tissue at the Gould Lab as they work towards developing COL4A1/2-specific treatments.

What advice would you give to a patient who is newly diagnosed? 

Each individual with Gould Syndrome is incredible and unique and has many strengths. It can feel scary or lonely navigating a new diagnosis, particularly when it is a rare disease. I encourage families to build a strong army of loyal supporters, including physicians that you trust, family and friends who can provide moral support, and new friends from around the world through organizations like the Gould Syndrome Foundation. I also encourage families to learn from each other by also try not to compare, as Gould Syndrome affects each person so differently. Lastly, hold on to hope, as we will only learn more in the coming years that will help improve care for individuals with Gould Syndrome.

When you are not at work, how do you like to spend your time? 

I love exploring the beautiful outdoors in the San Francisco Bay Area, whether I am biking, hiking, or swimming.

If you were not in your current role, what do you think you would be doing?

I have wanted to be a pediatric neurologist since I was a child, so I have trouble picturing a career doing anything else. Working at a vineyard in France would a potential second option.

What is something you are loving at the moment? Could be a podcast, a product, a book, any new thing!

My husband and I have been enjoying the board game Arcs lately.

Feel free to add anything here!

If you are interested in participating in the COL4A1/2 Natural History Registry, please contact our research team at col4a12@ucsf.edu. Participation in the observational component of the study does not require travel to UCSF.

I am hopeful to meet many of you, either through a formal clinical visit at the Gould Syndrome Center or at a future Gould Syndrome gathering of patients, families, providers, and researchers in the next several years.