Impact of Continued Funding of the Sturge-Weber Project on Clinical Care

OCTOBER 10, 2014

Question: The Sturge-Weber Syndrome Project has been re-funded for another five years through the Brain Vascular Malformation Consortium. What does this mean for future progress in Sturge-Weber syndrome clinical care?

Response: The Sturge-Weber Syndrome Project has the following three goals:

  1. To better understand how blood vessel changes in the brain, skin and eye relate to the neurologic status of the patient. In these studies we will continue to develop the national de-identified database and a network of centers to care for patients with SWS and foster research. Tools for better monitoring the neurologic, dermatologic, and ophthalmologic aspects of SWS will be developed along with quality of life measure. These can be used in the future to predict outcomes or treatment responses.
  2. To determine how the vascular remodeling of the deep draining vessels in the brain relates to SWS neurologic status over time. We want to know whether the changes we often see over time in the brains of patients with SWS are there to help the brain stabilize the situation, or are worsening the patient’s status. The answer to this question has important treatment implications for the future. These studies are designed to address this question.
  3. Relate GNAQ mutation to changes in proteins and blood vessel factors in Sturge-Weber syndrome tissue. Now that the somatic mutation underlying Sturge-Weber syndrome has been discovered, we continue studies to understand how the mutation impacts the function of affected cells and tissues. We think that these studies will result in new ideas for targeted treatment strategies, which will eventually be brought to patients to improve their lives.

Question: If I come to a center doing this research, do I have to participate?

Response: No! You can always decide not to participate in research. If you do not want to be involved in research, you can still receive care at the Sturge-Weber syndrome centers. Research is always a choice, and consent must always be given before participating in this research.

Note: This update is provided for information purposes only. This is not a recruitment notice. For more information, please contact Dr. Anne Comi at 443-923-9569 or

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Tribute to Hunter Nelson

Hunter Nelson
In Memory of
Hunter Andrews Nelson
November 5, 1999 -
May 29, 2005

The dream for a cure lives on...


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