Very easy, non-invasive, IRB-approved study open to all SYNGAP1 patients available at UCSF 😤

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If you and your Syngapian are or plan to be anywhere near San Francisco, email Dr. Willsey and sign up for the study. You get to see the lab, meet a researcher, and all you have to do is consent and breathe into a tube for a minute.  The data generated will support research with significant implications for our patients.

WHAT – NEW STUDY OPPORTUNITY

SRF has become aware of another study, and we encourage all SYNGAP1 families to participate. All you need is to show up and know the patient’s genetic mutations. We suggest bringing a copy or screenshot of the genetic report with you. The test is to breathe into a FeNO by NIOX machine for a minute. That’s it.

WHERE – THE WILLSEY LAB, UCSF

The study is being run out of the Willsey Lab at UCSF, located at 1651 4th Street in San Francisco in the Weill Neuroscience Building.

WHO – YOU & WILLSEY LAB

Participants: It is open to any patient with a genetic diagnosis related to Epilepsy and/or Autism and their family members. We encourage any family who can get themselves to the Willsey Lab in San Francisco to participate, especially those with SYNGAP1. 

Host: SRF knows Dr. Helen Willsey, and we are impressed with her genuine passion and commitment to translational science, which is research that will help patients. We cannot endorse this study strongly enough. To learn more about Dr. Willsey, please see this article about her from our partners at Simons: For more information on the Willsey Lab, visit their site. 

WHY – TO MOVE FORWARD AS FAST AS POSSIBLE

Collaboration between patients and scientists is at the very core of what SRF does to achieve our goal of a better future for our loved ones afflicted with SYNGAP1.  Dr. Willsey has performed research in cells and animal models that have significant implications for SYNGAP1.  This very easy, non-invasive, IRB-approved, short (minutes) study would help inform her work and could validate some of her findings.

WHEN – ASAP

The IRB approval began on August 16th and lasts for one year, but we want to get as many patients as possible to Dr. Willsey as soon as possible to inform her work.  If you can get to the Lab, please do.

HOW – SEND AN EMAIL (OR TWO)

To participate, please email Dr. Willsey and express your interest. Do not include any patient information in your email – just say you have a Syngapian and would like to participate in the nNO study. SYNGAP1 patients are encouraged to cc Mike so he will stop asking if you’ve done it yet.

Once scheduled you will go to the Lab, fill out a consent and the patient and willing family members will breathe into a tube.  If the patient is over 18, there is another form.  This can all be discussed with Dr. Willsey via email in advance. 

If cost is an issue for the travel, parking, and related expenses, SRF will reimburse costs against receipts for SYNGAP1 patients with pre-approval.  Just email Mike.

Here are their emails: helen.willsey@ucsf.edu & mike@cureSYNGAP1.org

PS – The official nNO emoji is henceforth 😤