If you and your family member with MED13L 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
The MED13L Foundation has become aware of another study, and we encourage all MED13L 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 MED13L.
Host: The MED13L Foundation 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 The MED13L Foundation does to achieve our goal of a better future for our loved ones afflicted with MED13L. Dr. Willsey has performed research in cells and animal models that have significant implications for MED13L. 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 family member with MED13L and would like to participate in the nNO study. MED13L patients are encouraged to cc Dr. Rachel Heilmann 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.
Here are their emails: helen.willsey@ucsf.edu & rheilmann@med13l.org
