Join Our Research
Register with Simons Searchlight and Join Our MEF2C Study at Boston Children’s Hospital
Join our research on Simons Searchlight. We need your participation to find treatments and a cure.
To take a treatment to clinical trials, it is essential that we first collect baseline health data from our patients in order to accurately measure how people are doing without an intervention. By registering for Simons Searchlight, you can ensure that your loved one with a pathogenic MEF2C variant is part of this effort.
In order to take advantage of new therapeutic developments we need your support to create a robust patient history database. By inputting this essential data into Simons Searchlight, you can help scientists and clinicians to take treatments to clinical trials, and ensure our community is elevated and prioritized by researchers.
How it works
Simons Searchlight is a research registry that works with families and researchers around the world to help speed up research on rare genetic neurodevelopmental disorders. By collecting detailed information and blood samples, Simons Searchlight takes a deep dive into these disorders. They share the information and blood samples - without disclosing the identity of patients - with leading geneticists and scientists around the world to improve the lives of people living with rare genetic neurodevelopmental disorders.
It’s absolutely free to register and submit your samples.
The process, step by step
Upload your reports.
When you sign up you will be asked to provide general details about you and your family and you will be asked to upload your genetic test results, if you have them. If you do not have the results, Simons Searchlight can help you obtain them, or with your permission obtain them on your behalf.
Submit surveys
Once the preliminary data is received and reviewed, the Simons Searchlight team will send a link(s) to complete surveys. These surveys, along with the genetic test results, will help clinicians to create a solid and robust natural history of our children that we can use in preparation for a clinical trial.
Free blood draw
You can submit your blood samples to Simons Searchlight at no cost to you. The team will give detailed instructions and you can complete the draw at your local testing lab.
If you would like to speak with the Simons Searchlight team directly they can be reached via email. You can also reach out to us and we will do our best to help you.
This is a very important step in the process to better understand, investigate, and develop treatment options for our children. It is our goal to assist in the creation of a robust natural history to make this a reality. We must achieve critical mass so the importance of our community is fully recognized by the scientific community.
Thank you all for your support!
The creation of a robust natural history and solid assessment standards
In order to take drugs / new therapies to clinical trial with our patients we will need to have ways to assess the effects of the drug / therapy on our patients during a clinical trial. This means that it is in our best interest to get our patients in for research assessments as soon as possible. We are working diligently to organize assessments of our patients. A great team has been assembled and they are already working on putting together solid assessment standards.
This is a very important step in getting any new drugs / therapies approved for clinical trial. Without the research provided by patient assessments we will not be able to plan and conduct effective clinical trials. This is a very important piece of the puzzle. We need your help to advocate to make this happen.
The MEF2C Focused Study at Boston Children’s Hospital
Join us for patient research assessments at Boston Children’s Hospital. To find out more about our landmark patient research assessments, the first round of which were conducted in October 2024, please email us at info@usmef2cfoundation, so we can provide you with the details on this study.