Simons Searchlight is an international research program that is creating an ever-growing database and resource network of rare genetic neurodevelopmental disorders including PPP3CA (learn more here). To expedite the path to a cure, we need to register as many children with the mutation as possible.
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We know that going through this isn’t easy and thankfully Simon Searchlight makes the registration process very easy. Should you run into any challenges, the support team at Simon Searchlight is happy to assist and even walk you through the process. Their support information is below.
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Helpful instructions for registration:
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Go to this website: https://www.simonssearchlight.org/
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Click on the blue button that says “Join Us.” You can register in English, Spanish, French or Dutch. Portuguese, German and Italian options are coming soon.
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After you create an account, you will get an email confirming the creation of your account. Once completed, you will be asked a series of questions, one of which says: “What is the genetic diagnosis leading you to join Simons Searchlight?” There will be a drop down menu where you can search. Please identify “PPP3CA” for your selection so you can be added to our group.
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Once registered, you will need to submit your child’s genetic testing report to review. Once reviewed by the Simons Searchlight team, there will be a number of questionnaires for you to fill out. You can also register another parent and siblings.
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The final step will be to have a blood sample collected. This will enable us to grow cells (iPSCs) to help find potential treatments for our children.