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Family Contact Registry

Join a community dedicated to advancing science, discovering treatments, and working towards a cure for PACS1 Syndrome.

This contact registry is specifically for families whose child’s genetic testing has confirmed the R203W variant of PACS1 Syndrome. The PACS1 Syndrome Research Foundation is dedicated to studying this particular mutation, as it is currently the only variant confirmed to be pathogenic by the PACS1 Foundation.

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To confirm if your child has the specific PACS1 mutation, please refer to your genetic test report. Look for the mutation noted as 'c.607C > T' in the PACS1 gene, which results in the 'p.Arg203Trp' amino acid change.

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If your child has been diagnosed with PACS1 Syndrome through genetic testing and has this confirmed mutation, we invite you to complete the form below to get updates from the PACS1 Syndrome Research Foundation and learn about:

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  • Opportunities to participate in clinical research and studies.

  • The latest updates from our Foundation's Research Program.

  • Ways to advocate for PACS1 Syndrome awareness and support.

  • Opportunities to volunteer and contribute to our fundraising efforts.

Family Contact Registry

The PACS1 Syndrome Research Foundation may share your personal information according to the terms and conditions of our Privacy Policy. Consistent with our Privacy Policy, aggregated, non-identifiable data may be used to gather insight into our PACS1 Syndrome community. As an example, we may review aggregate data on regional concentrations, gender distribution, and age at diagnosis to help in the design of new research studies.

Relationship to individual diagnosed with PACS1 Syndrome:

Please tell us about the individual in your life who has been diagnosed with PACS1 Syndrome:

Gender:

If you answer "yes" to any of the questions below, a Foundation team member will contact you by email.

I'd like to learn more about how I can support the PACS1 Syndrome Research Foundation and the PACS1 community.
I would like to join the PACS1 Syndrome Research Foundation’s Private Facebook Group for Research Discussion (family members only).

Opt-In Consent

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The PACS1 Syndrome Research Foundation may share your personal information according to the terms and conditions of our Privacy Policy [which is viewable here.]By checking the box below, you acknowledge and agree to the terms and conditions stated in our Privacy Policy. You give your express consent for the collection, use, and disclosure of your personal information as described in the Privacy Policy. You understand that at any time you have the right to withdraw your consent for the Foundation to use and disclose your information prospectively, subject to the terms of the Privacy Policy, by contacting us at info@pacs1foundation.org. Please note that, should you withdraw your consent, the Foundation has a right to retain any personal information that you previously shared with us, and data already disclosed or transferred to third parties will not be recalled.  Your withdrawal of consent will not affect any personal information that you shared with the Foundation or that the Foundation disclosed before you withdrew your consent.

Thank you for completing our contact registry!
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