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Family Contact Registry

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

Complete the form below to get updates from the PACS1 Syndrome Research Foundation!

•  Clinical research and study opportunities

•  Foundation Research Program updates

•  PACS1 Syndrome advocacy opportunities

•  Volunteer and fundraising opportunities 

Family Contact Registry

The PACS1 Syndrome Research Foundation will never sell or share your personal information. Aggregated, non-identifiable data may be used to gather insight about 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:

Race (select all that apply):
Has a diagnosis been confirmed via genetic testing?:

Did you know that nearly everyone with PACS1 Syndrome has the same PACS1 gene mutation c.607C > T? This mutation causes a protein change identified as p.Arg203Trp (also written as p.R203W). This variant is most likely what stops PACS1 from performing its normal function and is the cause of our children's symptoms.

This is the only mutation that the PACS1 Syndrome Research Foundation has confirmed to be pathogenic in PACS1 and the only mutation that the PACS1 Syndrome Research Foundation is currently studying; therefore, it is extremely important that you answer the following question so that we know whether or not to contact you for future studies, including participation in our upcoming natural history study.

Please review your child’s genetics report and verify one of the selections below:

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

Yes! I would like to be added to the PACS1 Syndrome Research Foundation’s email list.
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).
Thank you for completing our contact registry!
If you have not yet done so, please consider sharing your child's story via our Warrior's Story Form.
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