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.
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.
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.
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The latest updates from our Foundation's Research Program.
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Ways to advocate for PACS1 Syndrome awareness and support.
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Opportunities to volunteer and contribute to our fundraising efforts.