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About Us
- A Note from our President and Founder
Contact Registry
- Our Warriors' Story Form
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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.

First Name:

Last Name:

Address:

Address Line 2:

City:

State:

Zip:

Country:

Email Address:

Relationship to individual diagnosed with PACS1 Syndrome:

Mother/Father

Stepmother/Stepfather

Foster Parent(s)

Grandmother/Grandfather

Brother/Sister

Aunt/Uncle

Other

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

Individuals First Name:

Individuals Last Name

Gender:

Male

Female

Race (select all that apply):

American Indian or Alaska Native

Asian

Black or African American.

Native Hawaiian or Other Pacific Islander.

White

No Response

Ethnicity

Hispanic or Latino

Not Hispanic or Latino

Current Age:

Age at diagnosis:

Has a diagnosis been confirmed via genetic testing?:

Yes

No

Waiting genetic testing results

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:

Yes, my child's genetic report shows the genetic mutation c.607C > T, or my child's genetic report shows the genetic mutation causes the protein variant p. Arg203Trp.

No, my child's genetics report shows a different mutation.

Unsure, I do not know how to interpret my child's genetics report/where to find this information. * We can help! If you need assistance determining whether your child has this specific genetic mutation/protein variant, please contact info@pacs1foundation.org.

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.

Yes

No

I'd like to learn more about how I can support the PACS1 Syndrome Research Foundation and the PACS1 community.

Yes

No

I would like to join the PACS1 Syndrome Research Foundation’s Private Facebook Group for Research Discussion (family members only).

Yes

No

Please let us know if there is anything else you would like to share.

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.

PACS1 Syndrome Research Foundation

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