CHAMP1

Learn more about the CHAMP1 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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Presentations

CHAMP1 2019 Virtual Family Meeting

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Research Article Summaries

Below, we have summarized research articles about changes in the CHAMP1 gene. We hope you find this information helpful.

The information available about CHAMP1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

 

De novo truncating mutations in the kinetochore-microtubules attachment gene CHAMP1 cause syndromic intellectual disability

Original research article by B. Isidor et al. (2016).

Read the abstract here and read the Simons Searchlight summary here.

 

De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment

Original research article by M. Hempel et al. (2015).

Read the article here and read the Simons Searchlight summary here.

 

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CHAMP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

Stories from CHAMP1 families:

Click here to share your family’s story!