CHAMP1

Below is a summary for the CHAMP1 gene observed in research publications. This is not meant to take the place of medical advice.

LATEST REGISTRY REPORT

Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Sharing your information is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

What is CHAMP1-related syndrome?

CHAMP1-related syndrome happens when there are changes to the CHAMP1 gene. These changes can keep the gene from working as it should.

Key Role

The CHAMP1 gene plays a key role in the growth of brain cells.

Symptoms

Because the CHAMP1 gene is important in the growth and function of brain cells, many people who have CHAMP1-related syndrome have:

Intellectual disability
Speech impairments
Small head, also called microcephaly
Low muscle tone

Do people who have CHAMP1-related syndrome look different?

People who have CHAMP1-related syndrome may look different. Appearance can vary and can include some but not all of these features:

Open mouth
Thin upper lip
Low muscle tone in the face

Support Resources

Simons Searchlight Community – CHAMP1 Facebook group
CHAMP1 Foundation Website – CHAMP1Foundation.org – CHAMP1 Research – Facebook page – CHAMP1 Foundation – Twitter
CHAMP1 Patient Support Group – champ1gene.com – CHAMP1 Gene Mutation – Facebook page – CHAMP1 Gene Mutation – Twitter
Geisinger Developmental Brain Disorder Gene Database – CHAMP1

Presentations

CHAMP1 2019 Virtual Family Meeting

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.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for CHAMP1 articles can be found here.

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.

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.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

Family Stories

Stories from CHAMP1 families:

Click here to share your family’s story!

Previous Registry Reports