PURA

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

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReview for PURA.

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Research Article Summaries

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

The information available about PURA 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.

 

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Original research article by D. Hunt et al. (2014).

Read the article here and the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about PURA 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

We do not currently have any stories from PURA families.

Click here to share your family’s story!