HIVEP2

Learn more about the HIVEP2 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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Simons Searchlight Presentations

2016 Virtual Family Meeting

Presentations Included:

  • “HIVEP2: What We Know” – Dr. Wendy Chung
  • “Dealing with Challenging Behaviors” – Dr. Cora Taylor
  • Q&A Session

2017 Virtual Family Meeting

Presentations Included:

  • “HIVEP2: What We Know” – Dr. Wendy Chung
  • “Supporting Communication Skills for Individuals with HIVEP2” – Dr. Marissa Mitchel, M.S., CCC-SLP
  • “Medical Management of Neurodevelopmental Concerns in HIVEP2 Disorder” – Dr. Siddharth Srivastiva, MD
  • Q&A session

2019 Virtual Family Meeting

Presentation Includes:

  • “HIVEP2: What We Know” – Dr. Wendy Chung
  • “Autism and Other Neurodevelopmental Features of HIVEP2 Disorder” – Dr. Siddharth Srivastiva, MD
  • Q&A Session

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Research Article Summaries

Below, we have summarized research articles about changes in the HIVEP2 gene. We hope you find this information helpful.

The information available about HIVEP2 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.

 

Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features

Original research article by H. Steinfield et al. (2016).

Read the article here and the Simons Searchlight summary here.

 

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

Original research article by S. Srivastava et al. (2016).

Read the abstract here and the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about HIVEP2 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 HIVEP2 families:

Click here to share your family’s story!