SETBP1

Learn more about the SETBP1 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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Presentations

Simons Searchlight Family & Research Conference 2020

SETBP1 Virtual Conference

 

General Session 1

 

General Session 2

 

SETBP1 2019 Virtual Family Meeting

Presentations Included:

  • “SETBP1 Overview” – Dr. Wendy Chung
  • “Childhood Apraxia of Speech and Other Communication Disorders in SETBP1” – Nancy Kaufman, MA, CCC-SLP
  • “Speech and Language Abilities in Individuals with SETBP1 Loss of Function Variants” – Prof. Angela Morgan, PhD
  • Q&A Sessions

 

SETBP1 2018 Virtual Family Meeting

Presentations Included:

  • “SETBP1 Overview”- Dr. Wendy Chung
  • “SETBP1 and Schinzel Geidion Syndrome” – Dr. Wendy Chung
  • “Medical Management of Neurodevelopmental Concerns in SETBP1 Dirosder” – Dr. Siddharth Srivastiva
  • Q&A Session

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Research Article Summaries

Below, we have summarized research articles about changes in the SETBP1 gene. We hope you find this information helpful.

The information available about SETBP1 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.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

 

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Original research article by R. Acuna-Hidalgo et al. (2017).

Read the abstract here and the Simons Searchlight summary here.

 

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Original research article by B.P. Coe et al. (2014).

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 SETBP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

TIGER Study

The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in SETBP1.

Click here to learn more about this opportunity.

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Family Stories

Stories from SETBP1 families:

Click here to share your family’s story!