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A treatment for SETD5 subtype of autism

January 1, 2021 - January 1, 2025

The results of this study will allow for a more detailed characterization of communication skills, social reciprocity, repetitive behaviors, and motor skills in people with ASD and co-occurring developmental delay or intellectual disability, as well as ASD secondary to Angelman syndrome or Dup15q syndrome.

What are the goals of the study?

We will create stem cells from the skin biopsy to generate “mini brains” from autistic individuals carrying SETD5 mutations. We will use the brain cells to understand how the mutations cause autism and find specific treatments for this group.

What will happen during the visit or online?

We will collect clinical information and a skin biopsy.

How will this help families?

A successful project will generate a specific treatment for this subtype of autism.

Eligibility Criteria

Autistic individuals with mutations on the SETD5 gene, confirmed by a genetic test.

Contact Information
Research Study Website
UC San Diego

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