Targeting the stress response in Angelman syndrome
Funded at Washington University · NIH-11358877 · Data updated 2026-11-12
Aims to understand how loss of a brain gene called UBE3A disrupts pathways in Angelman syndrome and to design therapies that calm the stress response in affected neurons.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | August 6, 2026 |
| Project end | May 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $641,417 |
| NIH project number | 1R01MH144153-01 |
| Project ID | NIH-11358877 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with Angelman syndrome or Angelman-related neurodevelopmental features, particularly children and young people involved in related clinical or research collaborations.
✕Less likely to help
Patients without Angelman syndrome or related neurodevelopmental conditions may not benefit directly from this research.
What this research studies
This project studies why Angelman syndrome occurs by looking at neuronal pathways that go awry when UBE3A is missing. It builds on early findings that asparagine synthetase (ASNS) and the cellular stress response are involved, with the goal of translating this knowledge into therapeutic design. Researchers will examine how the integrated stress response affects protein production in human neurons and Angelman model mice, and how correcting ASNS levels might improve brain structure and behavior. The work combines proteomics, animal models, and neuronal studies to identify targets for potential treatments that could help children with Angelman syndrome.
Why it matters
Potential benefit: If successful, this work could lead to new therapies that reduce stress-driven brain changes and improve development and behavior for people with Angelman syndrome.
How similar studies have gone: Prior studies have linked the stress-response pathway and ASNS to neurodevelopmental disorders, with some animal data suggesting behavioral improvements when this pathway is modulated.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Yi, Jason J — Washington University
- Study coordinator: Yi, Jason J
Related research
Other NIH-funded projects on the same topics.
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Genome editor therapy for Angelman syndrome in young children
A University of North Carolina team is exploring a gene-editing approach to turn on the silent UBE3A gene in people with Angelman syndrome to reduce symptoms.
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MicroRNA pathways in Angelman Syndrome: novel targets for therapy
A small study explores how specific microRNAs may influence Angelman syndrome and whether targeting them could lead to new treatments.
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Delta brain rhythms in Angelman syndrome
Scientists will study unusual brain wave patterns in Angelman syndrome to understand how these signals relate to behavior and guide future treatments for affected children and adults.
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Small molecule therapy to turn on the paternal UBE3A gene in Angelman syndrome
A small molecule drug is being developed to turn on the paternal UBE3A gene in Angelman syndrome, with the goal of improving brain function.
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UBE3A mosaicism and Angelman syndrome phenotypes
A study from UNC Chapel Hill will explore how the mix of neurons with active paternal UBE3A affects Angelman syndrome symptoms using a special mouse model and gene therapy tools.
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How body‑sensing nerves affect walking in Angelman syndrome
This project looks at whether problems with a nerve sensor called PIEZO2 cause balance and walking problems in people with Angelman syndrome.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.