Understanding brain changes in Angelman syndrome
Official title: Investigating the roles of UBE3A and TRPML1 in extracellular vesicle regulation to understand Angelman syndrome pathogenesis
Funded at Western University of Health Sciences · NIH-11130279 · Data updated 2026-11-12
This work explores how certain proteins and tiny cell packages called extracellular vesicles affect brain development in people with Angelman syndrome.
Quick facts
| Grant type | R15 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Western University of Health Sciences NIH-funded |
| Lab location | 1 site (Pomona, United States) |
| Project start | August 1, 2014 |
| Project end | June 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $429,000 |
| NIH project number | 2R15MH101703-04A1 |
| Project ID | NIH-11130279 on NIH RePORTER |
Who could benefit from this research
✓Could help
This foundational research is not recruiting patients directly but aims to benefit individuals living with Angelman syndrome and related neurodevelopmental disorders.
✕Less likely to help
Patients not affected by Angelman syndrome or similar neurodevelopmental conditions would not directly benefit from this specific research.
What this research studies
Brain development is a very complex process, and when it goes wrong, it can lead to conditions like Angelman syndrome. This condition causes severe developmental delays, communication difficulties, and sometimes autism. We are looking closely at two specific proteins, UBE3A and TRPML1, which are known to be important for healthy brain function. We also want to understand how tiny messengers called extracellular vesicles, which carry information between brain cells, are involved. By studying these factors, we hope to uncover the root causes of Angelman syndrome.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of Angelman syndrome, potentially paving the way for new treatments or therapies in the future.
How similar studies have gone: Existing genetic and genomic studies have linked UBE3A deficiency to Angelman syndrome, and emerging evidence highlights the importance of TRPML1 and extracellular vesicles in brain development, suggesting this work builds on a growing body of knowledge.
Where this research is happening
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Western University of Health Sciences
Pomona, United States Active
Researchers
- Principal investigator: Bi, Xiaoning — Western University of Health Sciences
- Study coordinator: Bi, Xiaoning
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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Targeting the stress response in Angelman syndrome
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.
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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.
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.