Developing a small molecule treatment for Angelman syndrome
Official title: Small Molecule Therapeutic Discovery for Angelman Syndrome
Funded at Univ of North Carolina Chapel Hill · NIH-11123115 · Data updated 2026-11-12
This study is looking at a new treatment for Angelman syndrome that could help improve the lives of those affected by it, by testing a special molecule in mice to see how it affects their behavior and brain function before moving on to trials with people.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project start | June 1, 2023 |
| Project end | May 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $575,490 |
| NIH project number | 5R01NS131615-03 |
| Project ID | NIH-11123115 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Angelman syndrome, particularly those with the genetic profile related to UBE3A.
✕Less likely to help
Patients with Angelman syndrome who do not have the specific genetic deletions or mutations targeted by this research may not benefit.
What this research studies
This research focuses on Angelman syndrome, a severe neurodevelopmental disorder caused by the deletion of a specific gene. The team has discovered a small molecule that can unsilence the paternal allele of the UBE3A gene in neurons, which is crucial for treating this condition. The approach involves testing this molecule in model mice to observe its effects on behavior and brain function, with the goal of advancing to clinical trials for human patients. The research aims to establish a non-invasive treatment that could significantly improve the lives of those affected by Angelman syndrome.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking treatment that reverses the symptoms of Angelman syndrome, providing lifelong benefits to patients.
How similar studies have gone: While the approach of using small molecules to unsilence genes is innovative, similar strategies have shown promise in other genetic disorders, indicating potential for success.
Where this research is happening
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Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Philpot, Benjamin D — Univ of North Carolina Chapel Hill
- Study coordinator: Philpot, Benjamin D
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.