Genome editor therapy for Angelman syndrome in young children
Official title: Genome editor therapy for Angelman syndrome
Funded at Univ of North Carolina Chapel Hill · NIH-11512551 · Data updated 2026-11-12
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.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| 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 | August 1, 2025 |
| Project end | July 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $154,721 |
| NIH project number | 3UG3NS137515-01A1S1 |
| Project ID | NIH-11512551 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are children with Angelman syndrome who are in the early postnatal period or pre-symptomatic windows where paternal gene unsilencing could be most beneficial.
✕Less likely to help
Patients with Angelman syndrome outside the early postnatal window or with specific genetic contexts not compatible with the therapy may not benefit.
What this research studies
This project focuses on using a tiny AAV-delivered genome editor to reactivate the paternal UBE3A gene in neurons, with early studies in mouse and human cells guiding the plan. The first phase (UG3) will verify safety and feasibility of the nickase Cas9 approach in neonatal-like settings, aiming to minimize unintended DNA changes. If successful, it could pave the way for a treatment that lessens neurodevelopmental challenges in Angelman syndrome for young patients.
Why it matters
Potential benefit: If successful, the approach could lessen disability and improve development and daily functioning for children with Angelman syndrome.
How similar studies have gone: Previous work shows promise in unsilencing paternal UBE3A with Cas9-based strategies, but safety and delivery in neonates remain key questions.
Where this research is happening
-
Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Zylka, Mark J. — Univ of North Carolina Chapel Hill
- Study coordinator: Zylka, Mark J.
Related research
Other NIH-funded projects on the same topics.
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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.
-
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.
-
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.
-
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.
-
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.