Understanding how UBE3A gene expression is regulated in neurons
Regulation of UBE3A Imprinted Expression
['FUNDING_R01'] · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · NIH-10479865
This study is looking at how a specific gene related to Angelman syndrome works in brain cells, using cells from people with the condition, to find out how we might help improve treatments for those affected by UBE3A-related issues.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CONNECTICUT SCH OF MED/DNT (nih funded) |
| Locations | 1 site (FARMINGTON, UNITED STATES) |
| Trial ID | NIH-10479865 on ClinicalTrials.gov |
What this research studies
This research investigates the specific mechanisms that control the expression of the UBE3A gene in neurons, particularly focusing on the role of a long non-coding RNA called UBE3A-ATS. By using patient-derived induced pluripotent stem cells from individuals with Angelman syndrome, the study aims to explore how UBE3A-ATS influences the silencing of the paternal UBE3A allele. The research will examine various regulatory elements and their timing during neuronal development to better understand UBE3A imprinting. This could lead to insights into potential therapeutic strategies for conditions related to UBE3A dysfunction.
Who could benefit from this research
Good fit: Ideal candidates for participation are individuals diagnosed with Angelman syndrome or those with related genetic conditions affecting UBE3A expression.
Not a fit: Patients without genetic conditions related to UBE3A or those who do not have a neurological component may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for Angelman syndrome and other disorders related to UBE3A gene regulation.
How similar studies have performed: While the specific mechanisms of UBE3A regulation are still being explored, similar research approaches have shown promise in understanding gene imprinting and its implications for neurological disorders.
Where this research is happening
FARMINGTON, UNITED STATES
- UNIVERSITY OF CONNECTICUT SCH OF MED/DNT — FARMINGTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: GRAVELEY, BRENTON R. — UNIVERSITY OF CONNECTICUT SCH OF MED/DNT
- Study coordinator: GRAVELEY, BRENTON R.
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 below.