A new biosensor to measure brain activity related to UBE3A mutations
Luminescence-based biosensor to non-invasively measure UBE3A activity in the brain
['FUNDING_R21'] · UNIV OF NORTH CAROLINA CHAPEL HILL · NIH-11127995
This study is working on a special tool that can safely check how active a gene called UBE3A is in the brain, which is important for people with conditions like Angelman syndrome and Dup15q syndrome, and it aims to help find better treatments for these disorders.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIV OF NORTH CAROLINA CHAPEL HILL (nih funded) |
| Locations | 1 site (CHAPEL HILL, UNITED STATES) |
| Trial ID | NIH-11127995 on ClinicalTrials.gov |
What this research studies
This research focuses on developing a luminescence-based biosensor that can non-invasively measure UBE3A activity in the brain. UBE3A is a gene linked to neurodevelopmental disorders such as Angelman syndrome and Dup15q syndrome, which are associated with autism. The biosensor aims to provide a way to monitor UBE3A activity over time, which is crucial for testing new therapies designed to normalize UBE3A levels. By improving the sensitivity of this biosensor, the research hopes to advance the understanding and treatment of these debilitating conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Angelman syndrome or Dup15q syndrome, particularly those with mutations affecting UBE3A.
Not a fit: Patients without UBE3A-related conditions or those with other unrelated neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more effective therapies for patients with Angelman syndrome and Dup15q syndrome.
How similar studies have performed: Other research has shown promise in using biosensors for monitoring gene activity, suggesting that this approach could be effective.
Where this research is happening
CHAPEL HILL, UNITED STATES
- 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.
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.
Conditions: 15q+ syndrome, Angelman Syndrome