Understanding brain changes in Angelman syndrome
Investigating the roles of UBE3A and TRPML1 in extracellular vesicle regulation to understand Angelman syndrome pathogenesis
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 ID | NIH-11130279 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: This foundational research is not recruiting patients directly but aims to benefit individuals living with Angelman syndrome and related neurodevelopmental disorders.
Not a fit: Patients not affected by Angelman syndrome or similar neurodevelopmental conditions would not directly benefit from this specific research.
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 performed: 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
Pomona, United States
- Western University of Health Sciences — Pomona, United States (Active)
Researchers
- Principal investigator: Bi, Xiaoning — Western University of Health Sciences
- Study coordinator: Bi, Xiaoning
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.