Understanding how alternative splicing affects gene expression and disease
Regulation and impact of alternative splicing in biology and disease
['FUNDING_OTHER'] · UNIVERSITY OF CALIFORNIA-IRVINE · NIH-10993972
This study is looking at how the process of cutting and rearranging RNA, which is important for making our genes work properly, can go wrong and lead to genetic diseases and cancers, with the hope of finding new ways to treat these conditions.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA-IRVINE (nih funded) |
| Locations | 1 site (IRVINE, UNITED STATES) |
| Trial ID | NIH-10993972 on ClinicalTrials.gov |
What this research studies
This research investigates the process of pre-mRNA splicing, which is essential for the expression of most genes in humans. It focuses on how defects in splicing can lead to genetic diseases and contribute to various cancers. By using advanced techniques such as tissue culture models and bioinformatics, the research aims to uncover the molecular mechanisms that regulate splicing and how specific proteins interact with RNA elements to influence gene expression. The findings could provide insights into potential therapeutic targets for diseases caused by splicing defects.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with genetic disorders or cancers linked to splicing defects.
Not a fit: Patients with conditions unrelated to splicing or those who do not have genetic mutations affecting splicing may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new strategies for treating genetic diseases and cancers associated with splicing mutations.
How similar studies have performed: Previous research has shown promising results in understanding splicing mechanisms, indicating that this approach could lead to significant advancements in the field.
Where this research is happening
IRVINE, UNITED STATES
- UNIVERSITY OF CALIFORNIA-IRVINE — IRVINE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HERTEL, KLEMENS J — UNIVERSITY OF CALIFORNIA-IRVINE
- Study coordinator: HERTEL, KLEMENS 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.