Understanding how gene instructions are put together in health and disease
Regulation and impact of alternative splicing in biology and disease
['FUNDING_OTHER'] · UNIVERSITY OF CALIFORNIA-IRVINE · NIH-11373915
This project explores how our bodies assemble genetic instructions, aiming to understand why errors in this process can lead to human diseases like cancer.
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-11373915 on ClinicalTrials.gov |
What this research studies
Our bodies rely on a process called pre-mRNA splicing to correctly read our genes and make proteins. When this process goes wrong, it can cause various human genetic diseases and contribute to different types of cancer. This work looks closely at the basic steps of splicing and how our cells recognize the right parts of our genes to put together. We use advanced lab techniques, including cell models and detailed biochemical tests, to uncover the exact molecular mechanisms that control this crucial process. By understanding these fundamental controls, we hope to find new ways to address diseases caused by splicing errors.
Who could benefit from this research
Good fit: Patients with genetic diseases or cancers caused by errors in pre-mRNA splicing may ultimately benefit from the knowledge gained from this basic science.
Not a fit: Patients whose conditions are not related to defects in pre-mRNA splicing would likely not receive direct benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could provide foundational knowledge to develop new treatments for human genetic diseases and cancers linked to errors in gene splicing.
How similar studies have performed: This research builds upon existing knowledge of splicing mechanisms but also explores novel directions regarding how regulatory proteins influence splice site choice.
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.