How RNA splicing changes driven by ESRP proteins affect birth defects and cancer
Comprehensive identification and functional study of Esrp-regulated isoforms during epithelial-mesenchymal transition.
This project looks at how changes in how genes are spliced by ESRP proteins may lead to orofacial clefts and cancer using new long-read single-cell methods.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11301930 on NIH RePORTER |
What this research studies
From a patient's perspective, the team will use new long-read single-cell RNA sequencing and advanced computational analysis to map the exact RNA isoforms controlled by ESRP1 and ESRP2 during epithelial-mesenchymal transition (EMT). They will combine data from human-relevant tissues and model systems (mouse and zebrafish) to connect specific isoform changes to orofacial cleft formation and cancer-related EMT. Functional tests in cells and animals will follow to see which isoform changes actually change tissue behavior. The goal is to move from a list of splicing events to a clear picture of which isoforms matter for disease.
Who could benefit from this research
Good fit: People with orofacial clefts, families affected by craniofacial birth defects, or patients with cancers involving EMT are most likely to be relevant to this research.
Not a fit: Individuals with conditions unrelated to splicing changes or whose disease does not involve ESRP-regulated pathways are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could identify specific RNA isoforms that cause craniofacial birth defects or drive cancer progression, pointing to better diagnostics and potential new treatment targets.
How similar studies have performed: Previous work showed ESRP proteins control splicing in EMT and cleft formation, but applying long-read single-cell sequencing to define functionally important isoforms is a relatively new approach without established clinical translation.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Liao, Eric Chien-Wei — Children's Hosp of Philadelphia
- Study coordinator: Liao, Eric Chien-Wei
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.