Exploring how long-read technology can improve our understanding of gene expression and genomic medicine.
Official title: Long-read strategies for elucidating transcriptome complexity and advancing genomic medicine
Funded at Children's Hosp of Philadelphia · NIH-11089041 · Data updated 2026-11-12
This study is looking at how genes in our cells can create different versions of themselves, which might help us understand diseases better and lead to more accurate diagnoses and treatments for patients.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | June 1, 2025 |
| Project end | April 30, 2030 |
| Funding year | 2025 |
| Award (this year) | $445,000 |
| NIH project number | 1R35GM158057-01 |
| Project ID | NIH-11089041 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with known genetic disorders or those exhibiting unexplained symptoms that may have a genetic basis.
✕Less likely to help
Patients with purely environmental or non-genetic conditions may not receive any benefit from this research.
What this research studies
This research focuses on using advanced long-read transcriptomics to better understand the complexity of gene expression in mammalian cells. By analyzing how pre-mRNA alternative splicing contributes to the diversity of gene products, the project aims to uncover the full range of transcripts produced by genes. This approach allows researchers to identify and interpret variations in splicing that may be linked to diseases, providing a more comprehensive view of how genes function in health and illness. Patients may benefit from insights gained through this research, which could lead to improved genetic diagnoses and targeted therapies.
Why it matters
Potential benefit: If successful, this research could lead to more accurate genetic diagnoses and personalized treatment options for patients with complex genetic disorders.
How similar studies have gone: Other research has shown promising results using long-read transcriptomics, indicating that this approach has the potential to significantly advance our understanding of gene expression.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Lin, Lan — Children's Hosp of Philadelphia
- Study coordinator: Lin, Lan
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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.