Improving the catalog of human genes for better understanding of diseases
Official title: Exploring new approaches for enhanced human gene annotation
Funded at Johns Hopkins University · NIH-11010112 · Data updated 2026-11-12
This study is working on improving how we identify and understand human genes, especially those linked to diseases, by using new technology to analyze genetic information from different tissues, which can help researchers learn more about health and illness.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | January 1, 2025 |
| Project end | November 30, 2029 |
| Funding year | 2025 |
| Award (this year) | $387,500 |
| NIH project number | 1R35GM156470-01 |
| Project ID | NIH-11010112 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with genetic disorders or those interested in genetic studies related to human health.
✕Less likely to help
Patients without any genetic conditions or those not involved in genetic research may not benefit from this research.
What this research studies
This research focuses on enhancing the accuracy of human gene annotation using advanced computational methods. By leveraging RNA sequencing technology, the project aims to create a more complete catalog of human genes and their variants, particularly those found in abnormal tissues. The team has developed innovative tools, such as StringTie, which significantly improve the identification and quantification of genes. This work is crucial for advancing biomedical research and understanding the genetic causes of diseases.
Why it matters
Potential benefit: If successful, this research could lead to better diagnosis and treatment options for various genetic diseases.
How similar studies have gone: Previous research using RNA sequencing and computational methods has shown significant success in gene discovery and annotation.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Pertea, Mihaela — Johns Hopkins University
- Study coordinator: Pertea, Mihaela
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.