How common 'jumping genes' (Alu elements) can change gene splicing and affect human development
Transposable Element Interaction and Its Impact on Human Development and Health
This project looks at whether interactions between common 'jumping genes' called Alu elements change how human genes are spliced and whether that can contribute to developmental traits and genetic disease.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Broad Institute, INC. NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project ID | NIH-11168740 on NIH RePORTER |
What this research studies
From my point of view, researchers will focus on a pair of Alu elements in the TBXT gene as a concrete example to show how interactions between transposable elements can alter pre-mRNA splicing. They will use molecular lab experiments, gene-editing and cell-based assays alongside comparative genomics across humans and apes to trace how these changes affect gene function. The team may also use animal models and analysis of genetic data to link the splicing changes to developmental outcomes and disease traits. Overall the work aims to move from basic DNA sequence patterns to explanations for how some genetic conditions arise.
Who could benefit from this research
Good fit: People with congenital or developmental conditions that may involve altered splicing or known TBXT-related abnormalities, or those willing to donate DNA or tissue samples, would be most relevant to this work.
Not a fit: People whose health problems are unrelated to genetic splicing mechanisms or who cannot provide samples are unlikely to benefit directly from participation in this project.
Why it matters
Potential benefit: If successful, this work could reveal previously hidden genetic causes of developmental disorders and point to new diagnostic markers or targets for therapies.
How similar studies have performed: Prior studies have shown that Alu elements can influence gene regulation, but using interactions between Alu pairs to explain human development and disease is a relatively new and novel approach.
Where this research is happening
Cambridge, United States
- Broad Institute, INC. — Cambridge, United States (Active)
Researchers
- Principal investigator: Xia, Bo — Broad Institute, INC.
- Study coordinator: Xia, Bo
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.