Investigating how genetic changes affect gene expression and disease in Friedreich’s ataxia
Single-cell dissection of chromatin architecture mechanisms connecting pathologic instability and transcriptional silencing
This study is looking at how certain tiny changes in our DNA can cause problems like Friedreich’s ataxia, especially affecting the heart and nervous system, to help us understand why these issues happen and how they might be linked to the way our genes are organized in our cells.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10911938 on NIH RePORTER |
What this research studies
This research focuses on understanding the role of short tandem repeats (STRs) in the human genome, particularly how their instability can lead to diseases like Friedreich’s ataxia. By examining the relationship between STR expansion, gene expression, and the structural organization of the genome, the study aims to uncover the mechanisms that contribute to cardiac and neuronal issues in affected individuals. The research employs advanced techniques to analyze how these genetic changes impact the positioning of genes within the cell nucleus, which may influence their activity and contribute to disease progression.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Friedreich’s ataxia, particularly those experiencing cardiac symptoms.
Not a fit: Patients with other genetic disorders unrelated to short tandem repeats or those without any genetic predisposition to Friedreich’s ataxia may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the mechanisms of Friedreich’s ataxia, potentially paving the way for targeted therapies that address the underlying genetic causes of the disease.
How similar studies have performed: Previous research has shown promising results in understanding the role of STRs in various genetic disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Phillips-Cremins, Jennifer Elizabeth — University of Pennsylvania
- Study coordinator: Phillips-Cremins, Jennifer Elizabeth
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.