Finding factors that change TDP-43 in ALS and frontotemporal dementia
Identification of TDP-43 modifiers through single-cell transcriptional and epigenomic dissection of ALS and FTLD-MND
Researchers are using single-cell gene and epigenetic profiling to find molecules that change TDP-43 behavior in people with ALS and frontotemporal dementia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project ID | NIH-11166549 on NIH RePORTER |
What this research studies
This project looks at individual brain and spinal cord cells from people with ALS and FTLD-MND to see which genes and epigenetic marks are linked to harmful TDP-43 changes. Scientists will profile many cell types, including motor neurons and glia, to compare affected and unaffected regions. They will use advanced computational models to pinpoint candidate modifier genes and pathways and then test those leads in experimental systems. The goal is to understand why certain cells die and to find molecular targets that could be pursued for therapies.
Who could benefit from this research
Good fit: Ideal participants would be people diagnosed with ALS or frontotemporal dementia/MND who can provide clinical information and, if applicable, consent for tissue or blood donation for research.
Not a fit: People seeking immediate treatment benefit or those with rare non–TDP-43 forms of motor neuron disease may not directly benefit from this project.
Why it matters
Potential benefit: If successful, this work could reveal new drug targets or biomarkers that help slow or prevent neuron loss in ALS and related frontotemporal dementia.
How similar studies have performed: Previous single-cell studies have mapped cell-type changes in neurodegeneration and suggested pathways, but applying combined single-cell transcriptional and epigenomic profiling specifically to identify TDP-43 modifiers is relatively novel.
Where this research is happening
Pittsburgh, United States
- University of Pittsburgh at Pittsburgh — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Donnelly, Christopher James — University of Pittsburgh at Pittsburgh
- Study coordinator: Donnelly, Christopher James
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.