How NEK1 gene changes affect ALS and related dementia
Investigating the Contribution of ALS/FTD-Associated Mutations in the NEK1 Kinase to Disease Pathophysiology
Researchers are looking at how changes in the NEK1 gene damage motor neurons in people with ALS and ALS-linked frontotemporal dementia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11317216 on NIH RePORTER |
What this research studies
This project uses cells made from patient stem cells, fruit fly models, engineered cell systems, and brain/spinal cord tissue from people who had ALS to find how NEK1 mutations harm motor neurons. Scientists will compare NEK1 mutant and normal cells to identify biochemical changes, including which proteins NEK1 modifies. They will link those molecular changes to neuron function and behavior in animal models and examine postmortem patient tissue for the same signatures. The combined approach aims to connect genetic changes with the cell and tissue changes seen in ALS/FTD.
Who could benefit from this research
Good fit: People with ALS or ALS/FTD, especially those known to carry NEK1 mutations or willing to donate tissue or cells for research, would be ideal contributors.
Not a fit: Patients without NEK1-related disease or those seeking immediate clinical treatment are unlikely to get direct personal benefit from this basic research.
Why it matters
Potential benefit: If successful, the work could reveal targets for new treatments or biomarkers that help diagnose or slow ALS/FTD caused by NEK1 changes.
How similar studies have performed: Previous genetic and cellular studies have linked NEK1 loss-of-function to increased ALS risk, but detailed mechanisms in human-derived neurons remain relatively untested and are the focus here.
Where this research is happening
Chicago, United States
- Northwestern University — Chicago, United States (Active)
Researchers
- Principal investigator: Kiskinis, Evangelos — Northwestern University
- Study coordinator: Kiskinis, Evangelos
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.