Understanding how NEK1 mutations affect ALS and FTD
Investigating the Contribution of ALS/FTD-Associated Mutations in the NEK1 Kinase to Disease Pathophysiology
This study is looking at how changes in a specific gene called NEK1 might contribute to conditions like ALS and frontotemporal dementia, using different models to better understand how these changes affect the nerve cells that control muscle movement, which could help us learn more about these diseases.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11070349 on NIH RePORTER |
What this research studies
This research investigates the role of NEK1 mutations in the development of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). By utilizing various models, including patient-derived stem cells and animal models, the study aims to uncover the cellular mechanisms that lead to motor neuron dysfunction associated with these diseases. The research will focus on how these genetic mutations impact the function of motor neurons, which are crucial for muscle movement. This comprehensive approach could provide insights into the underlying causes of ALS and FTD.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with ALS or FTD, particularly those with known NEK1 mutations.
Not a fit: Patients with sporadic ALS or FTD without any genetic mutations related to NEK1 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for ALS and FTD patients by targeting the mechanisms affected by NEK1 mutations.
How similar studies have performed: Previous research has shown promising results in understanding genetic contributions to ALS, making this approach both relevant and potentially impactful.
Where this research is happening
Chicago, United States
- Northwestern University at Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Kiskinis, Evangelos — Northwestern University at Chicago
- 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.