Understanding how NEK1 mutations affect ALS and FTD
Official title: Investigating the Contribution of ALS/FTD-Associated Mutations in the NEK1 Kinase to Disease Pathophysiology
Funded at Northwestern University at Chicago · NIH-11070349 · Data updated 2026-11-12
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 start | July 15, 2023 |
| Project end | April 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $759,016 |
| NIH project number | 5R01NS134166-03 |
| Project ID | NIH-11070349 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with ALS or FTD, particularly those with known NEK1 mutations.
✕Less likely to help
Patients with sporadic ALS or FTD without any genetic mutations related to NEK1 may not benefit from this research.
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.
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 gone: 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
-
Northwestern University at Chicago
Chicago, United States Active
Researchers
- Principal investigator: Kiskinis, Evangelos — Northwestern University at Chicago
- Study coordinator: Kiskinis, Evangelos
Related research
Other NIH-funded projects on the same topics.
-
High-intensity exercise as a treatment for Parkinson's disease
This study is looking at whether doing high-intensity endurance exercise can help people who have just been diagnosed with Parkinson's disease feel better and slow down their symptoms, especially since current medications don't always do the trick.
-
Software to quickly assess organ dose after radionuclide exposure
This study is creating a helpful software tool that quickly calculates how much radiation your organs absorb after you've taken certain radioactive substances, so you can get better care and treatment based on your individual needs.
-
Investigating innovative approaches to improve health outcomes.
This study is looking for better ways to improve your care and treatment, so you can get more personalized options that work best for you.
-
Investigating innovative approaches to improve health outcomes.
This study is looking for new ways to improve care and treatment for patients, and if you join, you might help test some exciting new methods that could lead to better health for everyone.
-
Investigating innovative approaches to improve health outcomes.
This study is looking for ways to improve care and treatment for patients like you, by trying out new methods that could help manage your health better.
-
Investigating core biological processes
This study is all about exploring important biological processes that affect our health, and it invites patients to help discover new ways to improve care for everyone.
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.