Genes and disease modifiers in ALS and related motor neuron conditions
Uncovering new genes and disease modifiers for ALS and related disorders
This project looks for genetic changes that cause or change the course of ALS and related motor neuron conditions to help people affected by them.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Miami School of Medicine NIH-funded |
| Lab location | 1 site (Coral Gables, United States) |
| Project ID | NIH-11171887 on NIH RePORTER |
What this research studies
From a patient’s perspective, researchers will analyze DNA and clinical information from people with ALS and related motor neuron diseases to find new genes and factors that affect risk and progression. They will expand rare-variant analysis to include coding, non-coding, and structural genetic changes and will integrate large public control datasets. The team will run cloud-based workflows and create a public data portal to share results and speed collaboration. Advanced statistical models will reconstruct individual disease trajectories from irregular clinic visits so genetics can be linked to how the disease unfolds over time.
Who could benefit from this research
Good fit: People diagnosed with ALS, primary lateral sclerosis, progressive muscular atrophy, hereditary spastic paraplegia, or known carriers of ALS-linked mutations (for example C9orf72) would be the most likely candidates to contribute samples or clinical data.
Not a fit: People without a motor neuron disease diagnosis or those expecting an immediate personal treatment effect should not expect direct therapeutic benefit from participating in this research.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis, make disease course predictions more accurate, and point to new targets for future treatments.
How similar studies have performed: Previous genetic studies have identified genes such as C9orf72 but much heritability remains missing, so this project builds on past successes while applying newer analytic approaches.
Where this research is happening
Coral Gables, United States
- University of Miami School of Medicine — Coral Gables, United States (Active)
Researchers
- Principal investigator: Van Blitterswijk, Marka — University of Miami School of Medicine
- Study coordinator: Van Blitterswijk, Marka
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.