Switching off harmful NEFL gene changes that cause CMT2E
Allele-specific inactivation for dominant negative NEFL Mutations
This project develops precise gene-editing tools to switch off only the mutant NEFL gene that causes Charcot‑Marie‑Tooth type 2E so people with that genetic form of CMT might avoid nerve damage.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11144518 on NIH RePORTER |
What this research studies
Researchers are creating precise gene-editing tools that recognize and inactivate only the mutant NEFL gene copy responsible for dominant Charcot‑Marie‑Tooth type 2E. They plan to use common nearby genetic differences to guide allele-specific editing so one treatment could work for many different NEFL mutations. The approach will be tested in laboratory cell models and animal models to measure how well it stops the toxic effect without harming the normal NEFL gene. Successful lab results would support moving toward safety testing and eventual clinical trials for patients with CMT2E.
Who could benefit from this research
Good fit: People diagnosed with Charcot‑Marie‑Tooth type 2E who have a known dominant mutation in the NEFL gene would be the most relevant candidates.
Not a fit: People with recessive NEFL mutations, other genetic causes of CMT, or whose specific NEFL change cannot be targeted by the designed allele-specific approach may not benefit.
Why it matters
Potential benefit: If successful, this could prevent or slow motor nerve degeneration in people with dominant NEFL mutations by disabling only the disease-causing gene copy.
How similar studies have performed: Allele‑specific editing and CRISPR approaches have shown promise in cell and animal studies and some CRISPR therapies are entering human trials, but applying this exact allele-specific inactivation strategy to NEFL/CMT2E is new.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Judge, Luke M — University of California, San Francisco
- Study coordinator: Judge, Luke M
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.