Understanding nerve damage in Giant Axonal Neuropathy
Elucidating cellular mechanisms underlying neurodegeneration
This work aims to uncover how nerve cells are damaged in Giant Axonal Neuropathy, a rare condition affecting the nervous system.
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-11092140 on NIH RePORTER |
What this research studies
Giant Axonal Neuropathy (GAN) is a serious genetic condition that causes nerve damage, leading to neurological symptoms. In people with GAN, important structures within nerve cells, called intermediate filaments, become disorganized and clump together, causing the nerve fibers to swell and break down. We believe these clumps create blockages that prevent essential cell parts, like mitochondria and lysosomes, from moving freely within the nerve cells. Additionally, we think a protein called gigaxonin, which is faulty in GAN, might also disrupt the cell's natural cleaning process, called autophagy, making the problem worse. By exploring these cellular issues, we hope to better understand how GAN progresses.
Who could benefit from this research
Good fit: This foundational research is relevant to patients diagnosed with Giant Axonal Neuropathy and their families.
Not a fit: Patients without Giant Axonal Neuropathy are unlikely to directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could reveal fundamental causes of nerve damage in GAN, paving the way for new treatments to slow or stop the disease.
How similar studies have performed: This research builds on existing knowledge and preliminary data, testing specific hypotheses about the cellular mechanisms of GAN.
Where this research is happening
Chicago, United States
- Northwestern University — Chicago, United States (Active)
Researchers
- Principal investigator: Opal, Puneet — Northwestern University
- Study coordinator: Opal, Puneet
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.