Exploring Familial Dysautonomia and its Impact on Nerve Cells
Understanding Neuronal Cell type-Specific Dysregulation in Familial Dysautonomia
['FUNDING_R01'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11126691
This research aims to uncover how a specific genetic change affects nerve cells in people with Familial Dysautonomia, a rare condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11126691 on ClinicalTrials.gov |
What this research studies
Familial Dysautonomia (FD) is a rare, inherited condition that affects the nervous system, leading to problems with pain and temperature sensation, reflexes, and balance. This condition is caused by a change in a gene called ELP1, which reduces a vital protein primarily in the central and peripheral nervous systems. While the ELP1 protein is reduced throughout the nervous system, peripheral nerves seem to be more affected, and we don't fully understand why. This project uses advanced models to pinpoint exactly how this gene change disrupts nerve cell development and function, especially in the peripheral nervous system. By understanding these specific molecular details, we hope to identify new targets for future treatments.
Who could benefit from this research
Good fit: This foundational research is relevant for patients diagnosed with Familial Dysautonomia, also known as HSAN type III or Riley-Day syndrome.
Not a fit: Individuals who do not have Familial Dysautonomia would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this research could lead to a deeper understanding of Familial Dysautonomia, paving the way for new therapies that specifically target the disease's underlying causes.
How similar studies have performed: Previous work by this laboratory has made remarkable progress in developing models for Familial Dysautonomia and understanding some of the disrupted developmental pathways.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SLAUGENHAUPT, SUSAN A — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: SLAUGENHAUPT, SUSAN A
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.