How changes in the PUM1 gene lead to two different brain disorders
Deciphering the Role of the Pumilio1 in Two Distinct Neurological Diseases
This project connects specific PUM1 gene changes to either adult-onset balance problems or a severe developmental brain disorder to guide future care for people with ataxia or developmental delays.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11310799 on NIH RePORTER |
What this research studies
Researchers at Columbia compare different PUM1 mutations found in people with experiments in cells and mouse models to understand why some mutations cause mild, late-onset ataxia while others cause a severe developmental syndrome. They measure PUM1 and ATXN1 protein levels and study how PUM1 binds the 3' untranslated region of target genes to control their production. The team uses mouse genetic crosses that mimic human mutations and collects genetic and clinical information from patients with PUM1 variants to link specific changes to symptoms. Results are intended to improve diagnosis, genetic counseling, and point toward targets for future treatments.
Who could benefit from this research
Good fit: Ideal candidates include people (or families) with known PUM1 gene variants, individuals with unexplained adult-onset ataxia, or those with early developmental delay who are willing to provide genetic and clinical information.
Not a fit: People whose symptoms are caused by other non-PUM1 genetic mutations or non-genetic causes of ataxia or developmental delay are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could improve diagnosis and prognostic information for people with PUM1-related conditions and identify molecular targets for future therapies.
How similar studies have performed: Previous work from this team and others has already shown in mice and in several human cases that PUM1 loss alters ATXN1 levels and can cause ataxia-like symptoms, so this grant builds on those earlier findings.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Gennarino, Vincenzo Alessandro — Columbia University Health Sciences
- Study coordinator: Gennarino, Vincenzo Alessandro
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.