Investigating how mutations in the USP7 gene affect brain development in children with Hao-Fountain syndrome
Understanding the effect of Hao-Fountain syndrome-causing mutations on neuronal development
This study is looking at Hao-Fountain syndrome, a rare condition in kids caused by changes in a specific gene, and it aims to create a model using cells from patients to see how these changes affect brain cell development and function, which could help us understand the condition better and find tailored treatments.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Sch of Med/dnt NIH-funded |
| Lab location | 1 site (Farmington, United States) |
| Project ID | NIH-10987390 on NIH RePORTER |
What this research studies
This research focuses on Hao-Fountain syndrome, a rare neurodevelopmental disorder in children caused by mutations in the USP7 gene. The study aims to create a human-based cellular model using patient-derived stem cells to explore how these mutations impact neuronal development and function. By differentiating these stem cells into cortical neurons, researchers will assess the effects of the mutations on neuronal morphology and enzymatic activity. The findings could lead to a better understanding of the disease and pave the way for personalized therapies.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old diagnosed with Hao-Fountain syndrome or carrying mutations in the USP7 gene.
Not a fit: Patients with other neurodevelopmental disorders unrelated to Hao-Fountain syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments and interventions for children affected by Hao-Fountain syndrome.
How similar studies have performed: While research on similar neurodevelopmental disorders has shown promise, the specific approach for Hao-Fountain syndrome is novel and untested.
Where this research is happening
Farmington, United States
- University of Connecticut Sch of Med/dnt — Farmington, United States (Active)
Researchers
- Principal investigator: Bezsonova, Irina — University of Connecticut Sch of Med/dnt
- Study coordinator: Bezsonova, Irina
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.