Understanding how genetic changes affect brain function in Neurofibromatosis
Official title: Investigating the Role of Somatic Mutations in Neurofibromatosis Brain
Funded at Boston Children's Hospital · NIH-10992105 · Data updated 2026-11-12
This study is looking at how certain genetic changes that happen after birth might affect memory and attention in people with Neurofibromatosis type 1 (NF), by comparing their brain cells to those of healthy individuals.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | July 1, 2023 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $74,284 |
| NIH project number | 5F32NS133029-02 |
| Project ID | NIH-10992105 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Neurofibromatosis type 1, particularly those experiencing neurological symptoms.
✕Less likely to help
Patients without a diagnosis of Neurofibromatosis or those who do not exhibit neurological deficits may not benefit from this research.
What this research studies
This research investigates the role of genetic mutations that occur after conception in individuals with Neurofibromatosis type 1 (NF), a condition that can lead to tumors and neurological deficits. By comparing the genetic makeup of brain cells from NF patients to those of healthy individuals, the study aims to uncover whether these mutations contribute to cognitive challenges such as memory and attention issues. The researchers will employ advanced sequencing techniques to analyze the genetic changes in brain cells, providing insights into the mechanisms behind these neurological impairments.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for cognitive deficits associated with Neurofibromatosis.
How similar studies have gone: Previous research has shown promising results in understanding genetic mutations in other conditions, suggesting potential success for this novel approach in Neurofibromatosis.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Snellings, Daniel — Boston Children's Hospital
- Study coordinator: Snellings, Daniel
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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.