Understanding the NSD1 gene's role in brain development and Sotos syndrome
Official title: Establishing foundational tools and datasets for investigation of NSD1 gene function in neural development
Funded at Broad Institute, INC. · NIH-10711291 · Data updated 2026-11-12
This study is looking at how changes in the NSD1 gene affect brain development in people with Sotos syndrome, which causes growth and learning challenges, to better understand why these symptoms happen.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Broad Institute, INC. NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project start | August 15, 2023 |
| Project end | August 14, 2025 |
| Funding year | 2023 |
| Award (this year) | $158,000 |
| NIH project number | 1R03TR004561-01 |
| Project ID | NIH-10711291 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Sotos syndrome or those with NSD1 gene mutations.
✕Less likely to help
Patients without Sotos syndrome or those who do not have mutations in the NSD1 gene may not benefit from this research.
What this research studies
This research investigates how mutations in the NSD1 gene affect neural development, particularly in patients with Sotos syndrome, which is characterized by overgrowth and developmental delays. The study focuses on the role of H3K36 dimethylation, a process crucial for gene regulation and DNA methylation, in brain cells. By examining the effects of NSD1 mutations on these processes, the research aims to uncover the mechanisms that lead to the symptoms observed in Sotos syndrome. The approach includes cellular phenotyping and analysis of gene expression in relevant human brain cell types.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for Sotos syndrome and related developmental disorders.
How similar studies have gone: Previous studies have shown promising results in understanding gene functions related to developmental disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Broad Institute, INC.
Cambridge, United States Active
Researchers
- Principal investigator: Barrett, Lindy Elise — Broad Institute, INC.
- Study coordinator: Barrett, Lindy Elise
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.