Understanding how genetic changes affect growth and development in children with specific syndromes
Official title: Elucidating epigenetic mechanisms of disease and treatment in Weaver and Sotos syndromes
Funded at Johns Hopkins University · NIH-11131448 · Data updated 2026-11-12
This study is looking into how certain changes in our genes affect growth and brain development in children with Weaver and Sotos syndromes, with the hope of finding new treatments to help them grow and learn better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | April 4, 2025 |
| Project end | December 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $674,312 |
| NIH project number | 1R01HD115624-01A1 |
| Project ID | NIH-11131448 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with Weaver or Sotos syndromes, particularly those aged 0-11 years.
✕Less likely to help
Patients with other genetic disorders not related to epigenetic mechanisms may not benefit from this research.
What this research studies
This research investigates the epigenetic mechanisms behind Weaver and Sotos syndromes, which are genetic disorders that lead to abnormal growth and intellectual disabilities in children. By studying these conditions, the research aims to uncover how changes in the epigenome affect normal growth and neurodevelopment. The approach includes analyzing specific genetic disruptions and their impact on cellular pathways, with the goal of identifying potential pharmacological treatments that could correct these issues. This work could provide valuable insights into the broader implications of epigenetics in child health.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve growth and cognitive outcomes for children affected by these syndromes.
How similar studies have gone: Previous research has shown promise in understanding epigenetic mechanisms in other genetic disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Fahrner, Jill a — Johns Hopkins University
- Study coordinator: Fahrner, Jill a
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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.