Epigenetic causes and potential treatment for overgrowth in Weaver and Sotos syndromes
Elucidating epigenetic mechanisms of disease and treatment in Weaver and Sotos syndromes
Researchers will explore how changes in gene packaging cause overgrowth and learning difficulties in people with Weaver or Sotos syndromes and will test a drug-like approach to correct those changes.
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 ID | NIH-11312691 on NIH RePORTER |
What this research studies
If you or your child has Weaver or Sotos syndrome, this project looks at how changes to DNA packaging (epigenetics) cause the overgrowth and learning problems seen in these conditions. Researchers will study patient-derived cells and biological models to map which cell types and genes are affected and how chromatin and transcription go awry. They will also test a drug-like approach that targets a shared histone mark to see whether those epigenetic changes can be corrected in cells or models. The goal is to find common pathways that could lead to treatments that reduce abnormal growth and improve development.
Who could benefit from this research
Good fit: Children or adults diagnosed with Weaver or Sotos syndrome, especially those willing to provide clinical information or donate blood or tissue samples, are the ideal candidates.
Not a fit: People without Weaver or Sotos syndrome or those whose growth or developmental issues come from unrelated causes are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, the work could identify a drug target that leads to treatments to reduce pathological overgrowth and improve neurodevelopment in these syndromes.
How similar studies have performed: Targeting histone marks is an active area of lab research, but applying this approach to Weaver and Sotos syndromes is largely experimental with limited prior clinical success.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Fahrner, Jill a — Johns Hopkins University
- Study coordinator: Fahrner, Jill a
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.