Understanding enlarged tongues in Beckwith-Wiedemann Syndrome
Mechanisms of Macroglossia in Beckwith-Wiedemann Syndrome
Researchers will study tongue tissue from people with Beckwith-Wiedemann Syndrome to find why some have severely enlarged tongues and how different genetic types behave.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11324670 on NIH RePORTER |
What this research studies
If my child has Beckwith-Wiedemann Syndrome and a large tongue, the team will examine donated tongue tissue to see which cell types and genes are different. They will compare samples with high IGF2 activity to samples with low CDKN1C to link those genetic differences to tongue overgrowth. The researchers will use detailed cell-level analyses and laboratory models to test how altered cells drive the enlargement. This work uses the largest U.S. collection of BWS tongue samples to look for patterns that could point to new treatment approaches.
Who could benefit from this research
Good fit: Ideal participants are people with Beckwith-Wiedemann Syndrome—particularly infants or children with macroglossia—or families willing to donate surgical tongue tissue or take part in clinical evaluations.
Not a fit: People without BWS or whose tongue problems are caused by other conditions are unlikely to get direct benefit from this work.
Why it matters
Potential benefit: Could point to new treatments that reduce or prevent tongue overgrowth and lower the need for risky surgical removal.
How similar studies have performed: Work on skeletal muscle and satellite-cell signaling has helped other muscle disorders, but applying these approaches specifically to BWS-related macroglossia is largely novel.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Kalish, Jennifer Melissa — Children's Hosp of Philadelphia
- Study coordinator: Kalish, Jennifer Melissa
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.