Understanding genetic risk for cleft lip and palate using genes and 3‑D face scans
Integration of polygenic risk and facial morphometrics to decipher the genetic susceptibility of orofacial clefting
This project combines genetic risk scores with 3‑D facial measurements to help identify children who may be more likely to develop cleft lip and/or palate.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11247522 on NIH RePORTER |
What this research studies
If your child has or is at risk for a cleft, this work uses DNA and 3‑D facial images to look for patterns that link genes and facial shape to cleft risk. Researchers will create a combined genetic risk score from many common gene variants and pair that with detailed 3‑D face measurements. They will use new statistical methods designed to work across diverse populations and in families to make the results more accurate. The goal is to better explain why some children develop clefts while others do not.
Who could benefit from this research
Good fit: Children and families with a history of orofacial clefts or children under age 11 who can provide a DNA sample and 3‑D facial images would be the best candidates.
Not a fit: People without available genetic data or 3‑D facial images, or whose clefts are primarily due to known non-genetic causes, may not benefit directly from this work.
Why it matters
Potential benefit: If successful, this could improve early risk prediction and genetic counseling for families affected by cleft lip and/or palate.
How similar studies have performed: Genetic studies have found some risk genes for clefts and polygenic risk scores work in other conditions, but combining PRS with facial morphometrics for cleft prediction is a relatively new approach.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Brand, Harrison — Massachusetts General Hospital
- Study coordinator: Brand, Harrison
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.