Understanding the genetic factors behind craniofacial abnormalities
Official title: Functional characterization of craniofacial enhancers at single cell and single base pair resolution
Funded at Children's Hosp of Philadelphia · NIH-11091751 · Data updated 2026-11-12
This study is looking at how genes and their control can lead to facial birth defects in kids, using advanced techniques to better understand the early development of these conditions, which could help find new ways to treat them.
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 start | July 1, 2024 |
| Project end | April 30, 2026 |
| Funding year | 2023 |
| Award (this year) | $254,563 |
| NIH project number | 7R01DE028945-06 |
| Project ID | NIH-11091751 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children born with craniofacial abnormalities or those at risk of developing such conditions.
✕Less likely to help
Patients with craniofacial abnormalities that are solely due to known genetic mutations without regulatory involvement may not benefit from this research.
What this research studies
This research investigates the genetic and regulatory elements that contribute to craniofacial abnormalities, which are common birth defects affecting many children. By analyzing human craniofacial tissue and using advanced single-cell techniques, the study aims to identify specific cell types and their regulatory functions during early development. The researchers will focus on understanding how gene regulation, rather than just genetic mutations, plays a role in these conditions. This approach could lead to better insights into the causes of craniofacial defects and potential therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to improved prevention and treatment strategies for craniofacial abnormalities in children.
How similar studies have gone: Previous research has shown promise in understanding genetic regulation in other birth defects, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Cotney, Justin Lee — Children's Hosp of Philadelphia
- Study coordinator: Cotney, Justin Lee
Related research
Other NIH-funded projects on the same topics.
-
Emotional and biobehavioral links in parent-infant closeness
A program to understand how parent and baby feel and react to each other in early life, with the goal of guiding better child social and emotional development.
-
Leukodystrophy Clinical Careers and Mentorship Network
A program to train, mentor, and support clinicians and researchers to advance care for people with leukodystrophies.
-
Role of ATP1A3 mutations in sudden death related to epilepsy
Aims to understand how ATP1A3 gene changes may lead to sudden death in kids with epilepsy and is exploring new ways to prevent it.
-
Kids First Data Resource Center: cloud-enabled data sharing for childhood cancer research
A data resource project that makes pediatric cancer data and analyses more accessible to researchers, with the goal of advancing understanding and care for children with cancer.
-
PROMISE: A Network for Real-World Evidence in Rare Pediatric Cancers
A network will collect and harmonize pediatric cancer patient records from multiple centers to create high-quality real-world data that can support quicker, regulatory-ready insights when randomized trials aren’t feasible.
-
Data Hub Core for Down syndrome research
A data hub project is building a big, interoperable platform to securely share and analyze information from people with Down syndrome and related conditions.
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.