Understanding how our genes work to improve health
Unraveling mechanisms of genome regulation to understand and improvehuman health
This work explores how genes are controlled during development to better understand and prevent conditions like birth defects and cancer.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11142416 on NIH RePORTER |
What this research studies
Our bodies are built through precise instructions from our genes during development, and when these instructions go wrong, it can lead to health problems. This research looks at how errors in gene control during early life can cause conditions such as heart defects, facial abnormalities, or brain issues. It also explores how these early genetic changes might make someone more likely to develop diseases like cancer later on. By learning more about the hidden instructions in our genes, we hope to better predict and address these health challenges.
Who could benefit from this research
Good fit: This foundational research is relevant to children and young adults, particularly those with birth defects or a predisposition to certain cancers.
Not a fit: Patients seeking immediate new treatments or direct clinical trial participation would not directly benefit from this basic science research.
Why it matters
Potential benefit: If successful, this work could lead to new ways to predict, prevent, or treat birth defects and certain cancers by understanding their genetic origins.
How similar studies have performed: Previous work by this team and others has already shown that genetic variations linked to diseases are often found in the regulatory parts of our genes.
Where this research is happening
Philadelphia, United States
- 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
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.