Understanding how certain genetic mutations cause acne and related skin conditions
Leveraging mosaic genodermatoses to discover genetic and molecular mechanisms of comedogenesis
This study is looking into how certain genes, especially the NEK9 gene, might cause clogged pores that lead to acne, and it hopes to find new ways to treat acne and similar skin issues that could help people like you.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11062347 on NIH RePORTER |
What this research studies
This research investigates the genetic and molecular mechanisms behind the formation of comedones, which are the clogged pores often associated with acne vulgaris. By studying mutations in the NEK9 gene, the research aims to uncover how these genetic changes contribute to comedogenesis, the process that leads to the development of comedones. The team utilizes both laboratory models and clinical data to explore the role of primary cilia in hair follicle development and maintenance. Patients may benefit from insights that could lead to new treatments for acne and related skin disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with acne vulgaris or rare skin conditions characterized by comedones, particularly those with a family history of such conditions.
Not a fit: Patients with skin conditions unrelated to comedogenesis or those who do not have a genetic predisposition to acne may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to innovative therapies for acne and other skin conditions caused by comedogenesis.
How similar studies have performed: Previous research has shown promising results in understanding genetic factors in skin conditions, suggesting that this approach could yield valuable insights.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Ellis, Katharine Taylor — Yale University
- Study coordinator: Ellis, Katharine Taylor
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.