Exploring how a specific protein affects puberty and fertility in certain genetic conditions
Understanding the role of the transcription factor Gli3 in Kallmann syndrome and normosmic forms of idiopathic hypogonadotropic hypogonadism
This study is looking at how a specific protein called Gli3 affects Kallmann syndrome and a related condition that can cause delayed puberty and infertility, with the goal of understanding how important brain cells develop and move during pregnancy, which could help find better treatments for these issues.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University of New York at Albany NIH-funded |
| Lab location | 1 site (Albany, United States) |
| Project ID | NIH-11143167 on NIH RePORTER |
What this research studies
This research investigates the role of the Gli3 transcription factor in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism, conditions that can lead to delayed puberty and infertility. The study focuses on understanding how neurons that produce gonadotropin-releasing hormone develop and migrate during embryonic growth, which is crucial for normal sexual maturation. By examining human patients, the research aims to uncover the cellular and molecular mechanisms that contribute to these conditions, potentially leading to new insights into treatment options.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Kallmann syndrome or normosmic idiopathic hypogonadotropic hypogonadism.
Not a fit: Patients who do not have Kallmann syndrome or normosmic idiopathic hypogonadotropic hypogonadism may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide new understanding and potential treatments for individuals experiencing delayed puberty and infertility due to these genetic conditions.
How similar studies have performed: While the specific focus on Gli3 in these conditions may be novel, previous research has successfully identified genetic factors involved in similar developmental processes.
Where this research is happening
Albany, United States
- State University of New York at Albany — Albany, United States (Active)
Researchers
- Principal investigator: Forni, Paolo E — State University of New York at Albany
- Study coordinator: Forni, Paolo E
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.