How the gene regulator Gli3 influences Kallmann syndrome and normosmic hypogonadotropic hypogonadism
Official title: Understanding the role of the transcription factor Gli3 in Kallmann syndrome and normosmic forms of idiopathic hypogonadotropic hypogonadism
Funded at State University of New York at Albany · NIH-11321670 · Data updated 2026-11-12
Researchers are looking at whether changes in the gene regulator Gli3 help explain why some adults develop Kallmann syndrome or normosmic idiopathic hypogonadotropic hypogonadism.
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 start | March 12, 2019 |
| Project end | April 30, 2029 |
| Funding year | 2026 |
| Award (this year) | $331,237 |
| NIH project number | 5R01HD097331-08 |
| Project ID | NIH-11321670 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults (21+) diagnosed with Kallmann syndrome or normosmic idiopathic hypogonadotropic hypogonadism, or adults with unexplained delayed or absent puberty and related infertility, would be the most relevant candidates.
✕Less likely to help
People whose reproductive issues are due to non-hypogonadotropic causes or who need immediate clinical treatment are unlikely to get direct medical benefit from participating.
What this research studies
If you join, researchers will look for changes in the Gli3 gene in people with Kallmann syndrome or normosmic idiopathic hypogonadotropic hypogonadism and compare those findings with lab experiments. In the lab they will study how Gli3 affects the development and migration of GnRH-producing neurons and the olfactory support cells that guide them. The team combines genetic screening of patient samples with cellular and animal models to connect specific gene changes to the biological steps that go wrong. The work aims to explain how malformed development leads to delayed puberty and infertility.
Why it matters
Potential benefit: If successful, this work could help identify genetic causes of delayed puberty and point to new ways to diagnose or eventually treat infertility related to Kallmann syndrome and nIHH.
How similar studies have gone: Other genetic studies have successfully linked several genes to Kallmann syndrome and nIHH, but applying that approach specifically to Gli3 is relatively new and still emerging.
Where this research is happening
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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
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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.