Investigating genetic causes of hormone deficiencies related to brain development
Official title: Discovery Pipeline for Genetic Defects in Hypothalamic-pituitary Development Using International Mouse Phenotyping Consortium Mice
Funded at University of Michigan at Ann Arbor · NIH-11099706 · Data updated 2026-11-12
This study is looking at congenital hypopituitarism, a condition that affects hormone production from birth, by examining specially modified mice to find out which genes are involved, with the hope of improving diagnosis and treatment for people with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | May 23, 2023 |
| Project end | April 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $638,790 |
| NIH project number | 5R01HD108156-03 |
| Project ID | NIH-11099706 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with congenital hypopituitarism or those with unexplained hormone deficiencies linked to developmental issues.
✕Less likely to help
Patients with hormone deficiencies not related to genetic defects in hypothalamic or pituitary development may not benefit from this research.
What this research studies
This research focuses on congenital hypopituitarism, a birth defect that affects hormone production due to developmental issues in the hypothalamus and pituitary gland. By studying genetically modified mice with known defects, researchers aim to identify the genes responsible for these conditions and improve molecular diagnoses for affected individuals. The approach involves detailed phenotyping of mouse models to understand the genetic underpinnings of these disorders, which could lead to better treatment planning and risk assessment for patients. The findings may also enhance our understanding of how these critical brain structures develop.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with congenital hypopituitarism and related conditions.
How similar studies have gone: Previous research has successfully identified genetic causes of similar developmental disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Camper, Sally a. — University of Michigan at Ann Arbor
- Study coordinator: Camper, Sally a.
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.