Finding genes that cause pituitary and hypothalamus birth defects
Discovery Pipeline for Genetic Defects in Hypothalamic-pituitary Development Using International Mouse Phenotyping Consortium Mice
['FUNDING_R01'] · UNIVERSITY OF MICHIGAN AT ANN ARBOR · NIH-11345195
Researchers are using mouse models to find genes that lead to congenital pituitary and hypothalamic problems that cause hormone deficiencies in children and adults.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MICHIGAN AT ANN ARBOR (nih funded) |
| Locations | 1 site (ANN ARBOR, UNITED STATES) |
| Trial ID | NIH-11345195 on ClinicalTrials.gov |
What this research studies
This project examines knockout mice that die before or shortly after birth and show malformations of the hypothalamus or pituitary gland to pinpoint the underlying genes. The team prioritized 18 mouse lines with clear developmental defects and will perform detailed imaging and tissue analyses to map how each genetic change alters organ formation. Genes are grouped by function (for example, epigenetic regulators or cilia components) to identify common pathways that could explain similar human birth defects. The goal is to expand the list of known genetic causes so more patients with congenital hypopituitarism can receive a molecular diagnosis.
Who could benefit from this research
Good fit: People born with congenital hypopituitarism or unexplained pituitary hormone deficiencies, especially those with midline birth defects, are the group most likely to benefit from expanded genetic findings.
Not a fit: Patients with pituitary problems from acquired causes (such as tumors, surgery, infection, or trauma) are unlikely to benefit directly from these genetic discoveries.
Why it matters
Potential benefit: If successful, this work could help more people with congenital pituitary hormone deficiencies get a genetic diagnosis to guide care and predict future risks.
How similar studies have performed: Mouse-based gene discovery has already identified many causes of congenital hypopituitarism, so this approach builds on proven methods even though many patients still lack a diagnosis.
Where this research is happening
ANN ARBOR, UNITED STATES
- 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 below.
Conditions: Anterior Pituitary Hyposecretion Syndrome