MN1 gene role in brain malformations and developmental disorders
Official title: Investigating the role of MN1 in CNS developmental malformations
Funded at Seattle Children's Hospital · NIH-11499083 · Data updated 2026-11-12
Researchers will study how MN1 mutations affect brain development to understand conditions like PMG, RES, autism, and related IDD.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Seattle Children's Hospital NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | September 1, 2026 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $516,175 |
| NIH project number | 1R21NS152673-01 |
| Project ID | NIH-11499083 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates include patients with MN1-related developmental disorders or those affected by PMG or RES in the future, who may benefit from advances in diagnosis or therapy.
✕Less likely to help
Individuals without MN1-related conditions may not directly benefit from this basic research.
What this research studies
This project compares mouse models with Mn1 null and C-terminal truncation mutations to learn how MN1 shapes brain development. By examining the cerebellum and cerebral cortex in these mice, scientists aim to uncover the developmental programs that go awry in MN1-related brain malformations. The work uses genetically engineered mice and analyzes brain structure, gene expression, and neural development processes to connect MN1 dysfunction with human neurodevelopmental disorders. Insights could inform future strategies for diagnosis or targeted therapies in conditions associated with MN1 mutations.
Why it matters
Potential benefit: Better understanding of MN1-related brain malformations could lead to earlier diagnosis and new directions for treatments or interventions for affected individuals.
How similar studies have gone: Previous mouse model studies have begun to reveal MN1's role in brain development, with some findings aligning to human neurodevelopmental phenotypes, but this specific truncation model is novel.
Where this research is happening
-
Seattle Children's Hospital
Seattle, United States Active
Researchers
- Principal investigator: Millen, Kathleen Joyce — Seattle Children's Hospital
- Study coordinator: Millen, Kathleen Joyce
Related research
Other NIH-funded projects on the same topics.
-
Enhanced surveillance to understand vaccine-preventable infections in kids
This project actively follows children in Seattle to measure how common vaccine-preventable tummy and chest infections are and how well vaccines like flu and rotavirus work.
-
UMPIRE Protocol: Preserving Kidney Function in Young Children with Spina Bifida
A pediatric kidney-preservation study aims to improve long-term kidney function in young children with spina bifida.
-
Bioengineered human brain vessels to study cerebral malaria and explore new therapies
Researchers are testing a new 3D model of human brain blood vessels to understand how cerebral malaria causes damage and to identify possible adjunctive treatments for children.
-
Inflammation-linked autophagy problems in blood cells with sickle cell disease
A scientist is studying how inflammation from TNF-alpha affects autophagy in platelets and red blood cells of people with sickle cell disease to better understand why blood clotting and cell health go awry.
-
Malaria vaccine and infection: how the body’s early and later immune responses relate to protection
Researchers are studying how people’s immune systems respond to the malaria pre-erythrocytic stage, whether after vaccination or infection, to identify which responses are linked to protection.
-
Using a simple breathing test to check lung function after kids’ acute respiratory failure
A study will test a child-friendly breathing method (oscillometry) to check how well lungs work after severe respiratory illness in kids.
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.