Finding genes and pathways behind lissencephaly (smooth brain)
A Gene-Network Discovery Approach to Structural Brain Disorders
Researchers will use patient skin cells and laboratory models to find genes and networks that cause lissencephaly in people with this developmental brain condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11128731 on NIH RePORTER |
What this research studies
You or your child's skin cells would be turned into induced pluripotent stem cells and grown into 2D neural cells and 3D brain organoids so scientists can watch how genes affect brain development. The team will also use embryonic mouse models to study the PIDDosome protein complex and how its malfunction may lead to smooth brain formation. They will analyze genetic data from many patients to find new candidate genes and gene networks, then test those candidates in their cell and organoid models. This combines computer-based gene-network analyses with hands-on lab experiments to link genetic changes to cellular and tissue effects.
Who could benefit from this research
Good fit: People with lissencephaly—or parents of affected children—especially those without a known genetic diagnosis and willing to provide medical records and a skin or blood sample, would be ideal candidates.
Not a fit: People without lissencephaly or whose condition already has a clear genetic diagnosis are unlikely to directly benefit from participating.
Why it matters
Potential benefit: If successful, this work could increase the number of families who receive a genetic diagnosis and point to biological pathways that might be targeted for future therapies.
How similar studies have performed: Previous gene-discovery studies and patient-derived organoid models have identified many lissencephaly genes, so this work builds on established methods while adding novel gene-network analyses and a focus on the PIDDosome.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Louvi, Angeliki — Yale University
- Study coordinator: Louvi, Angeliki
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.