Callosal agenesis and its links to autism and other neurodevelopmental disorders
ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
This project searches for genetic causes of missing or underdeveloped corpus callosum in people with autism, intellectual disability, epilepsy and related conditions by sequencing families and testing genes in lab models.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11092302 on NIH RePORTER |
What this research studies
If my child or I have agenesis of the corpus callosum (ACC), the team will recruit families and collect clinical information and DNA from affected individuals and their parents to do whole-exome sequencing on more than 1,000 trios and analyze data from over 2,000 additional trios from commercial labs. The researchers will prioritize likely disease genes and study them in laboratory and animal models to see how they affect corpus callosum development. Their work aims to validate new ACC genes and connect genetic findings to autism and other neurodevelopmental conditions to improve understanding and future care.
Who could benefit from this research
Good fit: Ideal participants are people with agenesis of the corpus callosum or related neurodevelopmental disorders and their parents who can provide clinical information and DNA samples.
Not a fit: People without ACC or unrelated conditions, or those unable to provide samples or medical records, are unlikely to receive direct benefit from participating.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis and counseling for people with ACC and point toward new targets for treatments.
How similar studies have performed: Earlier whole-exome efforts, including by this team that identified about 70 candidate ACC genes, have already shown success and this project builds on that progress.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Argilli, Emanuela — University of California, San Francisco
- Study coordinator: Argilli, Emanuela
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.