How genetic differences affect development and autism
Multiscale functional characterization of genomic variation in human developmental disorders
This project is mapping how genetic changes linked to developmental disorders, including autism, affect cells in the brain, heart, and placenta to guide future diagnosis and treatments for people with these conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project ID | NIH-11124756 on NIH RePORTER |
What this research studies
If you or a family member have autism or another developmental condition, this project aims to learn how specific genetic changes change cell behavior during human development. The team will use large genetic datasets and human-derived cells to test thousands of regulatory DNA elements and their variants with high-throughput laboratory perturbations. They focus on the cell types most relevant to each condition — neurons for autism, cardiomyocytes for congenital heart defects, and placental tissue for developmental outcomes — and will catalog molecular and cellular outcomes. The goal is to create a public resource linking variants to measurable cellular effects that researchers and clinicians can use down the line.
Who could benefit from this research
Good fit: People with autism or other developmental disorders, especially adults willing to provide genetic information or biological samples, would be the most relevant candidates to contribute to or benefit from this research.
Not a fit: Patients seeking immediate symptom relief or an available treatment change are unlikely to receive direct clinical benefit from this basic and translational research in the short term.
Why it matters
Potential benefit: If successful, the work could reveal which genetic changes truly alter cell function and point to better diagnostic markers or targets for future therapies.
How similar studies have performed: Prior functional genomics studies have shown that lab-based tests can reveal effects of some disease-linked variants, but this large-scale, multiscale center approach to systematically catalog enhancers is relatively new.
Where this research is happening
Dallas, United States
- Ut Southwestern Medical Center — Dallas, United States (Active)
Researchers
- Principal investigator: Hon, Gary Chung — Ut Southwestern Medical Center
- Study coordinator: Hon, Gary Chung
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.