Understanding how genetic changes affect development in autism and heart/placental cells
Official title: Multiscale functional characterization of genomic variation in human developmental disorders
Funded at Ut Southwestern Medical Center · NIH-11514250 · Data updated 2026-11-12
A large project will map how genetic variants linked to developmental disorders influence cell behavior in heart, brain, and placenta-related cells to better understand autism and related 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 start | June 1, 2026 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $1,748,385 |
| NIH project number | 3UM1HG011996-05S1 |
| Project ID | NIH-11514250 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with autism spectrum disorder or congenital heart defects who carry known genetic variants related to developmental development.
✕Less likely to help
Families or individuals without known relevant genetic variants may not directly benefit from this research.
What this research studies
This project creates a scalable platform to study how disease-associated genetic elements change function in human heart cells, neurons, and placental cells. Researchers will catalog molecular and cellular effects of variants and develop a high-throughput method to perturb these elements. The goal is to connect specific genetic changes with how cells develop and contribute to autism and congenital heart issues. The work aims to build a framework that could explain why certain variants lead to developmental disorders. Expect collaboration across sharing data and validating findings in human-derived cell systems.
Why it matters
Potential benefit: If successful, patients could benefit from more precise genetic understanding that informs diagnosis, prognosis, and potential future therapies for developmental disorders.
How similar studies have gone: Prior studies show that mapping variant effects can reveal mechanisms of disease; this project expands to a broader set of elements and cell types.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Hon, Gary Chung — Ut Southwestern Medical Center
- Study coordinator: Hon, Gary Chung
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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.