Finding and improving genetic tests to spot autism risk in newborns
Project 1: Identifying and optimizing monogenetic risk prediction for autism in newborns
This project sequences newborns' genomes to find inherited gene changes that raise a baby's chance of developing autism so families and clinicians can consider earlier monitoring and support.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11176980 on NIH RePORTER |
What this research studies
From my perspective as a parent, the team will sequence newborns' DNA to identify specific monogenic variants linked to autism risk. They will use data from a diverse newborn-screening pilot (GUARDIAN) and other sources to estimate how strongly each variant predicts later autism and which additional genetic or other factors change that risk. The researchers will develop better risk models to decide which babies might benefit from closer follow-up or early behavioral supports. Their work will also inform which genetic findings should be returned to families during newborn screening.
Who could benefit from this research
Good fit: Newborns (within the first weeks of life) whose parents consent to genomic sequencing at participating hospitals, especially within the participating New York City sites, are ideal candidates.
Not a fit: Babies without identifiable monogenic risk variants, older children or adults, and families outside the participating sites may not directly benefit from this project.
Why it matters
Potential benefit: If successful, this could allow earlier identification of infants at high genetic risk for autism so monitoring and early interventions can begin before symptoms appear.
How similar studies have performed: Other newborn sequencing pilots exist and some single-gene changes are known to increase autism risk, but using genetics alone to predict which infants will develop autism remains largely unproven.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Chung, Wendy K — Columbia University Health Sciences
- Study coordinator: Chung, Wendy K
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.