Fine mapping of chromosome 18 CNVs linked to birth defects and autism features
Official title: Fine Mapping and Phenotypic Association of Chromosome 18 CNVs in the Gabriela Miller Kids First Pediatrics Research Program
Funded at Pennsylvania State University, the · NIH-11453240 · Data updated 2026-11-12
A study to map chromosome 18 copy-number changes and connect them with physical birth defects and autistic traits in children.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pennsylvania State University, the NIH-funded |
| Lab location | 1 site (University Park, United States) |
| Project start | September 21, 2026 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $289,075 |
| NIH project number | 1R03HD120869-01A1 |
| Project ID | NIH-11453240 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children and adolescents with chromosome 18 CNVs, including 17p- syndrome, and related autistic features.
✕Less likely to help
Children without chromosome 18 CNVs or related phenotypes are unlikely to benefit.
What this research studies
This project will analyze genetic data and detailed clinical information from kids with chromosome 18 CNVs to find genes that drive birth defects and autism-related features. It uses advanced genome sequencing and computational methods to precisely map CNVs and link them to specific phenotypes. The goal is to identify dosage-sensitive genes and understand how these variants contribute to conditions like 17p- syndrome and ASD, which could inform future diagnostics and care.
Why it matters
Potential benefit: If successful, it could improve understanding of why certain chromosome 18 changes lead to birth defects and autism, guiding earlier diagnosis and personalized management.
How similar studies have gone: Previous work has linked CNVs to birth defects, but this study aims to refine maps and identify novel dosage-sensitive genes in chromosome 18.
Where this research is happening
-
Pennsylvania State University, the
University Park, United States Active
Researchers
- Principal investigator: Girirajan, Santhosh — Pennsylvania State University, the
- Study coordinator: Girirajan, Santhosh
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.