Genetics Behind Varied Symptoms in Complex Conditions
Genomic basis of phenotypic variability of complex disorders
This project explores how specific genetic changes, like a deletion on chromosome 16, lead to different symptoms in children and families affected by conditions like developmental delay and autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pennsylvania State University, the NIH-funded |
| Lab location | 1 site (University Park, United States) |
| Project ID | NIH-11091490 on NIH RePORTER |
What this research studies
Many complex health conditions, like developmental delays and autism, can look very different from person to person, even within the same family. This project focuses on a specific genetic change, a deletion on chromosome 16p12.1, to understand why these differences occur. Researchers believe that other genetic variations, often called 'second hits,' work together with this deletion to shape a person's unique symptoms. The goal is to discover how these specific combinations of genetic changes lead to distinct health outcomes. In earlier work, the team analyzed genetic information and health characteristics from many families with this deletion to uncover these patterns.
Who could benefit from this research
Good fit: This research is relevant for families and children affected by developmental delay, autism, or other neuropsychiatric conditions, especially those with a known 16p12.1 genetic deletion.
Not a fit: Patients whose conditions are not related to the 16p12.1 deletion or similar complex genetic interactions may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could help us better predict the specific challenges a child might face based on their unique genetic makeup, leading to more personalized support and care.
How similar studies have performed: This project builds upon previous successful research that analyzed genetic and health information from numerous families with the 16p12.1 deletion.
Where this research is happening
University Park, United States
- 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 below.