How brains and behavior change in teens and young adults with 22q11.2 deletion
1/2: Neurodevelopmental Trajectories in 22q11.2 Deletion Syndrome in Adolescence and Young Adulthood
This project follows adolescents and young adults with a confirmed 22q11.2 deletion to learn how thinking, behavior, and mental health change over time.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11243513 on NIH RePORTER |
What this research studies
If you or your child has a 22q11.2 deletion, researchers at the University of Pennsylvania and CHOP will follow participants through adolescence and emerging adulthood using brain scans, cognitive testing, medical reviews, and questionnaires about life experiences. The team uses an accelerated longitudinal design that combines people at different ages to map developmental changes more quickly than a single-cohort study. They will collect genetic and environmental exposure information and measure medical burden to see how these factors interact with the deletion. Findings aim to identify patterns that could point to early warning signs or targets for future interventions.
Who could benefit from this research
Good fit: Ideal candidates are children, adolescents, and young adults (roughly ages 10–25) with a confirmed 22q11.2 deletion who can attend repeated study visits and testing.
Not a fit: People without a confirmed 22q11.2 deletion or those unable to travel for in-person visits and repeated assessments are unlikely to receive direct benefit from participation.
Why it matters
Potential benefit: Could help identify early signs, risk factors, and targets for monitoring or interventions for people with 22q11.2 deletion.
How similar studies have performed: Previous research has linked 22q11.2 deletion to higher risk of ADHD, anxiety, ASD traits, and psychosis, but this multi-site accelerated longitudinal phenomics/genomics approach is relatively novel.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Gur, Raquel E — University of Pennsylvania
- Study coordinator: Gur, Raquel E
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.