Understanding how rare genetic changes affect brain and risk for neurodevelopmental disorders
Official title: Understanding Rare Genetic Variation and Disease Risk: A Global Neurogenetics Initiative
Funded at Sainte-Justine University Hospital Ctr · NIH-11555337 · Data updated 2026-11-12
A large study will look at people with specific rare genetic changes to see how these affect brain structure, brain activity, and behavior, with the goal of linking genetic variants to ADHD, autism, and other brain disorders.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Sainte-Justine University Hospital Ctr NIH-funded |
| Lab location | 1 site (Montreal, Canada) |
| Project start | June 7, 2023 |
| Project end | April 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $42,293 |
| NIH project number | 3R01MH129858-04S1 |
| Project ID | NIH-11555337 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with or without neurodevelopmental disorders who have or carry CNVs of interest or who contribute data through existing cohorts.
✕Less likely to help
Participants without relevant CNVs or brain imaging data may not directly benefit from this study.
What this research studies
This project will combine neuroimaging data and genetic information from thousands of participants to map how CNVs influence brain architecture and behavior. Using a standardized processing pipeline across multiple international sites, researchers will examine structural MRI, diffusion MRI, and functional connectivity to understand how CNVs relate to neurodevelopmental psychiatric disorders. The findings could reveal how common genetic variation interacts with these CNVs to shape disease risk and helps inform future treatments. The study leverages existing cohorts, aiming to create one of the largest neuroimaging genomic datasets to date.
Why it matters
Potential benefit: Better understanding of how rare genetic changes influence brain development could guide personalized risk assessment and future therapies for ADHD and autism.
How similar studies have gone: Previous work shows that combining imaging and genetics can reveal brain changes associated with CNVs, though this project scales up to an unprecedented dataset.
Where this research is happening
-
Sainte-Justine University Hospital Ctr
Montreal, Canada Active
Researchers
- Principal investigator: Jacquemont, Sebastien — Sainte-Justine University Hospital Ctr
- Study coordinator: Jacquemont, Sebastien
Related research
Other NIH-funded projects on the same topics.
-
Understanding Rare Genetic Variations and Brain Health Across ADHD and Autism
Researchers will study how rare genetic changes affect brain structure and function in people with neurodevelopmental conditions like ADHD and autism, using a large international dataset.
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Exploring how rare genetic variations affect brain structure and mental health risks.
This study is looking at how certain genetic changes might affect brain development and behavior in people with neurodevelopmental psychiatric disorders, and it's for anyone interested in understanding the links between genetics and mental health.
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Understanding how genetic variations affect behavior in neuropsychiatric disorders.
This study is looking at how certain genetic changes might affect behaviors related to mental health issues like anxiety and attention disorders, and it's designed for people with known genetic conditions to help us better understand the link between genes and mental health.
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.