Gene dosage and brain disorders: how genetic changes shape autism, bipolar disorder, and related conditions
Official title: Gene Dosage Imbalance in Neurodevelopmental Disorders
Funded at Geisinger Clinic · NIH-11239795 · Data updated 2026-11-12
Researchers will study how different genetic changes influence brain-related conditions like autism and bipolar disorder using large patient data to understand why these disorders overlap and co-occur.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Geisinger Clinic NIH-funded |
| Lab location | 1 site (Danville, United States) |
| Project start | March 15, 2005 |
| Project end | December 31, 2026 |
| Funding year | 2026 |
| Award (this year) | $775,096 |
| NIH project number | 5R01MH074090-20 |
| Project ID | NIH-11239795 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with developmental brain disorders or related neuropsychiatric conditions who have genomic data linked to their health records in the DiscovEHR-Geisinger resource.
✕Less likely to help
Some participants may not experience direct medical benefit if their genetic findings do not translate into actionable clinical information.
What this research studies
This project uses a genomics-first approach linked to electronic health records to examine how a broad range of genomic variants affect people with developmental brain disorders. It focuses especially on copy number variants of intermediate effect size, a relatively unexplored area, to see how these variants contribute to autism, schizophrenia, and related medical and behavioral features. By analyzing exome sequences, SNP genotypes, and long-term health data from over 260,000 participants in Geisinger’s DiscovEHR program, the study aims to map how different genetic risks combine to shape clinical outcomes. The findings could help explain why patients with similar diagnoses have different symptoms and medical complications and may point toward more personalized care in the future.
Why it matters
Potential benefit: Understanding genetic influences on developmental brain disorders could lead to better personalized risk assessment and tailored interventions.
How similar studies have gone: Previous genomics-first approaches using large EHR-linked cohorts have shown promise in clarifying complex genetic contributions to brain disorders.
Where this research is happening
-
Geisinger Clinic
Danville, United States Active
Researchers
- Principal investigator: Martin, Christa Lese — Geisinger Clinic
- Study coordinator: Martin, Christa Lese
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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.