Finding genes linked to intellectual disability in families from Africa, Asia, and Europe
Official title: Elucidating the Genetic Etiology of Intellectual Disability in African, Asian, and European Families
Funded at Columbia University Health Sciences · NIH-11164594 · Data updated 2026-11-12
This project looks for genetic changes that may cause intellectual disability by sequencing DNA from affected adults and their family members from African, Asian, and European backgrounds.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | August 14, 2023 |
| Project end | July 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $630,071 |
| NIH project number | 5R01HD109342-03 |
| Project ID | NIH-11164594 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults (21+) with intellectual disability and their family members from the enrolled populations (Finland, Hungary including Romani and Magyar groups, Mali, and Pakistan) who do not have Fragile X or a known environmental cause are ideal candidates.
✕Less likely to help
People whose intellectual disability is already explained by a known Fragile X expansion or by clear environmental causes will be excluded and are unlikely to benefit from this project.
What this research studies
Researchers will enroll about 500 families from Finland, Hungary (Romani and Magyar populations), Mali, and Pakistan and collect DNA from affected adults and their relatives. They will focus on trios (an affected person and both parents) and extended families, including those with consanguinity, while excluding cases with Fragile X or clear environmental causes. Teams will perform next-generation sequencing and use bioinformatics tools to flag rare, damaging variants and check whether those variants track with disability across family members. Promising candidate variants will be validated in the lab and tested for inheritance patterns within the families.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis, counseling, and pave the way for future targeted treatments for people with intellectual disability.
How similar studies have gone: Previous large-scale sequencing studies have already identified over 1,000 genes for intellectual disability, so this gene-discovery approach has a strong track record but continues to seek genes that remain undiscovered.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Leal, Suzanne M — Columbia University Health Sciences
- Study coordinator: Leal, Suzanne M
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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.