Finding autism genes that shape core autism traits
2/4 The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorder
This project is finding gene changes linked to autism to learn how they affect core autism features in people with ASD.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Broad Institute, INC. NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project ID | NIH-11258863 on NIH RePORTER |
What this research studies
You would be part of a large international effort that analyzes DNA from tens of thousands of people with autism, their family members, and comparison groups to find rare genetic changes (like single-letter changes, small insertions/deletions, and copy number changes). Researchers will pay special attention to inherited variants, X-linked changes, and missense substitutions that have been hard to interpret before. The team combines data across autism families, other developmental or psychiatric diagnoses, and population samples to spot which genes are reliably connected to autism and which change core autism features versus broader development. Results aim to map biological pathways and point to how specific genes lead to particular autism traits.
Who could benefit from this research
Good fit: People with autism spectrum disorder and their family members (including parents and siblings), as well as individuals with related developmental or psychiatric conditions, are the most relevant participants for the data and samples used in this research.
Not a fit: People whose autism is driven mainly by non-genetic factors or who need immediate clinical treatments may not see direct short-term benefits from this genetic discovery work.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis, clarify causes of different autism features, and point to targets for future treatments tailored to specific genetic changes.
How similar studies have performed: Large sequencing consortia have already identified many autism risk genes, and this project builds on that success by greatly increasing sample size and focusing on inherited and missense variants that remain less understood.
Where this research is happening
Cambridge, United States
- Broad Institute, INC. — Cambridge, United States (Active)
Researchers
- Principal investigator: Daly, Mark Joseph — Broad Institute, INC.
- Study coordinator: Daly, Mark Joseph
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.