Finding genes that increase autism risk and shape core autism traits
3/4 The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorder
['FUNDING_R01'] · CARNEGIE-MELLON UNIVERSITY · NIH-11247567
This project looks for genes that raise autism risk and shows how those genes relate to core autism traits in people with autism and their families.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CARNEGIE-MELLON UNIVERSITY (nih funded) |
| Locations | 1 site (PITTSBURGH, UNITED STATES) |
| Trial ID | NIH-11247567 on ClinicalTrials.gov |
What this research studies
As someone affected by autism, you should know researchers are combining DNA data from more than 70,000 people — including people with autism, their family members, people with other developmental or psychiatric conditions, and large population samples — to find rare genetic changes linked to autism. They will analyze single-letter changes, small insertions/deletions, and larger copy-number changes, with special focus on inherited variants (including X-linked) and missense substitutions that have been harder to interpret. By comparing patterns across these groups, the team aims to identify genes that specifically influence the core features of autism versus broader developmental problems. This work mainly analyzes existing genetic and clinical data and does not provide a clinical treatment, so any personal follow-up would require separate genetic counseling or testing.
Who could benefit from this research
Good fit: Ideal participants are individuals with autism and their family members who can share genetic data or clinical records, or people who already have DNA sequencing data to contribute.
Not a fit: People seeking immediate new treatments, those without genetic data to share, or individuals without an autism diagnosis are unlikely to receive direct personal benefit from this project.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis and help guide development of more targeted supports or treatments for different genetic forms of autism.
How similar studies have performed: Large-scale sequencing efforts, including previous work by the Autism Sequencing Consortium, have already identified many autism-linked genes, and this project builds on those successful approaches while expanding into under-studied inherited and missense variants.
Where this research is happening
PITTSBURGH, UNITED STATES
- CARNEGIE-MELLON UNIVERSITY — PITTSBURGH, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ROEDER, KATHRYN M — CARNEGIE-MELLON UNIVERSITY
- Study coordinator: ROEDER, KATHRYN M
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.
Conditions: Autistic Disorder, Brain Diseases