Finding genes that shape core autism traits

4/4 - The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorder

['FUNDING_R01'] · UNIVERSITY OF OXFORD · NIH-11303271

This project looks for genes that increase the chance of autism and explains how those genes change core autism traits in autistic people and their families.

Quick facts

Phase['FUNDING_R01']
Study typeNih_funding
SexAll
SponsorUNIVERSITY OF OXFORD (nih funded)
Locations1 site (OXFORD, UNITED KINGDOM)
Trial IDNIH-11303271 on ClinicalTrials.gov

What this research studies

Researchers are analyzing DNA from tens of thousands of people — including autistic individuals, their family members, people with other developmental or psychiatric conditions, and people from population studies — to find rare genetic changes linked to autism. They focus on rare single-letter DNA changes, small insertions/deletions, copy number changes, inherited and X-linked variants, and specific missense mutations. The team builds on prior work that identified about 185 autism-associated genes and aims to double the number of known genes and learn which genes specifically affect core autism features. Much of the work combines existing sequencing data across international sites to increase the power to detect meaningful genetic signals.

Who could benefit from this research

Good fit: Ideal candidates are autistic people and their family members, or people with related developmental or neuropsychiatric conditions who can provide genetic samples or allow access to sequencing data.

Not a fit: People looking for immediate changes in clinical care or whose autism has no identifiable genetic component may not see direct short-term benefits.

Why it matters

Potential benefit: If successful, this work could make genetic testing more informative and point to biological targets that support better diagnosis, counseling, and future tailored treatments.

How similar studies have performed: Yes — earlier large-scale sequencing by the Autism Sequencing Consortium has already discovered many autism risk genes, demonstrating this approach can work.

Where this research is happening

OXFORD, UNITED KINGDOM

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.

View on NIH RePORTER →

Conditions: Autistic Disorder, Brain Diseases

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.