Family genetics linking autism and fragile X syndrome

A Family Genetic Study of Autism and Fragile X Syndrome

NIH-funded research Northwestern University · NIH-11403972

The team looks at whether changes in the FMR1 gene are linked to social language difficulties in people with autism, fragile X syndrome, and their family members.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionNorthwestern University NIH-funded
Lab location1 site (Chicago, United States)
Project IDNIH-11403972 on NIH RePORTER

What this research studies

You and family members could take part in detailed language and social communication tests and brain-based measurements to look for patterns tied to genes. The team compares people with fragile X syndrome, carriers of the FMR1 premutation, individuals with autism, and first-degree relatives to find shared or distinct pragmatic language features. Researchers apply deep behavioral and neural phenotyping plus advanced computer/AI analyses to connect genetic variation to specific social-communication skills. Findings aim to clarify how FMR1-related biology contributes to everyday language and social challenges.

Who could benefit from this research

Good fit: Ideal candidates include individuals with fragile X syndrome, people who carry the FMR1 premutation (often family members), people with autism spectrum disorder, and their first-degree relatives, including children.

Not a fit: People without autism, fragile X, or family ties to someone with these conditions are unlikely to directly benefit from participating.

Why it matters

Potential benefit: If successful, this work could point to genetic and brain-based markers that support earlier diagnosis and more personalized communication supports for people with autism or fragile X.

How similar studies have performed: Previous work from this group found parallels in pragmatic language between the broad autism phenotype and FMR1 premutation carriers, while the combined deep behavioral, neural, and AI-driven approach is relatively novel.

Where this research is happening

Chicago, United States

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.
Conditions Autistic DisorderCandidate Disease Gene
Last reviewed 2026-06-10 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.