Understanding Rare Genetic Changes in Autism
Rare Mutations and Autism Spectrum Disorders
This project aims to find new genetic changes that contribute to autism by looking closely at the DNA of many families affected by the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-10974033 on NIH RePORTER |
What this research studies
We are looking for tiny, often overlooked genetic differences, called rare variants, in the DNA of children with autism and their families. By using advanced sequencing technologies, we hope to uncover smaller and more complex genetic changes that might explain why autism develops in some children. We will also carefully examine 100 cases where the cause of autism is still unknown, using a newer, more detailed DNA sequencing method. Our goal is to identify specific genes that play a role in autism, which could lead to a better understanding of the condition.
Who could benefit from this research
Good fit: This research focuses on genetic data from children with autism, particularly those between 0 and 21 years old, and their families.
Not a fit: Patients whose autism is not linked to the specific rare genetic mutations being studied may not directly benefit from this particular genetic discovery.
Why it matters
Potential benefit: If successful, this work could help us better understand the genetic causes of autism, potentially leading to earlier diagnosis and more personalized support for affected children and families.
How similar studies have performed: While some genetic factors in autism are known, this project uses novel methods to uncover understudied classes of rare genetic variations, representing a new approach to understanding the condition.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Eichler, Evan — University of Washington
- Study coordinator: Eichler, Evan
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.