Mapping genetic variations linked to autism and related conditions
A next-generation morbid map of the human genome
['FUNDING_OTHER'] · UNIVERSITY OF WASHINGTON · NIH-10892826
This study is looking at how different genes can affect traits in people with autism and similar conditions, using advanced technology to help doctors better understand and diagnose these conditions for families.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF WASHINGTON (nih funded) |
| Locations | 1 site (SEATTLE, UNITED STATES) |
| Trial ID | NIH-10892826 on ClinicalTrials.gov |
What this research studies
This research aims to create a detailed map of genetic variations associated with autism and other Mendelian conditions by utilizing next-generation sequencing (NGS) technology. It focuses on identifying how different genetic variants can lead to various phenotypes, which are the observable traits or characteristics of individuals. By employing machine learning techniques, the study will analyze large datasets to find patterns and clusters of genetic and phenotypic features, ultimately improving diagnosis and understanding of these conditions. This approach seeks to provide clearer insights into the natural history and recurrence risks for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with autism spectrum disorder or other Mendelian conditions who are seeking better understanding and management of their genetic profiles.
Not a fit: Patients with conditions unrelated to Mendelian disorders or those without a genetic component may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and personalized treatment plans for patients with autism and related genetic conditions.
How similar studies have performed: Previous research utilizing next-generation sequencing and machine learning has shown promise in identifying genetic factors associated with various conditions, suggesting a strong potential for success in this novel approach.
Where this research is happening
SEATTLE, UNITED STATES
- UNIVERSITY OF WASHINGTON — SEATTLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CHONG, JESSICA XIAO-LING — UNIVERSITY OF WASHINGTON
- Study coordinator: CHONG, JESSICA XIAO-LING
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, Developmental Delay Disorders