Improving genetic diagnosis and treatment for immune disorders using advanced bioinformatics.
Bioinformatics and computational biology core
This study is all about using advanced computer techniques to better understand genetic information for people with immune system disorders, helping doctors find the right treatments for each patient.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project ID | NIH-11010136 on NIH RePORTER |
What this research studies
This research focuses on utilizing advanced bioinformatics and computational biology techniques to analyze next-generation sequencing (NGS) data, which includes various sequencing methods like whole exome and genome sequencing. By establishing a dedicated core for bioinformatics, the project aims to enhance the interpretation of complex genetic data, particularly for patients with inborn errors of immunity (IEI). The core will provide extensive annotations and computational predictions to identify pathogenic variants, ultimately aiding in the development of targeted therapies for individual patients. This approach seeks to streamline the workflow for genetic diagnosis and improve precision medicine outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with inborn errors of immunity who require genetic testing for targeted therapies.
Not a fit: Patients with immune disorders that do not have a genetic basis or those not requiring genetic testing may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate genetic diagnoses and personalized treatment options for patients with immune disorders.
How similar studies have performed: Previous research has shown success in utilizing bioinformatics for genetic analysis, particularly in improving diagnosis and treatment strategies for various genetic conditions.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Itan, Yuval — Washington University
- Study coordinator: Itan, Yuval
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.