Finding genetic causes of T cell deficiencies
Identification of Candidate Disease-Causing Variants
This study is looking at the genes that might cause T cell problems, like severe combined immunodeficiency (SCID), to help doctors better understand these conditions and improve how they diagnose and treat patients.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-10929325 on NIH RePORTER |
What this research studies
This research investigates the genetic basis of T cell deficiencies, such as severe combined immunodeficiency (SCID), by utilizing whole genome sequencing (WGS) to identify disease-causing variants. The study aims to enhance our understanding of T cell development and improve diagnostic methods for individuals with these disorders. By predicting genes and regulatory regions linked to T cell disorders, the research will employ CRISPR screens to validate findings and develop a comprehensive analysis pipeline for variant discovery. This approach seeks to provide a valuable resource for immunology and improve the interpretation of genomic data for affected patients.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with primary immunodeficiencies, particularly those with unexplained T cell deficits.
Not a fit: Patients with T cell deficiencies that have already been genetically characterized or those without T cell-related disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted treatments for patients with T cell deficiencies.
How similar studies have performed: Previous research utilizing whole genome sequencing has shown promise in identifying genetic variants associated with various disorders, suggesting a strong potential for success in this approach.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Brenner, Steven E — University of California, San Francisco
- Study coordinator: Brenner, Steven E
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.