Understanding T cell defects and developing personalized treatments
Functional Analysis of Variants Underlying T Cell Defects
['FUNDING_P01'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-10929331
This study is looking for specific genetic changes that lead to T cell problems in babies with severe combined immunodeficiency (SCID), using advanced DNA techniques to help find new treatments that could improve their immune systems.
Quick facts
| Phase | ['FUNDING_P01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN FRANCISCO (nih funded) |
| Locations | 1 site (SAN FRANCISCO, UNITED STATES) |
| Trial ID | NIH-10929331 on ClinicalTrials.gov |
What this research studies
This research focuses on identifying genetic variants that cause T cell deficiencies, particularly in patients with severe combined immunodeficiency (SCID). By utilizing advanced genomic techniques like whole exome and genome sequencing, the team aims to pinpoint disease-causing variants discovered through newborn screening. The project also employs CRISPR technology to explore gene functions critical for T cell development, ultimately aiming to create a comprehensive model of human T cell development. This work could lead to personalized genome editing therapies for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include newborns diagnosed with severe combined immunodeficiency or individuals with unexplained T cell deficiencies.
Not a fit: Patients with T cell deficiencies caused by non-genetic factors or those who do not have SCID may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to personalized treatments for patients with T cell deficiencies, improving their immune function and overall health.
How similar studies have performed: Previous research has successfully identified novel genes associated with SCID and utilized similar genomic approaches, indicating a promising avenue for further exploration.
Where this research is happening
SAN FRANCISCO, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN FRANCISCO — SAN FRANCISCO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WIEST, DAVID L. — UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- Study coordinator: WIEST, DAVID L.
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.