Investigating genetic causes of immune system disorders
Human Participants and Sequencing
This study is looking at genetic issues that affect the immune system, especially in people with low T cells or severe combined immunodeficiency (SCID), to help create personalized treatments, and it involves both patients and their parents to gather important information.
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-10929324 on NIH RePORTER |
What this research studies
This research focuses on understanding genetic primary immunodeficiencies, particularly those affecting T lymphocytes, by utilizing advanced techniques such as deep sequencing and gene editing. Patients with unexplained T cell insufficiency or severe combined immunodeficiency (SCID) will be enrolled to provide samples and clinical data. The goal is to develop personalized treatments based on the genetic insights gained from these patients. Parents of affected individuals will also be included in the study to enhance understanding of these conditions.
Who could benefit from this research
Good fit: Ideal candidates include individuals diagnosed with T cell insufficiency or SCID, particularly those with unproven genetic diagnoses.
Not a fit: Patients with well-defined genetic causes of their immune deficiencies may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to personalized therapies for patients with severe immune deficiencies.
How similar studies have performed: Previous research has shown promise in using genomic approaches to understand and treat genetic immunodeficiencies, indicating that this approach could be effective.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Puck, Jennifer M. — University of California, San Francisco
- Study coordinator: Puck, Jennifer M.
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.