Lab-grown thymus cells to help T cell problems in CHARGE syndrome
Official title: Modeling and treating T cell immunodeficiency in CHARGE syndrome by ESC- and iPSC-derived thymic epithelial cells
Funded at University of Connecticut Storrs · NIH-11283956 · Data updated 2026-11-12
Researchers are growing thymus-supporting cells from stem cells to help people with CHARGE syndrome who have low T cell counts.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Storrs NIH-funded |
| Lab location | 1 site (Storrs-Mansfield, United States) |
| Project start | February 1, 2023 |
| Project end | January 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $446,103 |
| NIH project number | 5R01AI175087-04 |
| Project ID | NIH-11283956 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates would be individuals with genetically confirmed CHARGE syndrome and evidence of T cell immunodeficiency, or those willing to provide cells or clinical data for research.
✕Less likely to help
People without CHARGE syndrome or whose immune problems come from causes unrelated to thymic development are unlikely to benefit directly from this project.
What this research studies
If you or your child has CHARGE syndrome, this project uses embryonic and patient-derived induced pluripotent stem cells to create thymic epithelial cells in the lab so scientists can see how CHD7 genetic changes harm thymus development. The team will compare cells with and without CHD7 defects, attempt to correct or bypass those defects, and test whether the lab-made cells can form normal thymus tissue and support T cell growth. They will transplant these cells into animal models to see if they recreate thymic architecture and restore immune function. The goal is to learn whether this approach could become a future way to restore immunity for people with CHARGE-related T cell deficiency.
Why it matters
Potential benefit: If successful, this work could point toward cell-based therapies that restore thymus function and improve T-cell immunity in people with CHARGE syndrome.
How similar studies have gone: Previous preclinical work has shown stem cell–derived thymic epithelial progenitors can form thymus-like tissue and support T cell development in mice, but applying this specifically to CHD7-related CHARGE syndrome is new.
Where this research is happening
-
University of Connecticut Storrs
Storrs-Mansfield, United States Active
Researchers
- Principal investigator: Lai, Laijun — University of Connecticut Storrs
- Study coordinator: Lai, Laijun
Related research
Other NIH-funded projects on the same topics.
-
Sustained antibody delivery to durably control HIV-1
A project aims to use gene-delivered antibodies to control HIV-1 for a long time without daily pills.
-
Recognizing and Educating about Underdiagnosed Primary Immunodeficiency Disorders
A patient-friendly look at a study aiming to find why primary immunodeficiency disorders are often missed and how to educate clinicians and patients to catch them earlier.
-
Differential control of NK cell growth and survival in people with genetic replisome problems
This grant looks at why natural killer (NK) cells—crucial for fighting infections and cancer—become defective when replisome genes are altered, with a focus on people who have related genetic conditions.
-
Autologous, non-viral genome editing for ART-SCID (a patient-centered approach)
A pediatric immunology researcher is developing a non-viral genome-editing therapy to repair Artemis-deficient SCID using a patient’s own blood-forming cells.
-
EBV-related lymphoma in people with immune deficiency: understanding what drives the disease
A doctor-scientist team will study a type of blood cancer linked to the Epstein-Barr virus in people with immune system problems to learn what makes it worse and how we can diagnose and treat it better.
-
Abatacept for lung disease in people with common variable immunodeficiency (GLILD)
This compares abatacept with a placebo to see whether abatacept can improve the lung disease (GLILD) that can occur in people with CVID.
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.