Genome editing approaches to treat alpha thalassemia
Official title: Developing genome editing strategies to treat alpha thalassemia
Funded at University of California, San Francisco · NIH-11226215 · Data updated 2026-11-12
A research project aims to develop new genome-based therapies to help people with alpha-thalassemia, including those with the most severe form.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project start | January 1, 2022 |
| Project end | February 28, 2030 |
| Funding year | 2026 |
| Award (this year) | $819,998 |
| NIH project number | 2R01HL161291-05 |
| Project ID | NIH-11226215 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults and children with transfusion-dependent alpha-thalassemia or those at risk of severe disease who may be eligible for future genome-editing therapies.
✕Less likely to help
Patients without alpha-thalassemia or those who would not qualify for future genome-editing approaches may not benefit.
What this research studies
This work focuses on using genome editing to treat alpha-thalassemia, a blood disorder caused by problems with the alpha-globin genes. The researchers are exploring practical ways to translate ex vivo genome editing into therapies that could be given to patients who need transfusion support or stem cell transplantation. The study discusses challenges such as time, cost, and safety of modifying a patient’s own cells and preparing them for reinfusion, with a path toward testing in humans. It emphasizes the unmet medical need for curative options beyond transfusions and transplantation and describes steps toward a clinical-ready strategy.
Why it matters
Potential benefit: If successful, this work could lead to a curative treatment for alpha-thalassemia that reduces or eliminates the need for ongoing transfusions or donor-dependent transplants.
How similar studies have gone: Previous ex vivo genome-editing efforts showed promise, but translating these approaches to patients remains challenging and this project aims to advance toward a clinical-ready solution.
Where this research is happening
-
University of California, San Francisco
San Francisco, United States Active
Researchers
- Principal investigator: Mackenzie, Tippi — University of California, San Francisco
- Study coordinator: Mackenzie, Tippi
Related research
Other NIH-funded projects on the same topics.
-
Iron overload and low oxygen in pregnancy with beta-thalassemia
A patient-friendly look at how excess iron and low oxygen during pregnancy could affect mothers and babies in beta-thalassemia.
-
New mouse models and gene therapy for severe alpha-thalassemia
A patient-focused research opportunity to better understand severe alpha-thalassemia and explore gene-therapy approaches using new mouse models.
-
How excess iron and low oxygen affect pregnancy in people with beta-thalassemia
Looking at how excess iron and low oxygen in beta-thalassemia affect mothers, placentas, and babies during pregnancy.
-
Creating new mouse models to understand and treat severe alpha-thalassemia.
This study is creating new mouse models to help us learn more about severe alpha-thalassemia, a condition that affects red blood cells, and to explore possible gene therapy treatments that could help people with this disease.
-
Clearing excess alpha-globin to help people with beta-thalassemia
This research looks at whether boosting a cell 'self-cleaning' pathway (ULK1-driven autophagy) can remove toxic excess alpha-globin and help people with beta-thalassemia.
-
Effects of iron overload and low oxygen on pregnancy in women with β-thalassemia
This study looks at how too much iron and not enough oxygen during pregnancy can affect the health of women with β-thalassemia and their babies, aiming to find ways to make pregnancy safer for them.
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.