Project information
Ataxia Telangiectasia: Using stem cells and gene therapy to restore ATM protein function
Principal researchers: Associate Professor Kevin Kemp
Institute: University of Bristol, UK
Cost: £122,817 over 24 months. Funding partners: Action for A-T, Action Medical Research, AEFAT, AT Society, BrAshA-T
Start Date: 1st November 2026
What are the researchers proposing to do?
Dr Kemp and his team will use specially modified viruses to deliver a healthy, working copy of the ATM gene into blood-forming stem cells taken from people with AT. These stem cells can produce many different types of immune cells. The researchers will then grow the treated cells in the laboratory and turn some of them into microglia – immune cells that live in the brain and are thought to contribute to the loss of nerve cells in AT. They will test whether restoring the ATM protein can help these cells work normally again.
Why?
AT can cause severe physical disability, problems with the immune system and an increased risk of cancer. These problems are caused by faults in the ATM gene, which mean the body does not make enough working ATM protein. There is an urgent need for treatments that address the underlying cause of AT, rather than just managing its symptoms. Dr Kemp and his team believe that restoring ATM function in immune cells could have benefits throughout the body and brain. It could potentially improve immune function, reduce cancer risk and help protect the brain from the progressive nerve cell damage seen in AT.
The study will find out whether this new stem cell gene therapy approach could provide the basis for a disease-modifying treatment for people with AT and generate the evidence needed to move towards clinical trials.
How will the research be done?
The team will take blood-forming stem cells from people with AT and use specially modified viruses to deliver a healthy, working copy of the ATM gene into these cells. The aim is to enable the cells to produce functional ATM protein. The treated stem cells will then be grown in the laboratory. Some will be developed into microglia, the immune cells found in the brain. These cells will then be studied to see whether restoring the ATM protein can correct the problems caused by AT and help the cells function normally again.
The results will show whether this approach has enough potential to be developed further.
How could this make a difference to the lives of those affected by AT?
There is an urgent need for treatments that tackle the underlying causes of AT. By restoring the function of the faulty ATM gene in immune cells, this research could ultimately lead to a treatment that addresses several serious effects of the condition at the same time. The researchers hope the approach could improve immune function, reduce the risk of cancer and help protect the brain from progressive nerve cell damage. Importantly, the team believe their approach could offer an alternative to existing immune replacement gene therapy strategies, with the potential to reduce treatment-related risks and improve long-term health outcomes.
While this research is still at a laboratory stage, if successful it will provide important evidence needed to move the treatment towards clinical trials. The researchers’ long-term goal is to develop a disease-modifying treatment for all people with AT, potentially changing the course of the condition rather than only managing its symptoms.