Our Research

Friedreich’s ataxia (FA) is a rare inherited disorder that results in damage to both the brain and spinal cord. Symptoms usually begin in childhood and include problems with movement such as poor balance and coordination, muscle weakness, and speech and hearing impairments. These symptoms gradually worsen over time and patients may develop other conditions such as cardiomyopathy or diabetes mellitus.

FA is caused by a fault in the FXN gene, which results in low levels of a protein called frataxin. Therapies that improve frataxin protein production have strong potential to modify disease progression and represent a major unmet clinical need.

Our team is investigating both gene modification and editing approaches to repair the function of the FXN gene in order to restore frataxin levels back to normal. The aims of this research is to slow or prevent disease progression and reverse the long-term deficits associated with the disease.

Alzheimer’s disease (AD) is the most common form of dementia, causing problems with memory, cognition and social function that prevent the patient from living independently. It is predicted that 50% of people born after the year 2000, will reach the age of 100. By 2050 there will be 132 million dementia patients worldwide, nearly 2 million in the UK itself, approx. 60% of which will suffer from AD. Despite decades of research into potential therapies for AD, there are currently no treatments to prevent progression of the disease and AD remains a major global health challenge.

Whilst no single gene is known to cause AD, different inherited variations of the APOE gene have been reported to either protect or increase the risk for developing the disease. We are therefore pioneering a stem cell gene therapy approach for AD that targets the potentially harmful APOE risk variants in the brain, through replacing them with protective copies of the gene.

Ataxia-telangiectasia (A-T) is a rare inherited childhood multisystem disorder, caused by faults in the ATM gene. Affected children experience accumulation of neurological disability, immunodeficiency, and cancer. There are currently no effective therapies for A-T. Instead, treatment is both supportive and palliative.

Using gene therapy techniques, correction or replacement of the faulty ATM gene has shown to provide therapeutic benefits when tested in models of the disease. Our lab is therefore working on the development of a novel gene correction and delivery system for ATM gene replacement in human blood stem cells.

More information to be provided soon.