Research interests
My key research areas:

1) Neurodegeneration: Neurodegenerative diseases result in the progressive damage or death of neurons, leading to a gradual deterioration of the bodily functions controlled by the affected part of the nervous system. My research focus on the three most common causes of neurodegeneration in theelderly, Alzheimer’s disease (AD), Parkinson’s disease (PD) and Frontotemporal dementia (FTD).

2) Gene mutation and early-onset disease. A Mendelian, or single gene disease, is due to a mistake or mutation in one of the 30,000 genes in the genome These genetic mutations are rare but each is sufficient for causing disease on its own. These genes are usually discovered in family studies called linkage studies. In a linkage study, the location of a disease-causing gene is found by finding the best match between the pattern inheritance of disease and location markers in the genome. I am utilising families with heritable forms of dementia to identify novel disease genes.

3) Gene polymorphism and late-onset disease. A genetically complex, or polygenic/multifactorial disease, is caused by a combination of genetic and environmental factors, individually and in interaction with each other. These genetic factors are genetic variations present in the normal population, and each factor tends to increase disease risk by a small amount only. I am examining large cohorts of patients with neurodegenerative diseases to determine how the environment and genes interact to increase disease risk.

4) Epigenome. Heritable changes in gene expression that do not involve coding sequence modifications are referred to as ‘epigenetic’. Whilst research in the epigenetics field has traditionally focused on the field of cancer development, several lines of evidence now suggest that epigenetic changes are important for both neurogenesis and neurodegeneration. Environmental agents have the potential for damaging the developing and mature nervous system, resulting in neurodegenerative diseases. It has been hypothesized that environmental factors can perturb gene regulation by epigenetic modification, leading to altered risk of neurodegenerative diseases. I am examining how a major disease gene, Tau, is regulated by DNA methylation in brain tissue and large cohorts of neurologically healthy and patients with neurodegenerative diseases.