Genetics of human neurodegenerative disease
General audience summary:
Neurodegenerative diseases such as Alzheimer's, Parkinson's and Huntington's disease share the common feature of neuronal cell death, or neurons that have lost their structure and function in the central nervous system. This group of diseases often show abnormal folding of particular neuronal proteins, resulting in toxic aggregate formation. Through detailed DNA analysis of large groups of patients, we have determined the DNA changes that increase susceptibility to development of specific disease types. We are also interested in the mechanisms by which protein aggregates form, and how changes in protein function might increase the development of neurodegenerative disease.
Strategic CIMR themes: Neurological Diseases, Rare Genetic Diseases
Funding: Wellcome Trust, Medical Research Council, National Institutes of Health Research (USA)
Research Group members: Michael Fernandopulle, Deniz Ghaffari, James Henderson, Janin Lautenschlager, William Meadows, Jonathon Nixon-Abell, Seema Qamar