John Hardy contributed to a critical breakthrough in understanding what goes wrong in the brains of people suffering from Alzheimer’s disease, the most common form of dementia. He has since led a broader effort to understand the genetic factors underlying several forms of degenerative brain disease, including Parkinson’s disease and motor neuron disease.
John discovered that a mutation in the gene for amyloid precursor protein (APP) caused deposits of a substance called amyloid to form in brain tissue, associated with early-onset Alzheimer’s. Deposits of amyloid, which kills brain cells, later proved to be a primary cause of the disease.
Single mutations in APP are rare, and John’s work now harnesses the power of whole-genome sequencing to reveal the more complex interactions between genes and the environment that increase the risk of neurodegenerative disease. John is the recipient of numerous awards, including the IPSEN, Allied Signal, Potamkin, MetLife and Dan David prizes, as well as the AAIC Lifetime Achievement Award in Alzheimer’s Disease Research, the Anne Marie Opprecht Prize, and the Pritzker Prize for Parkinson’s disease.
Genetics of disease,