John Hardy discovered the first defined genetic cause of Alzheimer’s disease: a mutation in the APP gene, and framed the amyloid cascade hypothesis for this prevalent disorder.

In support of this hypothesis, his group has been involved in many of the subsequent findings which underpin it including making amyloid depositing mice, identifying tau mutations as causative in Pick’s disease and in making transgenic mice with tangles and with plaques and tangles (the full pathology of Alzheimer’s disease).

His group also identified synuclein gene duplications as causative for Parkinson’s disease and most recently have been using whole genome analysis to study complex neurologic disease and gene expression.