Description | John Hardy has played a critical role in the development of the "amyloid hypothesis" of Alzheimer's disease (AD) pathology. He was a key member of the team which identified missense mutations in the amyloid precursor protein (APP) gene on chromosome 21 as causal factors for an early onset autosomal dominant form of familial AD. He subsequently demonstrated that individuals carrying the APP mutations or mutations in presenilins had elevated blood beta-amyloid (BetaA) levels, and that mice carrying the mutations as a transgene also had elelvated BetaA production and deposition. These animal models of AD have been of great importance to subsequent therapeutic research in the field. |