MAR 20, 2014 12:00 PM PDT

The Genetics of Alzheimer's disease

Presented At Neuroscience
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  • Samuel & Mae S. Ludwig Professor of Genetics in Psychiatry, Professor of Neurology, Dept. of Psychiatry, Washington University School of Medicine
      Alison M Goate is the Samuel & Mae S Ludwig Professor of Genetics in Psychiatry, Professor of Genetics and Professor of Neurology at Washington University School of Medicine in St Louis (MO, USA). Dr Goate studied for her undergraduate degree in biochemistry at the University of Bristol (UK) and received her graduate training at Oxford University (UK). She performed postdoctoral studies with Professor Theodore Puck, Professor Louis Lim and Dr John Hardy before receiving a Royal Society University Research Fellowship to support her independent research program at St Mary's Hospital Medical School in London. In 1991, Dr Goate and colleagues reported the first mutation linked to an inherited form of Alzheimer's disease, in the amyloid precursor protein (APP) gene on chromosome 21. The mutation was found to be linked to inherited cases of early-onset Alzheimer's disease. In 1992, Dr Goate moved to Washington University as an Associate Professor in Genetics and Psychiatry. Dr Goate and colleagues have since identified mutations in four other genes, including two that cause Alzheimer's disease and two that cause the related dementia frontotemporal dementia. In addition to her work on dementia, Dr Goate's laboratory also studies the genetics of alcohol and nicotine dependence. Dr Goate has received numerous awards including the Potamkin Award from the American Academy of Neurology, the Zenith Award from the Alzheimer's Association, the Senior Investigator Award from the Metropolitan Life Foundation, the St Louis Academy of Science Innovation Award and the Carl and Gerty Cori Faculty Achievement Award at Washington University. Dr Goate has been a member of many scientific Review Boards and currently serves on the Editorial Boards of several journals.


    Alzheimers disease (AD) is a common neurodegenerative disorder characterized clinically by progress decline in memory and thinking and pathologically by the presence of senile plaques and neurofibrillary tangles. The strongest risk factors for AD are age family history. Early genetic studies of AD focused on families where the disease exhibited an autosomal dominant pattern of inheritance. Genetic studies in these families identified mutations in three genes that generally cause an early onset form of the disease. These genes pointed to the amyloid peptide, which is the primary component of the senile plaques as central to disease pathogenesis. Subsequent studies in the late onset form of the disease using genome-wide approaches to study both common and rare genetic variation have identified evidence for many more genes that can influence risk for AD. These studies have uncovered other pathways including innate immunity and lipid metabolism that also play key roles in disease risk and point to potential therapeutic targets for treatment of disease.

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