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The utility of polygenic risk score (PRS) for AD and related dementia

Published on April 30, 2026   44 min

A selection of talks on Genetics & Epigenetics

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Hello, everyone. It's my pleasure to present for you today. My name is Valentina Escott-Price. I'm a Professor in Biostatistics and Genetic Epidemiology at the Dementia Research Institute in Cardiff University, United Kingdom. I will be talking to you today about the utility of polygenic risk scores for prediction of risk of Alzheimer's disease and related dementia.
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Genetics of Alzheimer's disease. There are two forms of Alzheimer's disease known in the research field. First is rare early-onset form of Alzheimer's disease where people get onset at about between 30 and 50 years of age and it's very rare form and accounts for less than one in 1,000 Alzheimer's disease cases. We also know that this early onset form of Alzheimer's disease is caused by mutation in genes influencing amyloid. You can see here on the right hand side chromosomes and these are the mutations in blue which are causing this very rare early-onset. Presenilin-1 on chromosome 14, presenilin-2 on chromosome 1 and mutation in APP gene on chromosome 21. We also have a very interesting gene which is called APOE. It is in red here on chromosome 19 and that's the only high genetic risk factor for common late-onset of Alzheimer's disease. Late-onset I mean at age over 60 and an average 65, 67 and later. We also know that late-onset of Alzheimer's disease is a complex genetic disorder and influenced by many gene risks. I will show you in more detail how exactly it works and

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The utility of polygenic risk score (PRS) for AD and related dementia

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