Join us for the next instalment of the STAGE International Speaker Seminar Series (ISSS) with
Joseph H. Lee
Associate Professor, Department of Epidemiology, School of Public Health, Columbia University;
Sergievsky Center & Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons
Talk Title:
Examination of human knock-in models to identify protective genetic factors for Alzheimer disease: Exploring PSEN1 founder mutation carriers and adults with Down syndrome
Abstract:
Natural experiments take advantage of extreme conditions, created by biological, geographical or political events, and allow us to investigate how genetic and/or environmental factors influence phenotypes of interest. In so doing, such experiments can simplify the complexity inherent in human biology and may reveal genetic factors that have modest to weak effect size in the general population. For this talk on Alzheimer disease, I will discuss some of the findings from our two studies on high-risk cohorts: Puerto Rican families that have multiple PSEN1-G206A mutation carriers and adults with Down syndrome. These high-risk individuals who carry the PSEN1 mutation or those who have three copies of the APP gene should develop Alzheimer disease at a relatively young age. Yet, some resist developing Alzheimer disease despite their old age. By examining these individuals, we aim to identify genetic factors that may delay the age at onset of Alzheimer disease, thereby providing novel therapeutic target
Speaker Profile:
Unavailable
Speaker Poster:
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