The focus of my research is to map genes that contribute to Alzheimer Disease (AD) and related traits. For this purpose, we apply statistical genetics methods to better understand the relations among genetic factors and AD as well as other AD-related phenotypes. We explore the genotype-phenotype relations from several different angles. First, we search the entire human genome to identify additional AD susceptibility genes. In an earlier study, we identified several candidate regions for AD, we are now focusing on those regions to identify potential AD susceptibility genes, using over 200 multi-generational families with multiple affected family members. Second, we examine genetic contributions to intermediate risk factor phenotypes for AD, such as decline in memory and other neuro-cognitive functions. By studying pre-clinical phenotypes that are present in all, not just affected, individuals and are predictors of AD, we may be able to better understand genetic contributions to the natural history of AD. We are currently working to incorporate amyloid ß and telomere as additional phenotypes. Third, we study genetic contributions to memory in a healthy aging population, which should complement the findings from the AD study. Lastly, we are recruiting ethnic Korean families in Kazakhstan and in the US to understand genetic and environmental factors that influence normal variations in memory and other related phenotypes.

Selected Recent Publications:

• Lee JH*, Mayeux R*, Mayo D, Mo J, Santana V, Williamson J, Flaquer A, Ciappa A, Rondon HZ, Estevez P, Lantigua R, Kawarai T, Toulina A, Medrano M, Torres M, Stern Y, Tycko B, Rogaeva E, St George-Hyslop P, Knowles JA. Fine mapping of 10q and 18q for familial Alzheimer disease among Caribbean Hispanics. Molecular Psychiatry.
• Lee JH, Flaquer A, Stern Y, Tycko B, Mayeux R. Genetic influences on memory performance in familial Alzheimer’s disease. Neurology 2004;62: 414-421.
• Lee JH. Genetic evidence for cognitive reserve: Variations in memory and related cognitive functions. Journal of Clinical and Experimental Neuropsychology 2003;25(5):594-613.
• Mayeux R*, Lee JH*, Romas SN, Mayo D, Santana V, Willamson J, Ciappa A, Rondon HZ, Estevez P, Lantigua R, Medrano M, Torres M, Stern Y, Tycko B, Knowles JA. Chromosome 12 mapping of late-onset Alzheimer’s disease among Caribbean Hispanics. American Journal of Human Genetics 2002;70:237-243.
• Athan E, Williamson J, Ciappa A, Santana V, Romas SN, Lee JH, Zadroga HR, Lantigua R, Medrano M, Torres M-B, Arawaka S, Rogaeva E, Song Y, Sata C, Kawarai T, St. George-Hyslop P, Stern Y, Tycko B, Mayeux R. A novel founder mutation Presenilin 1 causing familial, early onset Alzheimer’s disease in Caribbean Hispanics. JAMA 2001;286(18):2257-63.

* Authors contributed equally.