Joseph H Lee, PhD, is a genetic epidemiologist and associate professor of epidemiology at Columbia University. He received his doctorate in genetic epidemiology from Columbia University and received his postdoctoral training in statistical genetics at the University of Pennsylvania. His current research efforts concentrate on gene mapping of AD and related traits. To identify and characterize susceptibility genes, he has been studying large extended pedigrees with unique genetic characteristics, including a founder Caribbean Latino population in the United States; isolated inbred families in Venezuela; a cohort of adults with Down syndrome; etc. For the current project, he is focusing on families that carry a founder G206A mutation in the PSEN1 gene to identify genetic modifiers of age at onset of AD. To date, he has contributed to the identification and clinical characterization of SORL1 and other sortilin-related genes as susceptibility genes for AD; the identification of the founder PSEN1 mutation in Caribbean Latinos; and identification and characterization of genes for dementia in adults with Down syndrome.
"My interest in travel has complemented my research interests well. I’ve been to Puerto Rico to study families with a founder PSEN1 mutation, to Venezuela to study isolated indigenous Indian families living in Lake Maracaibo in Venezuela, and to Kazakhstan to study ethnic Kazakhs as well as ethnic Koreans who have been forcibly migrated to Kazakhstan. While these unique cohorts allow us to study different scientific questions in a powerful way, they also allow me to travel and experience different cultures, foods, and languages.
In this study, even though our research is focused on 75 large families carrying a rare mutation that causes early Alzheimer’s disease in this unique set of Puerto Ricans. However, our hope is that these variants will lead us to a much broader goal -- the discovery of potentially modifiable factors that influence age-at-onset of AD in the common late-onset form of AD that affects most people without any known mutations. This will be, scientifically speaking, quite a treasure, as it could represent a gain in disease-free years for many people at risk of developing AD."