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Lab Phone: 617-726-6845
Research Investigator Profile
Rudolph E. Tanzi, PhD
The focus of my research is in identifying and characterizing the genetic and environmental factors involved in neurodegeneration in Alzheimer's disease in autism. In addition to identifying risk factors for Alzheimer's disease, we address the mechanisms underlying the etiology and pathogenicity of the genes responsible for Alzheimer's disease through the application of molecular, cell biological, and biochemical strategies. Our ongoing research in AD and autism follows a basic roadmap, which includes disease gene discovery, translational and functional studies to identify pathogenic gene variants and mutations, molecular biological and biochemical studies to elucidate pathways that have been impacted by disease-associated gene changes, and novel drug screening assays to identify small molecules or supplements that can halt or reverse pathogenic molecular and biochemical phenotypes at the cellular level.
My research is aimed at identifying and characterizing Alzheimer’s disease (AD)-associated gene mutations and variants with the ultimate goal of defining the molecular, cellular, and biochemical events leading to neuronal cell death in the brains of AD victims. A significant portion of AD involves inheritance of defective genes variants and mutations that influence one’s lifetime risk for the disease. To date, four different genes have been firmly implicated to play a role in familial Alzheimer's disease (FAD). Our laboratory has co-discovered three of these genes: the amyloid bprotein precursor [APP], presenilin 1 [PSEN1], and presenilin 2 [PSEN2]) that harbor defects causing "early-onset" forms of the disease with 100% certainty under 60 years old. Our current studies are targeted toward determining the pathogenic mechanisms by which these gene defects contribute to the neurodegenerative process in the brains of AD patients. The known late-onset AD gene, APOE, accounts for 30-40% of the genetic variance of AD. Thus, we have been carrying out genome-wide association scans to search for novel AD genes using >1300 AD families 1M SNP chips. We have also collaborated on the completion of a genome-wide association screen of families with autism (N=3700) and identified novel candidate genes on chromosomes 5 and 16. Our research in both AD and autism follows a basic road map starting with disease gene discovery, then proceeding into translational and functional studies to identify pathogenic gene variants and mutations, and finally progressing to novel drug screening to identify small molecules that can halt or reverse pathogenic molecular and biochemical phenotypes at the cellular level.
For more information, visit the Tanzi Lab, at MIND.
Molecular biology, gene analysis, RNAi, protein biochemistry, cell biology, genotyping, genome-wide association scanning
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