Alison Goate, D.Phil.

Willard TC Johnson Research Professor of Neurogenetics at Icahn School of Medicine at Mount Sinai

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Research in Dr. Goate’s laboratory focuses on dementia (Alzheimer’s disease & frontotemporal dementia) and addiction (alcohol dependence). In each of these projects our goal is to understand the molecular basis of disease in order to identify novel targets for therapeutic development. We use genetic and genomic approaches to identify susceptibility alleles, this work includes genome wide association studies and whole genome/exome sequencing in families multiply affected by disease and in case control cohorts. Since 2013 and the discovery of TREM2 as an AD risk factor (Guerreiro et al., 2013) we have focused on the role of myeloid cells in the genetics of AD. This has recently resulted in a paper (Huang et al., 2017) linking a network of AD risk genes to another myeloid expressed gene, SPI1. We have also pioneered the use of endophenotypes to uncover both risk and protective alleles in both our Alzheimer’s disease and our alcoholism studies. Our functional analyses are aimed at validating these and other genes identified in the genetic studies. We are using induced pluripotent stem cells from individuals with known genetic causes of disease in order to model the effects of these mutations in disease relevant cell types and performing in vivo analyses in collaboration with Drs. Edoardo Marcora and Anne Schaefer.