Alison Goate, MD, DPhil
Icahn School of Medicine at Mount Sinai
Dr. Alison Goate has worked on Alzheimer's disease genetics since 1987 as a postdoctoral fellow with Dr. John Hardy - at Imperial College, London. In 1992 she moved to Washington University in St. Louis, where she stayed until 2014, when she moved to the Icahn School of Medicine at Mount Sinai as the founding director of the Ronald M. Loeb Center for Alzheimer’s disease. She has been part of many gene finding teams that have successfully identified disease causing variants for both AD and FTD. Whilst working with Dr. Hardy she reported the first mutation to cause familial Alzheimer's disease and early studies at Washington University identified the mutation in the Colombian families that are now part of the API clinical trial.
Dr. Goate is also a leader in the study of late onset AD genetics using both GWAS and sequencing approaches. She has demonstrated that LOAD families can carry PSEN mutations with reduced penetrance. Her team led the identification of rare variants in PLD3 as a risk factor for AD and collaborated with John Hardy in the identification of Trem2 as an AD risk factor. More recently her work on common variants has highlighted the importance of microglial expressed genes in AD risk, identifying SPI1/Pu.1 as an important regulator of AD risk genes. Fine mapping of AD risk loci has identified causal genes/variants in many loci and further emphasized the importance microglial gene expression and function to AD risk. Dr. Goate has received the Potamkin Award and the MetLife Award for her research on AD and was elected a fellow of AAAS in 2012 and a fellow of the National Academy of Medicine in 2016.