Alison M Goate, DPhil

About Me

Alison M. Goate, DPhil, is the Jean C. and James W. Crystal Professor of Genomics, Chair of the Department of Genetics and Genomic Sciences, Professor of Neuroscience and Neurology, and faculty of the Icahn Genomics Institute at the Icahn School of Medicine at Mount Sinai. She has worked on the genetics of neurodegenerative diseases including Alzheimer’s disease (AD) and Frontotemporal Dementia (FTD) since 1987, and is the founding director of the Ronald M. Loeb Center for Alzheimer’s Disease at Mount Sinai.

Over the last three decades, Dr. Goate has been part of many gene finding teams that have successfully identified disease-causing variants for both AD and FTD. While working at Imperial College in London, she reported the first mutation to cause familial Alzheimer’s disease, and her early studies at Washington University in St. Louis identified a genetic mutation in Colombian families that are now part of the Alzheimer’s Prevention Initiative clinical trial. Her lab was also part of the team that first reported MAPT mutations in FTD.

Dr. Goate is also a leader in the study of late onset AD genetics using integrative genomic approaches to identify novel genetic risk factors. Her work led to the identification of Trem2 as a risk factor for AD and has highlighted the enrichment of AD risk variants in microglial enhancers, regulatory elements in DNA that control gene expression in immune cells of the brain. Dr. Goate is now building upon these insights using genome editing in induced pluripotent stem cells to understand the molecular mechanisms of disease and to develop novel therapeutics.

Dr. Goate has received the Potamkin Award from the American Academy of Neurology, the Khalid Iqbal Lifetime Achievement Award from the Alzheimer’s Association, the Rainwater Prize, and the MetLife Award for herresearch on AD. She was elected a fellow of the American Association for the Advancement of Science in 2012, and a fellow of the National Academy of Medicine in 2016.

Visit Dr. Goate's Lab Page here.

Language

English

Position

PROFESSOR & CHAIR | Genetics and Genomic Sciences, PROFESSOR | Neuroscience, PROFESSOR | Neurology

Research Topics

Alzheimer's Disease, Gene editing, Genomics, Neurobiology, Neuroscience

Multi-Disciplinary Training Areas

Genetics and Genomic Sciences [GGS], Immunology [IMM], Neuroscience [NEU]

Education

BSc, Hons, University of Bristol

DPhil, Linacre College, University of Oxford

Postdoctoral Research Fellow, Eleanor Roosevelt Institute for Cancer Research

Postdoctoral Research Fellow, Institute of Neurology, University College London

Postdoctoral Research Fellow, St. Mary's Hospital Medical School, Imperial College

Awards

2023

Piepenbrock-DZNE Prize for Neurodegenerative disease research

Piepenbrock-DZNE

2022

Rainwater Prize for Innovation in Neurodegeneration

Rainwater Charitable Foundation

2022

Best Female Scientists in the World

Research.com

2020

Keynote Address, Tau 2020, Washington D.C

2019

Methusalem Lecture, VIB-KU, Center for Brain & Disease Research, Leuven

2019

Plenary Lecture, 6th Venusberg Meeting on Neuroinflammation (5/9/19)

2019

DeArmond Lecture American Association of Neuropathologists, Atlanta

2019

F.E. Bennett Memorial Lectureship, American Neurological Association, St. Louis

2018

Affiliated Faculty, New York Genome Center (NYGC)

2016

Elected member of the National Academy of Medicine

2015

Willard T.C. Johnson Research Professor of Neurogenetics (ISMMS)

2015

Khalid Iqbal Lifetime Acheivement Award, Alzheimer’s Association

2015

Blas Frangione Foundation Lecture

NYU

2015

Willard T.C. Johnson Research Professor of Neurogenetics, Professor of Neuroscience, Professor of Neurology, Professor of Genetics & Genomic Sciences

Icahn School of Medicine at Mount Sinai

2015

Director, Ronald Loeb Center for Alzhemier’s Disease

Icahn School of Medicine at Mount Sinai

2015

Associate Director, Alzheimer’s Disease Research Center

Icahn School of Medicine at Mount Sinai

2012

Elected Fellow, American Association for the Advancement of Science

2005

Carl & Gerty Cori Faculty Achievement Award

1994

Senior Investigator Award, Metropolitan Life Foundation

1994

St. Louis Academy of Science Innovation Award

1993

Potamkin Prize for Alzheimer's disease research

1993

Zenith Award, Alzheimer's Association

1989-

Royal Society University Research Fellow

Research

Research in our 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 integration of multiple levels of OMICs data with genetic data from genome wide association studies and whole genome/exome sequencing in families multiply affected by disease and in case control cohorts. Through these studies we have demonstrated an enrichment of AD risk variants in microglial enhancers. Interestingly variants within the SPI1 (PU.1) locus, a gene which regulates myeloid cell differentiation, influence risk for AD and for alcoholism, demonstrating the importance of neuroimmune communication in both disorders. We are currently pursuing these observations in cell and animal models with the goal of developing PU.1 inhibitors for treatment of AD. In combination with our genetic studies we use induced pluripotent stem cells in vitro and in vivo to study the mechanisms of risk underlying the AD risk genes. To date we have performed functional studies of APOE, SPI1 and MS4A4A/6A in induced microglia. We also have an extensive program studying the functional consequences of MAPT mutations and haplotypes in tauopathies such as PSP and FTD, using iPSC-derived neurons and organoids.

Publications

Publications:761

Selected Publications

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