Publications:744
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
Selected Publications
- Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer’s disease. Phoebe Valdes, Andrew B. Caldwell, Qing Liu, Michael Q. Fitzgerald, Srinivasan Ramachandran, Celeste M. Karch, Xiong Xu, Jinbin Xu, Chengjie Xiong, Elise Weamer, Qing Wang, Peter Wang, Jonathan Vöglein, Sarah Thompson, Kevin Taddei, Sochenda Stephens, Hamid Sohrabi, Beth Snitz, Lori Smith, Jennifer Smith, Wendy Sigurdson, Hiroyuki Shimada, Kristine Shady, Nicholas T. Seyfried, Michio Senda, Peter Schofield, Stephen Salloway, John Ringman, Alan Renton, Oliver Preische, Lingyan Ping, Richard Perrin, Riddhi Patira, Antoinette O’Connor, Ulricke Obermüller, Brigitte Nuscher, Joanne Norton, James Noble, Yoshiki Niimi, Katie Neimeyer, Akemi Nagamatsu, Neelesh Nadkarni, Cath Mummery, James Mountz, John Morris, Estrella Morenas-Rodriguez, Arlene Mejia, Eric McDade, Austin McCullough, Alison Goate. Alzheimer's Research and Therapy
- A rapid and robust protocol for generating loss-of-function alleles in pluripotent stem cells. Erdene Baljinnyam, Laura Grisanti, Shalini Tattari, Chiara Pedicone, Bhavana Shewale, Nicole Dubois, Alison M. Goate, William G. Kerr, Samuele G. Marro. STAR Protocols
- Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro. Anna Podleśny-Drabiniok, Carmen Romero-Molina, Tulsi Patel, Wen Yi See, Yiyuan Liu, Edoardo Marcora, Alison M. Goate. Cell Reports