Publications:767
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
- Genetic modifiers of APOE-ε4-associated cognitive decline. Alex G. Contreras, Skylar Walters, Jaclyn M. Eissman, Derek B. Archer, Alexandra N. Regelson, Alaina Durant, Michelle Clifton, Subhabrata Mukherjee, Michael L. Lee, Seo Eun Choi, Phoebe Scollard, Emily H. Trittschuh, Jesse Mez, William S. Bush, Brian W. Kunkle, Carlos Cruchaga, Adam C. Naj, Katherine A. Gifford, Murat Bilgel, Amanda B. Kuzma, Balebail Ashok Raj, Kristin Fargher, Amanda Smith, Lisa Raudin, Gloria Chaing, Norman Relkin, Karen Elizabeth Smith, Hyungsub Shim, Laura L.Boles Ponto, Susan K. Schultz, Antero Sarrael, Raymundo Hernando, Nunzio Pomara, Dick Drost, Irina Rachinsky, Stephen Pasternak, Elizabether Finger, David Bachman, Kenneth Spicer, Hillel Grossman, Mary Sano, Brian Fulton-Howard, Alison M. Goate, Joseph D. Buxbaum, Ricardo Vialle, Andrew Sharp, Alan Renton, Towfique Raj, Jack Humphrey, Shea Andrews. Nature Communications
- Retraction notice to “Generation of a gene-corrected human isogenic iPSC line from an Alzheimer’s disease iPSC line carrying thePSEN1 H163Rmutation” [Stem Cell Res. 79 (2024) 103495]. Damián Hernández, Stephanie Morgan Schlicht, Jordan Elli Clarke, Maciej Daniszewski, Celeste M. Karch, Alison M. Goate, Alice Pébay, Sarah Adams, Ricardo Allegri, Aki Araki, Nicolas Barthelemy, Randall Bateman, Jacob Bechara, Tammie Benzinger, Sarah Berman, Courtney Bodge, Sus Brandon, William Bill Brooks, Jared Brosch, Jill Buck, Virginia Buckles, Kathleen Carter, Lisa Cash, Charlie Chen, Jasmeer Chhatwal, Patricio Chrem Mendez, Jasmin Chua, Helena Chui, Laura Courtney, Carlos Cruchaga, Gregory S. Day, Chrismary DeLaCruz, Darcy Denner, Anna Diffenbacher, Aylin Dincer, Tamara Donahue, Jane Douglas, Duc Duong, Noelia Egido, Bianca Esposito, Anne Fagan, Marty Farlow, Becca Feldman, Colleen Fitzpatrick, Shaney Flores, Nick Fox, Erin Franklin, Nelly Joseph-Mathurin, Hisako Fujii, Alan Renton. Stem Cell Research
- Trajectories of genetic risk across dimensions of alcohol use behaviors. Jeanne E. Savage, Fazil Aliev, Peter B. Barr, Maia Choi, Gabin Drouard, Megan E. Cooke, Sally I. Kuo, Mallory Stephenson, Sarah J. Brislin, Zoe E. Neale, Karen Chartier, Ananda Amstadter, Danielle M. Dick, Emily Lilley, Renolda Gelzinis, Anne Morris, Katie Bountress, Amy E. Adkins, Nathaniel Thomas, Zoe Neale, Kimberly Pedersen, Thomas Bannard, Seung B. Cho, Peter Barr, Holly Byers, Erin C. Berenz, Erin Caraway, James S. Clifford, Megan Cooke, Elizabeth Do, Alexis C. Edwards, Neeru Goyal, Laura M. Hack, Lisa J. Halberstadt, Sage Hawn, Sally Kuo, Emily Lasko, Jennifer Lend, Mackenzie Lind, Elizabeth Long, Alexandra Martelli, Jacquelyn L. Meyers, Kerry Mitchell, Ashlee Moore, Arden Moscati, Aashir Nasim, Jill Opalesky, Alison Goate, Paul Slesinger, Gita Pathak. Addiction
Industry Relationships
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Below are financial relationships with industry reported by Dr. Goate during 2025 and/or 2026. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Consulting or Other Professional Services
Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership- Merck & Co., Inc.
- VIB Center for Molecular Neurology, University of Antwerp, Belgium
- Sanofi Aventis
- DZNE
- Katholieke Universiteit Leuven
Mount Sinai’s faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.