Alison Mary Goate is the Jean C. and James W. Crystal Professor and Chair of the Department of Genetics and Genomic Sciences and Director of the Loeb Center for Alzheimer's Disease at

Icahn School of Medicine at Mount Sinai The Icahn School of Medicine at Mount Sinai (ISMMS or Mount Sinai), formerly the Mount Sinai School of Medicine, is a private medical school in New York City. It is the academic teaching arm of the Mount Sinai Health System, which manages eig ...

New York City New York, often called New York City or NYC, is the List of United States cities by population, most populous city in the United States. With a 2020 population of 8,804,190 distributed over , New York City is also the L ...

. She was previously professor of genetics in psychiatry, professor of genetics, and professor of neurology at

Washington University School of Medicine Washington University School of Medicine (WUSM) is the medical school of Washington University in St. Louis in St. Louis, Missouri. Founded in 1891, the School of Medicine has 1,260 students, 604 of which are pursuing a medical degree with or ...

. The Goate Lab studies the

genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...

and molecular bases of

Alzheimer's disease Alzheimer's disease (AD) is a neurodegeneration, neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in short-term me ...

frontotemporal dementia Frontotemporal dementia (FTD), or frontotemporal degeneration disease, or frontotemporal neurocognitive disorder, encompasses several types of dementia involving the progressive degeneration of frontal and temporal lobes. FTDs broadly present as ...

, and

alcoholism Alcoholism is, broadly, any drinking of alcohol (drug), alcohol that results in significant Mental health, mental or physical health problems. Because there is disagreement on the definition of the word ''alcoholism'', it is not a recognize ...

Education and early career

After receiving her

undergraduate degree An undergraduate degree (also called first degree or simply degree) is a colloquial term for an academic degree earned by a person who has completed undergraduate courses. In the United States, it is usually offered at an institution of higher e ...

biochemistry Biochemistry or biological chemistry is the study of chemical processes within and relating to living organisms. A sub-discipline of both chemistry and biology, biochemistry may be divided into three fields: structural biology, enzymology and ...

at the

University of Bristol , mottoeng = earningpromotes one's innate power (from Horace, ''Ode 4.4'') , established = 1595 – Merchant Venturers School1876 – University College, Bristol1909 – received royal charter , type ...

(UK) and her graduate training at

Oxford University Oxford () is a city in England. It is the county town and only city of Oxfordshire. In 2020, its population was estimated at 151,584. It is north-west of London, south-east of Birmingham and north-east of Bristol. The city is home to the ...

(UK), Goate studied under Professors

Theodore Puck Theodore Thomas Puck (September 24, 1916 – November 6, 2005) was an American geneticist born in Chicago, Illinois. He attended Chicago public schools and obtained his bachelors, masters, and doctoral degree from the University of Chicago. His ...

, Professor Louis Lim and Dr. John Hardy. She received a

Royal Society University Research Fellowship __NOTOC__ The Royal Society University Research Fellowship (URF) is a research fellowship awarded to outstanding early career scientists in the United Kingdom who are judged by the Royal Society to have the potential to become leaders in their fie ...

to conduct research at St. Mary's Hospital Medical School in London.

Awards and affiliations

She has received the

Potamkin Prize The Potamkin Prize for Research in Pick's, Alzheimer's, and Related Diseases was established in 1988 and is sponsored by the American Academy of Neurology. The prize is funded through the philanthropy of the Potamkin Foundation. The prize is awarded ...

from the

American Academy of Neurology The American Academy of Neurology (AAN) is a professional society representing over 38,000 neurologists and neuroscientists. As a medical specialty society it was established in 1948 by A.B. Baker of the University of Minnesota to advance the ar ...

(1993), the Zenith Award from the

Alzheimer's Association The Alzheimer's Association was founded by Jerome H. Stone with the help of several family members in Chicago, Illinois, and incorporated on April 10, 1980, as the Alzheimer's Disease and Related Disorders Association, Inc. It is a non-profit Ame ...

, Senior Investigator Award from the Metropolitan Life Foundation, the St. Louis Academy of Science Innovation Award,

Carl Carl may refer to: *Carl, Georgia, city in USA *Carl, West Virginia, an unincorporated community * Carl (name), includes info about the name, variations of the name, and a list of people with the name *Carl², a TV series * "Carl", an episode of te ...

and

Gerty Cori Gerty Theresa Cori (; August 15, 1896 – October 26, 1957) was an Austro-Hungarian and American biochemist who in 1947 was the third woman to win a Nobel Prize in science, and the first woman to be awarded the Nobel Prize in Physiology or Me ...

Faculty Achievement Award at

Washington University in St. Louis Washington University in St. Louis (WashU or WUSTL) is a private research university with its main campus in St. Louis County, and Clayton, Missouri. Founded in 1853, the university is named after George Washington. Washington University is r ...

. (1994), and a Lifetime Achievement Award from the

(2015). She is a fellow of the

American Association for the Advancement of Science The American Association for the Advancement of Science (AAAS) is an American international non-profit organization with the stated goals of promoting cooperation among scientists, defending scientific freedom, encouraging scientific respons ...

. She also serves on the faculty of the Hope Center for Neurological Disorders and is an elected member of the

National Academy of Medicine The National Academy of Medicine (NAM), formerly called the Institute of Medicine (IoM) until 2015, is an American nonprofit, non-governmental organization. The National Academy of Medicine is a part of the National Academies of Sciences, En ...

. Dr. Goate received the Rainwater Prize for Innovation in Neurodegeneration from the Rainwater Charitable Foundation in 2022. Dr. Goate was the first female to be awarded the Piepenbrock-DZNE Prize for Neurodegenerative disease research in 2023.

Research

Goate's research centers on the genetics of Alzheimer's disease and related dementias that led to the development of animal and cellular models and the development of anti-

amyloid Amyloids are aggregates of proteins characterised by a Fibril, fibrillar morphology of 7–13 Nanometer, nm in diameter, a beta sheet (β-sheet) Secondary structure of proteins, secondary structure (known as cross-β) and ability to be Staining, ...

and anti-

tau Tau (uppercase Τ, lowercase τ, or \boldsymbol\tau; el, ταυ ) is the 19th letter of the Greek alphabet, representing the voiceless dental or alveolar plosive . In the system of Greek numerals, it has a value of 300. The name in English ...

therapies. She has been the

principal investigator In many countries, the term principal investigator (PI) refers to the holder of an independent grant and the lead researcher for the grant project, usually in the sciences, such as a laboratory study or a clinical trial. The phrase is also often us ...

on four grants and has co-invented and awarded six patents.

Patents

*APP770 mutant in alzheimer's disease, (1999). *Mutant S182 genes, (1999). *Method for elucidation and detection of polymorphisms, splice variants, and proximal coding mutations using intronic sequences of the Alzheimer's S182 gene, (2000). *

Transgenic A transgene is a gene that has been transferred naturally, or by any of a number of genetic engineering techniques, from one organism to another. The introduction of a transgene, in a process known as transgenesis, has the potential to change the ...

mouse expressing an APP-FAD DNA sequence, (2001). * Pathogenic Tau mutations, (2002). *Markers for addiction, (2011).

Grants

Partial list:

Publications

Semantic Scholar lists 483 publications, 22,943 citations and 1,808 influential citations of Goate's peer-reviewed and original contribution as of 2019. Partial list: * Cited by 5017 as of October 18, 2019. * Cited by 2274 as of October 18, 2019. * Cited by 793 as of October 18, 2019 * Cited by 604 as of October 18, 2019. * Cited by 419 as of October 18, 2019 * Cited by 275 as of October 18, 2019. * Bierut LJ et al. (2012) "ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry." ''Mol Psychiatry'' PMCID: PMC3252425. *Hutton M., et al. (1998) "Association of missense and 5’-splice-site mutations in tau with inherited dementia FTDP-17." ''Nature'' PMID 9641683. *Gitcho M, et al. (2008) "TDP-43 A 315T mutation in familial motor neuron disease." ''Ann Neurol'' PMCID: PMC2747362 *Kauwe JSK, et al. (2008). "Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition." ''Proc Natl Acad Science'' PMCID: PMC2430357. *Bierut L J, et al. (2008). "Variants in nicotinic receptors and risk for nicotine dependence." ''Am J Psychiatry'' PMCID: PMC2574742 *Guerreiro R et al.; (2013) "TREM2 Variants in Alzheimer's Disease" ''NEJM'' PMCID: PMC3631573. * Cruchaga C. et al.; (2013) "GWAS of Cerebrospinal Fluid Tau Levels Identifies Risk Variants for Alzheimer's Disease." ''Neuron'' PMCID: PMC3664945 *Cruchaga C. (2014). "Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease." ''Nature'' PMCID: PMC4050701. * Kauwe JS. et al. (2014) "Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation." ''PLoS Genet.'' PMCID: PMC4207667. *Huang KL, et al. (2017). "A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease." ''Nat Neuroscience'' PMCID: PMC5759334. *Kapoor M, et al. (2019). "Analysis of whole genome-transcriptomic organization in brain to identify genes associated with alcoholism." ''Transl Psychiatry'' PMCID: PMC6376002. *Novikova G, et al. (2021). "Integration of Alzheimer's disease genetics and myeloid genomics identifies disease risk regulatory elements and genes." ''Nat Commun'' PMID: 33712570. *Kapoor M, et al. (2021). "Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases." ''Nat Commun.'' PMID: 34417470.  *Bowles KR, et al. (2021). "ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids." ''Cell.'' PMID: 34314701. *Tcw J, et al. (2022). "Cholesterol and matrisome pathways dysregulated in astrocytes and microglia." ''Cell.'' PMID 35750033. *Podleśny-Drabiniok A, et al. (2024) "BHLHE40/41 regulate microglia and peripheral macrophage responses associated with Alzheimer's disease and other disorders of lipid-rich tissues." ''Nat Commun.'' PMID 38448474.

References

{{DEFAULTSORT:Goate, Alison M. Living people 20th-century British biologists 20th-century British women scientists 21st-century British biologists 21st-century British women scientists Academics of the University of Oxford Alumni of the University of Bristol Alumni of the University of Oxford Alzheimer's disease researchers British geneticists British neuroscientists British women neuroscientists Fellows of the American Association for the Advancement of Science Icahn School of Medicine at Mount Sinai faculty Members of the National Academy of Medicine Psychiatric geneticists Washington University School of Medicine faculty Year of birth missing (living people)