Biography
Research Topics
Multi-Disciplinary Training Area
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.
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
Honors & 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
Publications
Publications