Josee Dupuis, PhD
Adjunct Professor
Boston University School of Public Health

PhD, Stanford University
MS, Stanford University
BS, Concordia University

Josée Dupuis, Ph.D, is an adjunct Professor of Biostatistics at Boston University School of Public Health (BUSPH). She was previously Chair of Biostatistics at BUSPH. She has held a faculty position at Northwestern University and a senior statistical geneticist position at Genome Therapeutics Corporation, a small biotech company. She has extensive experience in the development and application of methods for genome-wide association studies, gene by environment interaction investigation, genetic meta-analysis and rare variant analysis, with special emphasis on the development of novel statistical approaches to analyze genetic data collected on large families. She is involved in the Framingham Heart Study, collaborating on projects to identify genes influencing diabetes related traits and pulmonary function traits.

Chair of Biostatistics
Boston University School of Public Health

Framingham Heart Study

Boston University
Bioinformatics Graduate Program

Boston University
Genome Science Institute

TOPMed Omics of Type 2 Diabetes and Quantitative Traits
01/01/2021 - 12/31/2025 (Co-Investigator of Sub-Project / SP)
Massachusetts General Hospital NIH NIDDK

Nutritional Omics of Pulmonary Function Decline
11/15/2019 - 07/31/2024 (Co-Investigator of Sub-Project / SP)
RTI International NIH NHLBI

The Role of Genetic Susceptibility in Central American Kidney Disease Epidemic
07/01/2018 - 06/30/2024 (Co-Investigator of Sub-Project / SP)
PI: Daniel Brooks, DSc
NIH/National Diabetes & Digestive & Kidney Diseases

Mechanism connecting dysregulated BCAA glucose and lipid metabolism in the pathogenesis of metabolic disease
08/19/2019 - 07/31/2022 (Subcontract PI)
Duke University NIH NIDDK

VA241-16-D-0012 VA Master Contract Task Order 23 (Luke Ruscowitz-Orazem)
09/01/2020 - 08/31/2021 (PI)
VA Boston Healthcare System

TOPMed Contribution to the AMP-T2D Knowledge Portal
04/01/2019 - 05/31/2021 (Co-Investigator)
PI: Ching-Ti Liu, PhD
Foundation for the National Institutes of Health

TOPMed Whole Genome Sequence Analysis of Type 2 Diabetes and Related Traits
05/01/2017 - 04/30/2021 (Subcontract PI)
The Broad Institute, Inc. NIH NIDDK

VA241-16-D-0012 VA Master Contact Task Order 1-6, 9
02/01/2016 - 01/31/2021 (PI)
VA Boston Healthcare System

VA241-17-D-0092 VA Master Contract Task Order 16
10/01/2019 - 09/30/2020 (PI)
VA Boston Healthcare System

VA241-16-D-0012 VA Master Contact Task Order 15
09/01/2019 - 08/31/2020 (PI)
VA Boston Healthcare System

Showing 10 of 36 results. Show All Results


Yr Title Project-Sub Proj Pubs

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.

iCite Analysis       Copy PMIDs To Clipboard

  1. Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, Wang D, Bis JC, Blue EE, Boerwinkle E, De Jager PL, Fornage M, Wijsman EM, Seshadri S, Dupuis J, Peloso GM, DeStefano AL. Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data. Alzheimers Dement. 2024 Mar 21.View Related Profiles. PMID: 38511601
  2. Seo J, Gaddis NC, Patchen BK, Xu J, Barr RG, O'Connor G, Manichaikul AW, Gharib SA, Dupuis J, North KE, Cassano PA, Hancock DB. Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function. Am J Clin Nutr. 2024 Mar 12.View Related Profiles. PMID: 38484975
  3. Zhang J, Moll M, Hobbs BD, Bakke P, Regan EA, Xu H, Dupuis J, Chiles JW, McDonald MN, Divo MJ, Silverman EK, Celli BR, O'Connor GT, Cho MH. Genetically Predicted Body Mass Index and Mortality in COPD. Am J Respir Crit Care Med. 2024 Mar 12.View Related Profiles. PMID: 38471013
  4. Higbee DH, Lirio A, Hamilton F, Granell R, Wyss AB, London SJ, Bartz TM, Gharib SA, Cho MH, Wan E, Silverman E, Crapo JD, Lominchar JVT, Hansen T, Grarup N, Dantoft T, Kårhus L, Linneberg A, O'Connor GT, Dupuis J, Xu H, De Vries MM, Hu X, Rich SS, Barr RG, Manichaikul A, Wijnant SRA, Brusselle GG, Lahousse L, Li X, Hernández Cordero AI, Obeidat M, Sin DD, Harris SE, Redmond P, Taylor AM, Cox SR, Williams AT, Shrine N, John C, Guyatt AL, Hall IP, Davey Smith G, Tobin MD, Dodd JW. Genome-wide association study of preserved ratio impaired spirometry (PRISm). Eur Respir J. 2024 Jan; 63(1).View Related Profiles. PMID: 38097206; PMCID: PMC10765494; DOI: 10.1183/13993003.00337-2023;
  5. Stafford R, Chatzidakis S, Kim ISY, Zhang Y, Rina A, Brush B, Mian A, Abdalkader M, Greer DM, Smirnakis SM, Feske SK, Dupuis J, Ong CJ. Follow-up ASPECTS improves prediction of potentially lethal malignant edema in patients with large middle cerebral artery stroke. J Neurointerv Surg. 2023 Dec 30.View Related Profiles. PMID: 38160055
  6. Mebratu YA, Jones JT, Liu C, Negasi ZH, Rahman M, Rojas-Quintero J, O'Connor GT, Gao W, Dupuis J, Cho MH, Litonjua AA, Randell S, Tesfaigzi Y. Bik promotes proteasomal degradation to control low-grade inflammation. J Clin Invest. 2023 Dec 19; 134(4).View Related Profiles. PMID: 38113109; PMCID: PMC10866658; DOI: 10.1172/JCI170594;
  7. Ong C, Huang Q, Kim I, Pohlmann J, Chatzidakis S, Brush B, Zhang Y, Du Y, Mallinger LA, Benjamin EJ, Dupuis J, Greer D, Smirnakis S, Trinquart L. Dynamic trajectories of life-threatening mass effect in patients with large middle cerebral artery stroke. Res Sq. 2023 Nov 20.View Related Profiles. PMID: 38045289; PMCID: PMC10690305; DOI: 10.21203/;
  8. Tobias DK, Manning AK, Wessel J, Raghavan S, Westerman KE, Bick AG, Dicorpo D, Whitsel EA, Collins J, Correa A, Cupples LA, Dupuis J, Goodarzi MO, Guo X, Howard B, Lange LA, Liu S, Raffield LM, Reiner AP, Rich SS, Taylor KD, Tinker L, Wilson JG, Wu P, Carson AP, Vasan RS, Fornage M, Psaty BM, Kooperberg C, Rotter JI, Meigs J, Manson JE. Clonal Hematopoiesis of Indeterminate Potential (CHIP) and Incident Type 2 Diabetes Risk. Diabetes Care. 2023 Nov 01; 46(11):1978-1985. PMID: 37756531; PMCID: PMC10620536; DOI: 10.2337/dc23-0805;
  9. Sarnowski C, Huan T, Ma Y, Joehanes R, Beiser A, DeCarli CS, Heard-Costa NL, Levy D, Lin H, Liu CT, Liu C, Meigs JB, Satizabal CL, Florez JC, Hivert MF, Dupuis J, De Jager PL, Bennett DA, Seshadri S, Morrison AC. Multi-tissue epigenetic analysis identifies distinct associations underlying insulin resistance and Alzheimer's disease at CPT1A locus. Clin Epigenetics. 2023 Oct 27; 15(1):173.View Related Profiles. PMID: 37891690; PMCID: PMC10612362; DOI: 10.1186/s13148-023-01589-4;
  10. Wang D, Scalici A, Wang Y, Lin H, Pitsillides A, Heard-Costa N, Cruchaga C, Ziegemeier E, Bis JC, Fornage M, Boerwinkle E, De Jager PL, Wijsman E, Dupuis J, Renton AE, Seshadri S, Goate A, DeStefano AL, Peloso GM. Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP). medRxiv. 2023 Oct 25.View Related Profiles. PMID: 37961373; PMCID: PMC10635182; DOI: 10.1101/2023.10.24.23297227;
Showing 10 of 328 results. Show More

This graph shows the total number of publications by year, by first, middle/unknown, or last author.

Bar chart showing 328 publications over 30 distinct years, with a maximum of 26 publications in 2023


2020 American Society of Human Genetics : Mentorship Award
2019 International Genetic Epidemiology (IGES) : Leadership Award
2019 University of Colorado, Denver: Benjamin F. Stapleton, Jr. Lecture
2015 American Association for the Advancement of Science (AAAS): Fellow of the American Association for the Advancement of Science
2015 Boston University School of Public Health: Faculty Career Award in Research and Scholarship
2014 Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Senior Leadership Award
2013 American Statistical Association: Fellow of the American Statistical Association
In addition to these self-described keywords below, a list of MeSH based concepts is available here.

Statistical Genetics
Type-2 Diabetes
Machine Learning
Gene-Environment Interactions

I am an adjunct Professor of Biostatistics at the School of Public Health. I have been a mentor to over 35 students, post-doctoral and junior faculty trainees on research projects, and I have mentored many students, fellows and faculty in career development. I have also served as a mentor for the early-career faculty development program. I was fortunate to have outstanding and influential mentors throughout my career, and I strongly believe in "paying it forward" by providing the kind of mentoring that I was fortunate to receive.

My research expertise is statistical genetics, with special emphasis on the development and implementation of new statistical approaches for rare variant analysis, gene by environment evaluation and meta-analysis, with a focus on the analysis of family data. These new methods have been applied to multiple disease areas, such as type-2 diabetes and related traits, pulmonary functions and inflammation biomarkers, in order to elucidate the genetic architecture of these traits.

Available to Mentor as: (Review Mentor Role Definitions):
  • Career Mentor
  • Project Mentor
  • Research / Scholarly Mentor
Contact for Mentoring:
  • Email (see 'Contact Info')

801 Massachusetts Ave Crosstown Center
Boston MA 02118
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