Anita L. DeStefano, PhD
Professor
Boston University School of Public Health
Biostatistics

PhD, Cornell University
MS, Virginia Polytechnic Institute and State University
BS, Cornell University



Anita L. DeStefano, Ph.D. is Professor of Biostatistics and Neurology and served as Graduate Affair Faculty Fellow for Diversity and Inclusion from 2018-2024. She was an inaugural Associate Director of the BU Genome Science Institute and served in that position from 2008 through 2018. She was Co-Director of the Biostatistics Program, which grants MA and Ph.D degrees in Biostatistics for 10 years. Dr. DeStefano developed a course in Statistical Genetics (BS858), which is taught to MPH, Biostatistics Program, and other graduate students. She was co-PI of the BU Summer Institute for Research Education in Biostatistics (SIBS) program, which strives to introduce a diverse group of students into the vibrant field of Biostatistics. She has taught or served as course coordinator for Introduction to Statistical Computing (BS723) for over 18 years. Dr. DeStefano has been instrumental in developing research computing resources for BUMC. She currently is co-chair of the BU IS&T Research Computing Governance Committee.

Her main research interest is statistical genetics. She was an investigator in the multi-national GenePD study working to identify the genes contributing Parkinson Disease. Dr. DeStefano was a senior statistical geneticist for the Framingham Heart Study focusing on stroke, Alzheimer disease and related endophenotypes including brain MRI measures. She is a key member of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium Neurology working group and of the TOPMed Neurocognitive working group and International Genomics of Alzheimer Disease (IGAP) consortium. She currently leads analyses and serves as co-chair of the QC working group within the Alzheimer Disease Sequencing Project (ADSP). Dr. DeStefano is contact PI for the multi-site NIA U01 project "Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches".

Diversity, Equity, Inclusion and Accessibility

My goal is to have equitable practices at the center of all my activities. In addition to the elements of the BUSPH motto: Think. Teach. Do. For the Health of All, I include Learn. It is essential that I continue to learn and educate myself around diversity, equity, inclusion, justice, and accessibility.

Think. I strive to create an inclusive research environment where all members of my team feel valued. I believe a part of this inclusion is the ability for students and researchers to see themselves in the data being examined. This belief led to, for example, a decades long collaboration with the Jackson Heart Study (JHS), which when established was the largest genetic study of African Americans. The BU Summer Institute for Biostatistics (SIBS) welcomed JHS speakers and used JHS data as part of the curriculum, broadening the exposure of SIBS students to diverse data sets.
Recognition of the focus on white populations within my own research in genetics goes back 25 years (Levy et al 2000; PMID: 11040222). I appreciate the recent emphasis on diverse populations within genetic studies and currently strive to incorporate the concepts from TOPMed (PMID: 36119389) and the NASEM publication “Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field” in my research. I served as the co-chair of the ad hoc committee on Race, Ethnicity and Ancestry for the Alzheimer’s Disease Sequencing Project to help identify best practices for this large project focused on whole genome sequencing in diverse populations related to Alzheimer’s disease.

Teach. I am grateful for the opportunities that have been available to me at BU to learn and to teach related to DEI. In 2018-2019 I participated in the Inclusive Practitioner Cohort, which fostered multiple connections across the university. In 2018 I took on the role as Graduate Affair Faculty Fellow for Diversity and Inclusion, supporting these important issues across all graduate programs at BU. Working with co-fellow Tyrone Porter and then Simone Gill, we developed and implemented programs across three pillars: Pillar 1: Diversify recruitment, Pillar 2: Encourage best practices for admissions, Pillar 3: Build community and positive experience. Under Pillar 1 I coordinated BU exhibitor presence at the Annual Biomedical Research Conference for Minoritized Scientists (ABRCMS) and Society for the Advancement of Chicanos/Hispanics and Native Americans in Science (SACNAS) conferences and participated in virtual recruitment events via Howard University Karsh STEM Scholars program, San Diego State University & the Black Doctoral Network. We also developed and implemented virtual and in-person BU visit programs for prospective PhD applications from populations historically underrepresented in the academy. Much of the work for Pillar 2 on equitable admissions was done in concert with the Equity In Graduate Education (EGE) consortium led by Dr. Julie Posselt. BU participated as a founding EGE consortium partner and I served as one of the BU consortium liaisons. Via the consortium I received facilitator training for two workshops on equitable graduate admissions and have had the pleasure of running them multiple times at BU with co-facilitator Vincent Stephens. It was always a pleasure, as part of Pillar 3, to meet with underrepresented BU graduate students and connect them with each other. And to provide support the BU SACNAS chapter and the UGSO (Underrepresented Graduate Student Organization). I believe it is essential to gain and then share knowledge. After I completed the Inclusive STEM Teaching Project (ISTP) and participated in a BU Learning Community, it was a wonderful experience to partner with Dean Yvette Cozier and twice offer the ISTP to the BU Medical Campus community and co-facilitate the Learning Community with her. I have served as co-chair of the BUSPH Biostatistics DEI committee since its inception in 2019. I currently am the Biostatistics representative on the BUSPH-wide DEIJ committee.

Do. I am grateful for the opportunities provided to me via Chary Ortiz, a long-time BUSPH co-worker and friend to engage with her community that surrounds the BU Medical Campus. In the summers of 2016 through 2019 we implemented a “Celebrate Urban Birds” event at the Blackstone Community Center. Over the four years, these events introduced over 100 campers to science, birding, data visualization (histograms), and greening their community.
https://celebrateurbanbirds.org/community/events/blackstone-community-center-celebrates-urban-birds/
https://www.bu.edu/sph/news/articles/2019/celebrating-urban-birds-science-and-conservation/

Investigator
Framingham Heart Study


Boston Medical Center


Member
Boston University
Genome Science Institute




Assessing Alzheimer disease risk and heterogeneity using machine learning approaches
09/15/2022 - 08/31/2025 (Multi-PI)
PI: Anita L. DeStefano, PhD
University of Massachusetts, Worcester NIH NIA
5U01AG068221-04

Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches
09/30/2018 - 08/31/2025 (PI)
NIH/National Institute on Aging
3U01AG058589-05S1

Boston University Summer Institute for Research Education in Biostatistics
03/15/2019 - 05/31/2022 (Multi-PI)
PI: Anita L. DeStefano, PhD
NIH/National Heart, Lung, and Blood Institute
5R25HL147221-03

ADSP Follow-up in Multi-Ethnic Cohorts via Endophenotypes, Omics & Model Systems
12/01/2017 - 05/31/2022 (Subcontract PI)
University of Texas Health Science Center at San Antonio NIH NIA
5U01AG052409-04

Assessing Alzheimer disease risk and heterogeneity using multimodal machine learning approaches
09/15/2021 - 12/31/2021 (Multi-PI)
PI: Anita L. DeStefano, PhD
NIH/National Institute on Aging
1U01AG068221-01A1

CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample
12/01/2017 - 05/31/2020 (Subcontract PI)
University of Texas Health Science Center at San Antonio NIH NIA
7U01AG049505-05

Boston University Summer Institute for Research Training in Biostatistics
01/15/2016 - 12/31/2019 (Multi-PI)
PI: Anita L. DeStefano, PhD
NIH/National Heart, Lung, and Blood Institute
5R25HL131491-03

Obesity Brain Expression
07/29/2014 - 05/31/2019 (PI)
NIH/National Diabetes & Digestive & Kidney Diseases
5R01DK099269-04

Boston University Summer Institute in Biostatistics
03/01/2013 - 02/28/2016 (Multi-PI)
PI: Anita L. DeStefano, PhD
NIH/National Heart, Lung, and Blood Institute
5T15HL097791-06

Boston University Summer Institute in Biostatistics
08/20/2009 - 02/28/2013 (Multi-PI)
PI: Anita L. DeStefano, PhD
NIH/National Heart, Lung, and Blood Institute
5T15HL097791-03

Showing 10 of 11 results. Show All Results


Title


Yr Title Project-Sub Proj Pubs
2024 Assessing Alzheimer disease risk and heterogeneity using multimodal machine learning approaches 5U01AG068221-04
2023 Assessing Alzheimer disease risk and heterogeneity using multimodal machine learning approaches 5U01AG068221-03
2022 BU Summer Institute for Research Education in Biostatistics and Data Science 1R25AI166897-01
2022 Assessing Alzheimer disease risk and heterogeneity using multimodal machine learning approaches 7U01AG068221-02
2022 Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches 5U01AG058589-05
2021 Assessing Alzheimer disease risk and heterogeneity using multimodal machine learning approaches 1U01AG068221-01A1
2021 Boston University Summer Institute for Research Education in Biostatistics 5R25HL147221-03
2021 Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches 3U01AG058589-04S1 2
2021 Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches 5U01AG058589-04 2
2021 Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches 3U01AG058589-03S1 2
Showing 10 of 29 results. Show All Results

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 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 AM, DeStefano AL, Peloso GM. Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project. J Alzheimers Dis. 2025 Apr; 104(3):841-851.View Related Profiles. PMID: 40084664; DOI: 10.1177/13872877251320375;
      Article has an altmetric score of 7
  2. Wang B, Chibnik LB, Choi SH, Blacker D, DeStefano AL, Lin H. Association of genetic risk of Alzheimer's disease and cognitive function in two European populations. Sci Rep. 2025 Feb 21; 15(1):6410.View Related Profiles. PMID: 39984543; PMCID: PMC11845681; DOI: 10.1038/s41598-025-90277-9;
      Article has an altmetric score of 10
  3. Le Borgne J, Gomez L, Heikkinen S, Amin N, Ahmad S, Choi SH, Bis J, Grenier-Boley B, Rodriguez OG, Kleineidam L, Young J, Tripathi KP, Wang L, Varma A, Campos-Martin R, van der Lee S, Damotte V, de Rojas I, Palmal S, Lipton R, Reiman E, McKee A, De Jager P, Bush W, Small S, Levey A, Saykin A, Foroud T, Albert M, Hyman B, Petersen R, Younkin S, Sano M, Wisniewski T, Vassar R, Schneider J, Henderson V, Roberson E, DeCarli C, LaFerla F, Brewer J, Swerdlow R, Van Eldik L, Hamilton-Nelson K, Paulson H, Naj A, Lopez O, Chui H, Crane P, Grabowski T, Kukull W, Asthana S, Craft S, Strittmatter S, Cruchaga C, Leverenz J, Goate A, Kamboh MI, George-Hyslop PS, Valladares O, Kuzma A, Cantwell L, Riemenschneider M, Morris J, Slifer S, Dalmasso C, Castillo A, Küçükali F, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Thomassen JQ, Pijnenburg YAL, Holstege H, van Swieten J, Ramakers I, Verhey F, Scheltens P, Graff C, Papenberg G, Giedraitis V, Boland A, Deleuze JF, Nicolas G, Dufouil C, Pasquier F, Hanon O, Debette S, Grünblatt E, Popp J, Ghidoni R, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Nacmias B, Spallazzi M, Seripa D, Rainero I, Daniele A, Bossù P, Masullo C, Rossi G, Jessen F, Fernandez V, Kehoe PG, Frikke-Schmidt R, Tsolaki M, Sánchez-Juan P, Sleegers K, Ingelsson M, Haines J, Farrer L, Mayeux R, Wang LS, Sims R, DeStefano A, Schellenberg GD, Seshadri S, Amouyel P, Williams J, van der Flier W, Ramirez A, Pericak-Vance M, Andreassen OA, Van Duijn C, Hiltunen M, Ruiz A, Dupuis J, Martin E, Lambert JC, Kunkle B, Bellenguez C. X-chromosome-wide association study for Alzheimer's disease. Mol Psychiatry. 2025 Jun; 30(6):2335-2346.View Related Profiles. PMID: 39633006
      Article has an altmetric score of 87
  4. Lee WP, Choi SH, Shea MG, Cheng PL, Dombroski BA, Pitsillides AN, Heard-Costa NL, Wang H, Bulekova K, Kuzma AB, Leung YY, Farrell JJ, Lin H, Kunkle BW, Naj A, Blue EE, Nusetor F, Wang D, Boerwinkle E, Bush WS, Zhang X, De Jager PL, Dupuis J, Farrer LA, Fornage M, Martin E, Pericak-Vance M, Seshadri S, Wijsman EM, Wang LS, Schellenberg GD, Destefano AL, Haines JL, Peloso GM. Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project. Alzheimers Dement. 2024 Dec; 20(12):8470-8483.View Related Profiles. PMID: 39428839; PMCID: PMC11667527; DOI: 10.1002/alz.14283;
     
  5. Krüger DM, Pena-Centeno T, Liu S, Park T, Kaurani L, Pradhan R, Huang YN, Risacher SL, Burkhardt S, Schütz AL, Wan Y, Shaw LM, Brodsky AS, DeStefano AL, Lin H, Schroeder R, Krunic A, Hempel N, Sananbenesi F, Blusztajn JK, Saykin AJ, Delalle I, Nho K, Fischer A. The plasma miRNAome in ADNI: Signatures to aid the detection of at-risk individuals. Alzheimers Dement. 2024 Nov; 20(11):7479-7494.View Related Profiles. PMID: 39291752; PMCID: PMC11567822; DOI: 10.1002/alz.14157;
      Article has an altmetric score of 175
  6. Xu H, Gupta S, Dinsmore I, Kollu A, Cawley AM, Anwar MY, Chen HH, Petty LE, Seshadri S, Graff M, Below P, Brody JA, Chittoor G, Fisher-Hoch SP, Heard-Costa NL, Levy D, Lin H, Loos RJ, Mccormick JB, Rotter JI, Mirshahi T, Still CD, Destefano A, Cupples LA, Mohlke KL, North KE, Justice AE, Liu CT. Integrating Genetic and Transcriptomic Data to Identify Genes Underlying Obesity Risk Loci. medRxiv. 2024 Jun 12.View Related Profiles. PMID: 38903089; PMCID: PMC11188121; DOI: 10.1101/2024.06.11.24308730;
      Article has an altmetric score of 1
  7. 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 May; 20(5):3290-3304.View Related Profiles. PMID: 38511601; PMCID: PMC11095439; DOI: 10.1002/alz.13705;
      Article has an altmetric score of 176
  8. Leung YY, Naj AC, Chou YF, Valladares O, Schmidt M, Hamilton-Nelson K, Wheeler N, Lin H, Gangadharan P, Qu L, Clark K, Kuzma AB, Lee WP, Cantwell L, Nicaretta H, Haines J, Farrer L, Seshadri S, Brkanac Z, Cruchaga C, Pericak-Vance M, Mayeux RP, Bush WS, Destefano A, Martin E, Schellenberg GD, Wang LS. Human whole-exome genotype data for Alzheimer's disease. Nat Commun. 2024 Jan 23; 15(1):684.View Related Profiles. PMID: 38263370; PMCID: PMC10805795; DOI: 10.1038/s41467-024-44781-7;
      Article has an altmetric score of 11
  9. Lary CW, Ghatan S, Gerety M, Hinton A, Nagarajan A, Rosen C, Ross RD, Bennett DA, DeStefano AL, Ikram MA, Rivadeneira F, Kiel DP, Seshadri S, Beiser A. Bone mineral density and the risk of incident dementia: A meta-analysis. J Am Geriatr Soc. 2024 Jan; 72(1):194-200.View Related Profiles. PMID: 37933827; PMCID: PMC10829515; DOI: 10.1111/jgs.18638;
      Article has an altmetric score of 2
  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;
      Article has an altmetric score of 1
Showing 10 of 173 results. Show More

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

Bar chart showing 173 publications over 32 distinct years, with a maximum of 12 publications in 2014

YearPublications
19911
19952
19964
19972
19982
19995
20003
20014
20022
20037
20043
20058
20062
20077
20085
20096
20104
201110
201211
201310
201412
201510
20165
20176
201811
20196
20203
20215
20224
20235
20246
20252
Contact for Mentoring:

801 Massachusetts Ave Crosstown Center
Boston MA 02118
Google Map


DeStefano's Networks
Click the "See All" links for more information and interactive visualizations
Concepts
_
Media Mentions
_
Co-Authors
_
Similar People
_
Same Department