Anita DeStefano
Profiles

Anita L DeStefano, PhD

Professor, Biostatistics - Boston University School of Public Health

617-358-2697
adestef@bu.edu
Crosstown Center - 314
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Biography

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".

Other Positions

  • Investigator - Framingham Heart Study
  • - Boston Medical Center
  • Member, Genome Science Institute - Boston University

Education

  • Cornell University, PhD Field of Study: Animal Breeding/Biometry
  • Virginia Polytechnic Institute and State University, MS Field of Study: Dairy Science
  • Cornell University, BS Field of Study: Veterinary Science

Websites

Publications

  • Published on 3/14/2025

    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. PMID: 40084664.

     Read At: PubMed
  • Published on 2/21/2025

    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. PMID: 39984543.

     Read At: PubMed
  • Published on 12/4/2024

    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. 2024 Dec 04. PMID: 39633006.

     Read At: PubMed
  • Published on 10/20/2024

    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. PMID: 39428839.

     Read At: PubMed
  • Published on 9/18/2024

    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. PMID: 39291752.

     Read At: PubMed
  • Published on 6/12/2024

    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. PMID: 38903089.

     Read At: PubMed
  • Published on 3/21/2024

    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. PMID: 38511601.

     Read At: PubMed
  • Published on 1/23/2024

    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. PMID: 38263370.

     Read At: PubMed
  • Published on 11/7/2023

    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. PMID: 37933827.

     Read At: PubMed
  • Published on 10/25/2023

    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. PMID: 37961373.

     Read At: PubMed

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