Anita L. DeStefano, PhD

Professor, Biostatistics

Anita DeStefano
617.638.5172
801 Massachusetts Ave Crosstown Center

Biography

Anita L. DeStefano, Ph.D. is Professor of Biostatistics and Neurology and Graduate Affair Faculty Fellow for Diversity and Inclusion. 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 and is current Director of the Graduate Certificate Program in Statistical Genetics. Dr. DeStefano developed a course in Statistical Genetics (BS858), which is taught to MPH, Biostatistics Program, and other graduate students. She is also 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 is also 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”. She also leads an RNA sequencing project in human post-mortem brain tissue focused on long-term obesity status prior to death.

Other Positions

  • Associate Professor, Neurology, Boston University School of Medicine
  • Boston Medical Center
  • Framingham Heart Study

Education

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

Publications

  • Published on 2/28/2019

    Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roschupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing. Nat Genet. 2019 03; 51(3):414-430. PMID: 30820047.

    Read at: PubMed
  • Published on 1/16/2019

    Chauhan G, Adams HHH, Satizabal CL, Bis JC, Teumer A, Sargurupremraj M, Hofer E, Trompet S, Hilal S, Smith AV, Jian X, Malik R, Traylor M, Pulit SL, Amouyel P, Mazoyer B, Zhu YC, Kaffashian S, Schilling S, Beecham GW, Montine TJ, Schellenberg GD, Kjartansson O, Guðnason V, Knopman DS, Griswold ME, Windham BG, Gottesman RF, Mosley TH, Schmidt R, Saba Y, Schmidt H, Takeuchi F, Yamaguchi S, Nabika T, Kato N, Rajan KB, Aggarwal NT, De Jager PL, Evans DA, Psaty BM, Rotter JI, Rice K, Lopez OL, Liao J, Chen C, Cheng CY, Wong TY, Ikram MK, van der Lee SJ, Amin N, Chouraki V, DeStefano AL, Aparicio HJ, Romero JR, Maillard P, DeCarli C, Wardlaw JM, Hernández MDCV, Luciano M, Liewald D, Deary IJ, Starr JM, Bastin ME, Muñoz Maniega S, Slagboom PE, Beekman M, Deelen J, Uh HW, Lemmens R, Brodaty H, Wright MJ, Ames D, Boncoraglio GB, Hopewell JC, Beecham AH, Blanton SH, Wright CB, Sacco RL, Wen W, Thalamuthu A, Armstrong NJ, Chong E, Schofield PR, Kwok JB, van der Grond J, Stott DJ, Ford I, Jukema JW, Vernooij MW, Hofman A, Uitterlinden AG, van der Lugt A, Wittfeld K, Grabe HJ, Hosten N, von Sarnowski B, Völker U, Levi C, Jimenez-Conde J, Sharma P, Sudlow CLM, Rosand J, Woo D, Cole JW, Meschia JF, Slowik A, Thijs V, Lindgren A, Melander O, Grewal RP, Rundek T, Rexrode K, Rothwell PM, Arnett DK, Jern C, Johnson JA, Benavente OR, Wasssertheil-Smoller S, Lee JM, Wong Q, Mitchell BD, Rich SS, McArdle PF, Geerlings MI, van der Graaf Y, de Bakker PIW, Asselbergs FW, Srikanth V, Thomson R, McWhirter R, Moran C, Callisaya M, Phan T, Rutten-Jacobs LCA, Bevan S, Tzourio C, Mather KA, Sachdev PS, van Duijn CM, Worrall BB, Dichgans M, Kittner SJ, Markus HS, Ikram MA, Fornage M, Launer LJ, Seshadri S, Longstreth WT, Debette S. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting. Neurology. 2019 Jan 16. PMID: 30651383.

    Read at: PubMed
  • Published on 11/21/2018

    Beecham GW, Vardarajan B, Blue E, Bush W, Jaworski J, Barral S, DeStefano A, Hamilton-Nelson K, Kunkle B, Martin ER, Naj A, Rajabli F, Reitz C, Thornton T, van Duijn C, Goate A, Seshadri S, Farrer LA, Boerwinkle E, Schellenberg G, Haines JL, Wijsman E, Mayeux R, Pericak-Vance MA. Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease. Neurol Genet. 2018 Dec; 4(6):e286. PMID: 30569016.

    Read at: PubMed
  • Published on 9/22/2018

    Peloso GM, van der Lee SJ, Destefano AL, Seshardi S. Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease. Alzheimers Dement (Amst). 2018; 10:595-598. PMID: 30422133.

    Read at: PubMed
  • Published on 9/17/2018

    Lim E, Xu H, Wu P, Posner D, Wu J, Peloso GM, Pitsillides AN, DeStefano AL, Adrienne Cupples L, Liu CT. Network analysis of drug effect on triglyceride-associated DNA methylation. BMC Proc. 2018; 12(Suppl 9):27. PMID: 30275881.

    Read at: PubMed
  • Published on 9/17/2018

    Wang B, DeStefano AL, Lin H. Integrative methylation score to identify epigenetic modifications associated with lipid changes resulting from fenofibrate treatment in families. BMC Proc. 2018; 12(Suppl 9):28. PMID: 30275882.

    Read at: PubMed
  • Published on 8/14/2018

    Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Vardarajan B, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2018 Aug 14. PMID: 30108311.

    Read at: PubMed
  • Published on 8/1/2018

    Jian X, Satizabal CL, Smith AV, Wittfeld K, Bis JC, Smith JA, Hsu FC, Nho K, Hofer E, Hagenaars SP, Nyquist PA, Mishra A, Adams HHH, Li S, Teumer A, Zhao W, Freedman BI, Saba Y, Yanek LR, Chauhan G, van Buchem MA, Cushman M, Royle NA, Bryan RN, Niessen WJ, Windham BG, DeStefano AL, Habes M, Heckbert SR, Palmer ND, Lewis CE, Eiriksdottir G, Maillard P, Mathias RA, Homuth G, Valdés-Hernández MDC, Divers J, Beiser AS, Langner S, Rice KM, Bastin ME, Yang Q, Maldjian JA, Starr JM, Sidney S, Risacher SL, Uitterlinden AG, Gudnason VG, Nauck M, Rotter JI, Schreiner PJ, Boerwinkle E, van Duijn CM, Mazoyer B, von Sarnowski B, Gottesman RF, Levy D, Sigurdsson S, Vernooij MW, Turner ST, Schmidt R, Wardlaw JM, Psaty BM, Mosley TH, DeCarli CS, Saykin AJ, Bowden DW, Becker DM, Deary IJ, Schmidt H, Kardia SLR, Ikram MA, Debette S, Grabe HJ, Longstreth WT, Seshadri S, Launer LJ, Fornage M. Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging. Stroke. 2018 Aug; 49(8):1812-1819. PMID: 30002152.

    Read at: PubMed
  • Published on 5/29/2018

    Naj AC, Lin H, Vardarajan BN, White S, Lancour D, Ma Y, Schmidt M, Sun F, Butkiewicz M, Bush WS, Kunkle BW, Malamon J, Amin N, Choi SH, Hamilton-Nelson KL, van der Lee SJ, Gupta N, Koboldt DC, Saad M, Wang B, Nato AQ, Sohi HK, Kuzma A, Wang LS, Adrienne Cupples L, van Duijn C, Seshadri S, Schellenberg GD, Boerwinkle E, Bis JC, Dupuis J, Salerno WJ, Wijsman EM, Martin ER, DeStefano AL. Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project. Genomics. 2018 May 29. PMID: 29857119.

    Read at: PubMed
  • Published on 3/13/2018

    Vardarajan BN, Barral S, Jaworski J, Beecham GW, Blue E, Tosto G, Reyes-Dumeyer D, Medrano M, Lantigua R, Naj A, Thornton T, DeStefano A, Martin E, Wang LS, Brown L, Bush W, van Duijn C, Goate A, Farrer L, Haines JL, Boerwinkle E, Schellenberg G, Wijsman E, Pericak-Vance MA, Mayeux R, Wang LS. Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease. Ann Clin Transl Neurol. 2018 Apr; 5(4):406-417. PMID: 29688227.

    Read at: PubMed

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