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

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




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.

Associate Professor
Boston University School of Medicine
Neurology


Investigator
Framingham Heart Study


Boston Medical Center


Member
Boston University
Genome Science Institute




Assessing Alzheimer disease risk and heterogeneity using multimodal machine learning approaches
09/15/2021 - 08/31/2025 (Multi-PI)
PI: Anita L. DeStefano, PhD
NIH/National Institute on Aging
1U01AG068221-01A1

Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches
09/30/2018 - 08/31/2023 (PI)
NIH/National Institute on Aging
3U01AG058589-04S1

Boston University Summer Institute for Research Education in Biostatistics
03/15/2019 - 02/28/2023 (PI)
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

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 (Co-Investigator)
PI: Lisa M. Sullivan, PhD
NIH/National Heart, Lung, and Blood Institute
5T15HL097791-06

Boston University Summer Institute in Biostatistics
08/20/2009 - 02/28/2013 (Co-Investigator)
PI: Lisa M. Sullivan, PhD
NIH/National Heart, Lung, and Blood Institute
5T15HL097791-03

Beowulf LINUX Cluster Computer
06/01/2003 - 05/31/2004 (PI)
NIH/National Center for Health Research Resources
1 S10 RR16736 01A1



Title


Yr Title Project-Sub Proj Pubs
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 3U01AG058589-03S1 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 3U01AG058589-04S1 2
2020 Boston University Summer Institute for Research Education in Biostatistics 5R25HL147221-02
2020 Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches 5U01AG058589-03 2
2019 Boston University Summer Institute for Research Education in Biostatistics 1R25HL147221-01
2019 Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches 5U01AG058589-02 2
2018 Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches 1U01AG058589-01A1 2
Showing 10 of 24 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. Sarnowski C, Ghanbari M, Bis JC, Logue M, Fornage M, Mishra A, Ahmad S, Beiser AS, Boerwinkle E, Bouteloup V, Chouraki V, Cupples LA, Damotte V, DeCarli CS, DeStefano AL, Djoussé L, Fohner AE, Franz CE, Kautz TF, Lambert JC, Lyons MJ, Mosley TH, Mukamal KJ, Pase MP, Portilla Fernandez EC, Rissman RA, Satizabal CL, Vasan RS, Yaqub A, Debette S, Dufouil C, Launer LJ, Kremen WS, Longstreth WT, Ikram MA, Seshadri S. Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels. Commun Biol. 2022 Apr 08; 5(1):336.View Related Profiles. PMID: 35396452; PMCID: PMC8993877; DOI: 10.1038/s42003-022-03287-y;
     
  2. Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M, Diehl-Schmid J, Diez-Fairen M, Rossi PD, Djurovic S, Duron E, Düzel E, Dufouil C, Eiriksdottir G, Engelborghs S, Escott-Price V, Espinosa A, Ewers M, Faber KM, Fabrizio T, Nielsen SF, Fardo DW, Farotti L, Fenoglio C, Fernández-Fuertes M, Ferrari R, Ferreira CB, Ferri E, Fin B, Fischer P, Fladby T, Fließbach K, Fongang B, Fornage M, Fortea J, Foroud TM, Fostinelli S, Fox NC, Franco-Macías E, Bullido MJ, Frank-García A, Froelich L, Fulton-Howard B, Galimberti D, García-Alberca JM, García-González P, Garcia-Madrona S, Garcia-Ribas G, Ghidoni R, Giegling I, Giorgio G, Goate AM, Goldhardt O, Gomez-Fonseca D, González-Pérez A, Graff C, Grande G, Green E, Grimmer T, Grünblatt E, Grunin M, Gudnason V, Guetta-Baranes T, Haapasalo A, Hadjigeorgiou G, Haines JL, Hamilton-Nelson KL, Hampel H, Hanon O, Hardy J, Hartmann AM, Hausner L, Harwood J, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernández I, Herrmann MJ, Hoffmann P, Holmes C, Holstege H, Vilas RH, Hulsman M, Humphrey J, Biessels GJ, Jian X, Johansson C, Jun GR, Kastumata Y, Kauwe J, Kehoe PG, Kilander L, Ståhlbom AK, Kivipelto M, Koivisto A, Kornhuber J, Kosmidis MH, Kukull WA, Kuksa PP, Kunkle BW, Kuzma AB, Lage C, Laukka EJ, Launer L, Lauria A, Lee CY, Lehtisalo J, Lerch O, Lleó A, Longstreth W, Lopez O, de Munain AL, Love S, Löwemark M, Luckcuck L, Lunetta KL, Ma Y, Macías J, MacLeod CA, Maier W, Mangialasche F, Spallazzi M, Marquié M, Marshall R, Martin ER, Montes AM, Rodríguez CM, Masullo C, Mayeux R, Mead S, Mecocci P, Medina M, Meggy A, Mehrabian S, Mendoza S, Menéndez-González M, Mir P, Moebus S, Mol M, Molina-Porcel L, Montrreal L, Morelli L, Moreno F, Morgan K, Mosley T, Nöthen MM, Muchnik C, Mukherjee S, Nacmias B, Ngandu T, Nicolas G, Nordestgaard BG, Olaso R, Orellana A, Orsini M, Ortega G, Padovani A, Paolo C, Papenberg G, Parnetti L, Pasquier F, Pastor P, Peloso G, Pérez-Cordón A, Pérez-Tur J, Pericard P, Peters O, Pijnenburg YAL, Pineda JA, Piñol-Ripoll G, Pisanu C, Polak T, Popp J, Posthuma D, Priller J, Puerta R, Quenez O, Quintela I, Thomassen JQ, Rábano A, Rainero I, Rajabli F, Ramakers I, Real LM, Reinders MJT, Reitz C, Reyes-Dumeyer D, Ridge P, Riedel-Heller S, Riederer P, Roberto N, Rodriguez-Rodriguez E, Rongve A, Allende IR, Rosende-Roca M, Royo JL, Rubino E, Rujescu D, Sáez ME, Sakka P, Saltvedt I, Sanabria Á, Sánchez-Arjona MB, Sanchez-Garcia F, Juan PS, Sánchez-Valle R, Sando SB, Sarnowski C, Satizabal CL, Scamosci M, Scarmeas N, Scarpini E, Scheltens P, Scherbaum N, Scherer M, Schmid M, Schneider A, Schott JM, Selbæk G, Seripa D, Serrano M, Sha J, Shadrin AA, Skrobot O, Slifer S, Snijders GJL, Soininen H, Solfrizzi V, Solomon A, Song Y, Sorbi S, Sotolongo-Grau O, Spalletta G, Spottke A, Squassina A, Stordal E, Tartan JP, Tárraga L, Tesí N, Thalamuthu A, Thomas T, et al. NewView Related Profiles. PMID: 35379992; DOI: 10.1038/s41588-022-01024-z;
     
  3. Wang Y, Chen H, Peloso GM, Meigs JB, Beiser AS, Seshadri S, DeStefano AL, Dupuis J. Family history aggregation unit-based tests to detect rare genetic variant associations with application to the Framingham Heart Study. Am J Hum Genet. 2022 Apr 07; 109(4):738-749.View Related Profiles. PMID: 35316615
     
  4. Xue D, Bush WS, Renton AE, Marcora EA, Bis JC, Kunkle BW, Boerwinkle E, DeStefano AL, Farrer L, Goate A, Mayeux R, Pericak-Vance M, Schellenberg G, Seshadri S, Wijsman E, Haines JL, Blue EE. Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease. Alzheimers Dement (Amst). 2021; 13(1):e12255.View Related Profiles. PMID: 35005195; PMCID: PMC8720139; DOI: 10.1002/dad2.12255;
     
  5. Wang Y, Chen H, Peloso GM, DeStefano AL, Dupuis J. Exploiting family history in aggregation unit-based genetic association tests. Eur J Hum Genet. 2021 Oct 25.View Related Profiles. PMID: 34690355
     
  6. de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa D, Grünblatt E, Dardiotis E, Düzel E, Scarpini E, Conti E, Rubino E, Gelpi E, Rodriguez-Rodriguez E, Duron E, Boerwinkle E, Ferri E, Tagliavini F, Küçükali F, Pasquier F, Sanchez-Garcia F, Mangialasche F, Jessen F, Nicolas G, Selbæk G, Ortega G, Chêne G, Hadjigeorgiou G, Rossi G, Spalletta G, Giaccone G, Grande G, Binetti G, Papenberg G, Hampel H, Bailly H, Zetterberg H, Soininen H, Karlsson IK, Alvarez I, Appollonio I, Giegling I, Skoog I, Saltvedt I, Rainero I, Rosas Allende I, Hort J, Diehl-Schmid J, Van Dongen J, Vidal JS, Lehtisalo J, Wiltfang J, Thomassen JQ, Kornhuber J, Haines JL, Vogelgsang J, Pineda JA, Fortea J, Popp J, Deckert J, Buerger K, Morgan K, Fließbach K, Sleegers K, Molina-Porcel L, Kilander L, Weinhold L, Farrer LA, Wang LS, Kleineidam L, Farotti L, Parnetti L, Tremolizzo L, Hausner L, Benussi L, Froelich L, Ikram MA, Deniz-Naranjo MC, Tsolaki M, Rosende-Roca M, Löwenmark M, Hulsman M, Spallazzi M, Pericak-Vance MA, Esiri M, Bernal Sánchez-Arjona M, Dalmasso MC, Martínez-Larrad MT, Arcaro M, Nöthen MM, Fernández-Fuertes M, Dichgans M, Ingelsson M, Herrmann MJ, Scherer M, Vyhnalek M, Kosmidis MH, Yannakoulia M, Schmid M, Ewers M, Heneka MT, Wagner M, Scamosci M, Kivipelto M, Hiltunen M, Zulaica M, Alegret M, Fornage M, Roberto N, van Schoor NM, Seidu NM, Banaj N, Armstrong NJ, Scarmeas N, Scherbaum N, Goldhardt O, Hanon O, Peters O, Skrobot OA, Quenez O, Lerch O, Bossù P, Caffarra P, Dionigi Rossi P, Sakka P, Hoffmann P, Holmans PA, Fischer P, Riederer P, Yang Q, Marshall R, Kalaria RN, Mayeux R, Vandenberghe R, Cecchetti R, Ghidoni R, Frikke-Schmidt R, Sorbi S, Hägg S, Engelborghs S, Helisalmi S, Botne Sando S, Kern S, Archetti S, Boschi S, Fostinelli S, Gil S, Mendoza S, Mead S, Ciccone S, Djurovic S, Heilmann-Heimbach S, Riedel-Heller S, Kuulasmaa T, Del Ser T, Lebouvier T, Polak T, Ngandu T, Grimmer T, Bessi V, Escott-Price V, Giedraitis V, Deramecourt V, Maier W, Jian X, Pijnenburg YAL, Kehoe PG, Garcia-Ribas G, Sánchez-Juan P, Pastor P, Pérez-Tur J, Piñol-Ripoll G, Lopez de Munain A, García-Alberca JM, Bullido MJ, Álvarez V, Lleó A, Real LM, Mir P, Medina M, Scheltens P, Holstege H, Marquié M, Sáez ME, Carracedo Á, Amouyel P, Schellenberg GD, Williams J, Seshadri S, van Duijn CM, Mather KA, Sánchez-Valle R, Serrano-Ríos M, Orellana A, Tárraga L, Blennow K, Huisman M, Andreassen OA, Posthuma D, Clarimón J, Boada M, van der Flier WM, Ramirez A, Lambert JC, van der Lee SJ, Ruiz A. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2021 06 07; 12(1):3417.View Related Profiles. PMID: 34099642; PMCID: PMC8184987; DOI: 10.1038/s41467-021-22491-8;
     
  7. Damotte V, van der Lee SJ, Chouraki V, Grenier-Boley B, Simino J, Adams H, Tosto G, White C, Terzikhan N, Cruchaga C, Knol MJ, Li S, Schraen S, Grove ML, Satizabal C, Amin N, Berr C, Younkin S, Gottesman RF, Buée L, Beiser A, Knopman DS, Uitterlinden A, DeCarli C, Bressler J, DeStefano A, Dartigues JF, Yang Q, Boerwinkle E, Tzourio C, Fornage M, Ikram MA, Amouyel P, de Jager P, Reitz C, Mosley TH, Lambert JC, Seshadri S, van Duijn CM. Plasma amyloid ß levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants. Alzheimers Dement. 2021 10; 17(10):1663-1674.View Related Profiles. PMID: 34002480; PMCID: PMC8597077; DOI: 10.1002/alz.12333;
     
  8. Madrid L, Moreno-Grau S, Ahmad S, González-Pérez A, de Rojas I, Xia R, Martino Adami PV, García-González P, Kleineidam L, Yang Q, Damotte V, Bis JC, Noguera-Perea F, Bellenguez C, Jian X, Marín-Muñoz J, Grenier-Boley B, Orellana A, Ikram MA, Amouyel P, Satizabal CL, Real LM, Antúnez-Almagro C, DeStefano A, Cabrera-Socorro A, Sims R, Van Duijn CM, Boerwinkle E, Ramírez A, Fornage M, Lambert JC, Williams J, Seshadri S, Ried JS, Ruiz A, Saez ME. Multiomics integrative analysis identifies APOE allele-specific blood biomarkers associated to Alzheimer's disease etiopathogenesis. Aging (Albany NY). 2021 Apr 12; 13(7):9277-9329.View Related Profiles. PMID: 33846280; PMCID: PMC8064208; DOI: 10.18632/aging.202950;
     
  9. 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, Cantwell L, 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, Valladares O, Vardarajan B, Wang LS, 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. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2020 Aug; 25(8):1901-1903.View Related Profiles. PMID: 31636380; PMCID: PMC7387240; DOI: 10.1038/s41380-019-0529-7;
     
  10. Peloso GM, Beiser AS, Satizabal CL, Xanthakis V, Vasan RS, Pase MP, Destefano AL, Seshadri S. Cardiovascular health, genetic risk, and risk of dementia in the Framingham Heart Study. Neurology. 2020 09 08; 95(10):e1341-e1350.View Related Profiles. PMID: 32690788; PMCID: PMC7538213; DOI: 10.1212/WNL.0000000000010306;
     
Showing 10 of 159 results. Show More

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

Bar chart showing 159 publications over 29 distinct years, with a maximum of 12 publications in 2014

YearPublications
19911
19952
19964
19972
19982
19995
20003
20014
20022
20037
20043
20058
20062
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20096
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201110
201211
201310
201412
201510
20165
20176
201811
20196
20203
20215
20223

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