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 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.

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
7U01AG068221-02

Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches
09/30/2018 - 08/31/2024 (PI)
NIH/National Institute on Aging
5U01AG058589-05

Boston University Summer Institute for Research Education in Biostatistics
03/15/2019 - 05/31/2022 (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

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 (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

Showing 10 of 11 results. Show All Results


Title


Yr Title Project-Sub Proj Pubs
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
2020 Boston University Summer Institute for Research Education in Biostatistics 5R25HL147221-02
Showing 10 of 28 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 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. 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;
     
  3. 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;
     
  4. 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;
     
  5. 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, 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 over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing Project. medRxiv. 2023 Sep 02.View Related Profiles. PMID: 37693521; PMCID: PMC10491367; DOI: 10.1101/2023.09.01.23294953;
     
  6. 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 Alzheimer's Disease Sequencing Project whole genome sequence data. medRxiv. 2023 Aug 29.View Related Profiles. PMID: 37693453; PMCID: PMC10491364; DOI: 10.1101/2023.08.28.23294631;
     
  7. 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, Mecocci 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. Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2023 Feb 09; 14(1):716.View Related Profiles. PMID: 36759603; PMCID: PMC9911386; DOI: 10.1038/s41467-023-36192-x;
     
  8. Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, Williams J, Nicolas G, Bellenguez C, Lambert JC. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. Nat Genet. 2022 Dec; 54(12):1786-1794.View Related Profiles. PMID: 36411364; PMCID: PMC9729101; DOI: 10.1038/s41588-022-01208-7;
     
  9. 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;
     
  10. 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; PMCID: PMC9005347; DOI: 10.1038/s41588-022-01024-z;
     
Showing 10 of 167 results. Show More

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

Bar chart showing 167 publications over 31 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
20242

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