Lindsay A. Farrer PhD
Section Chief, Biomedical Genetics
Boston University Distinguished Professor of Genetics, Biomedical Genetics
72 E. Concord Street | (617) 638-5393farrer@bu.edu

Sections
Biomedical Genetics
Centers
Framingham Heart Study
Evans Center for Interdisciplinary Biomedical Research
Biography
Dr. Lindsay Farrer is a medical geneticist at Boston University Schools of Medicine and Public Health where he is the Chobanian and Avedisian School of Medicine Distinguished Professor of Genetics, Chief of Biomedical Genetics, and a Professor of Medicine, Neurology, Ophthalmology, Epidemiology, and Biostatistics. Dr. Farrer is a graduate of the University of North Carolina in Chapel Hill, received his Ph.D. from the Indiana University School of Medicine, and gained additional training in genetic epidemiology at Yale University. He holds adjunct faculty positions at Harvard Medical School, Massachusetts General Hospital, and the Veterans Administration Medical Center in Bedford, Massachusetts. He is a Founding Fellow of the American College of Medical Genetics. Dr. Farrer teaches several courses in human genetics and addiction science at Boston University, directs the BU Transformative Training Program in Addiction Science (TTPAS) that features transdisciplinary training for students enrolled in PhD programs across the Medical and Charles River campuses, directs Boston University’s Molecular Genetics Core Facility which offers DNA genotyping and sequencing services to investigators at Boston University and elsewhere, and provides genetic counseling and testing to patients with a variety of inherited conditions.
Dr. Farrer’s research has lead to more than 450 publications on genetic risk factors for several familial neurodegenerative and other chronic diseases. In collaboration with other laboratories worldwide, his group has localized genes causing a variety of rare and common disorders, most notably Alzheimer disease (AD), substance use disorders (SUDs), age-related macular degeneration (AMD), Wilson disease, Machado-Joseph disease, Waardenburg syndrome, hypertension, sensorineural deafness, and osteoarthritis. His group identified a functional genetic variant in the complement factor H gene which accounts for more than 30% of the attributable risk for AMD, the leading cause of progressive vision loss and blindness in the elderly. In collaboration with other researchers, Dr. Farrer is conducting genome wide association studies (GWAS) and whole genome/exome sequencing studies for several disorders including AD, SUDs (cocaine, opiates, nicotine, alcohol and cannabis), and AMD. Dr. Farrer’s team is also developing methods for locating genes that influence the natural history of complex diseases and pharmacogenetic response.
Under Dr. Farrer’s leadership, the MIRAGE Project, a multi-center study of AD funded since 1991 by the National Institute on Aging, has made several important contributions to our understanding of the interactions between genetic and environmental factors for the disorder. This study has a particular emphasis on the genetics of AD in African Americans. MIRAGE was the first study to demonstrate that genetic factors have a major role in the development of AD and that APOE e4 is more weakly associated with disease in men and persons older than 75 years. Dr. Farrer co-directed the international effort which demonstrated that SORL1 is genetically and functionally associated with AD, thus implicating intracellular protein trafficking as integral pathway in AD. His laboratory conducted genome wide association studies (GWAS) for AD in several populations including African Americans and an inbred Israeli-Arab community, and identified rare AD causal mutations in the AKAP9 gene which are specific to African Americans. Dr. Farrer serves on the Executive Committee of the national Alzheimer Disease Genetics Consortium and co-directs the data analysis effort for this large NIH-funded project. He is also a Principal Investigator of the national Alzheimer Disease Sequencing Project and a study to identify AD risk and protective variants in Koreans. in 2020, Dr. Farrer co-founded the Framingham Heart Study Brain Aging Program (FHS-BAP), an NIH-funded infrastructure program that continues surveillance of FHS participants for cognitive decline and dementia, conducts neuropsychological and brain MRI exams, houses the FHS brain tissue repository, and conducts several projects utilizing genetics, various omics, and wealth of phenotype data on FHS participants to develop predictive models, identify biomarkers and discern vascular and inflammatory processes leading to AD.
Other Positions
Education
Genetics & Genomics, PhD, Indiana University School of Medicine
Genetics & Genomics, BA, University of North Carolina at Chapel Hill
Publications
Alosco ML, Morrison M, Au R, Steinberg EG, Mwicigi J, Ly M, Altaras C, Lenio S, Abdennadher M, O'Connor MK, Tripodis Y, Palmisano J, Dixon D, Martin B, Schneider G, Groh JR, Ellison A, Sheppard D, Farris CW, Nowinski C, Cantu RC, Turk KW, Farrer L, Jun G, Goldstein LE, Qiu WQ, Stein TD, Budson AE, McKee AC, Mez J. Boston University Alzheimer's Disease Research Center Clinical Core: Infrastructure to facilitate research on post-traumatic Alzheimer's disease and related dementias. Alzheimers Dement. 2025 Sep; 21(9):e70654. PMID: 40923312.
Published on 9/1/2025Kang M, Ang TFA, Devine SA, Sherva R, Mukherjee S, Trittschuh EH, Scollard P, Lee M, Choi SE, Klinedinst B, Nakano C, Dumitrescu LC, Hohman TJ, Cuccaro ML, Saykin AJ, Kukull WA, Bennett DA, Wang LS, Mayeux RP, Haines JL, Pericak-Vance MA, Schellenberg GD, Crane PK, Au R, Lunetta KL, Mez J, Farrer LA. Genome-wide pleiotropy analysis of longitudinal blood pressure and harmonized cognitive performance measures. Alzheimers Dement. 2025 Sep; 21(9):e70681. PMID: 40951946.
Published on 8/19/2025Huang J, Wang Y, Stein TD, Ang TFA, Zhu Y, Tao Q, Lunetta KL, Mez J, Au R, Farrer LA, Qiu WQ, Zhang X. The impact of blood MCP-1 levels on Alzheimer's disease with genetic variation at the NAV3 and UNC5C loci. Transl Psychiatry. 2025 Aug 19; 15(1):296. PMID: 40830334.
Published on 8/1/2025Phillips JM, Dumitrescu LC, Archer DB, Regelson AN, Mukherjee S, Lee ML, Choi SE, Scollard P, Trittschuh EH, Kukull WA, Biber S, Mez J, Mahoney ER, Clifton M, Libby JB, Walters S, Bush WS, Engelman CD, Lu Q, Fardo DW, Widaman KF, Buckley RF, Mormino EC, Sanders RE, Clark LR, Gifford KA, Vardarajan B, Cuccaro ML, Pericak-Vance MA, Farrer LA, Wang LS, Schellenberg GD, Haines JL, Jefferson AL, Johnson SC, Albert MS, Keene CD, Saykin AJ, Risacher SL, Larson EB, Sperling RA, Mayeux R, Goate AM, Renton AE, Marcora E, Fulton-Howard B, Patel T, Bennett DA, Schneider JA, Barnes LL, Cruchaga C, Hassenstab J, Belloy ME, Andrews SJ, Resnick SM, Bilgel M, An Y, Beason-Held LL, Walker KA, Duggan MR, Klinedinst BS, Crane PK, Hohman TJ. Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer's disease. Brain. 2025 Aug 01; 148(8):2714-2729. PMID: 40111762.
Published on 7/24/2025Sherva R, Zhu C, Zhang R, Mez J, Hauger R, Merritt VC, Panizzon M, Gaziano JM, Catanzaro V, Schellenberg GD, Pericak-Vance M, Haines JL, Wang LS, Mayeux R, Farrer LA, Logue MW. Genome-wide association studies of Alzheimer's disease and related disorders stratified by sex, onset age, and Apolipoprotein E genotype reveal novel risk loci in African Americans. Alzheimers Res Ther. 2025 Jul 24; 17(1):171. PMID: 40708016.
Published on 7/17/2025Rajabli F, Benchek P, Tosto G, Kushch N, Sha J, Bazemore K, Zhu C, Lee WP, Haut J, Hamilton-Nelson KL, Wheeler NR, Zhao Y, Farrell JJ, Grunin MA, Leung YY, Kuksa PP, Li D, da Fonseca EL, Mez JB, Palmer EL, Pillai J, Sherva RM, Song YE, Zhang X, Ikeuchi T, Iqbal T, Pathak O, Valladares O, Reyes-Dumeyer D, Kuzma AB, Abner E, Adams LD, Adams PM, Aguirre A, Albert MS, Albin RL, Allen M, Alvarez L, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Auerbach S, Ayres G, Baldwin CT, Barber RC, Barnes LL, Barral S, Beach TG, Becker JT, Beecham GW, Beekly D, Benitez BA, Bennett D, Bertelson J, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Brewer J, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Chasse S, Chesselet MF, Chin NA, Chui HC, Chung J, Craft S, Crane PK, Cribbs DH, Crocco EA, Cruchaga C, Cuccaro ML, Cullum M, Darby E, Davis B, De Jager PL, DeCarli C, DeToledo J, Dick M, Dickson DW, Dombroski BA, Doody RS, Duara R, Ertekin-Taner N, Evans DA, Faber KM, Fairchild TJ, Fallon KB, Fardo DW, Farlow MR, Fernandez-Hernandez V, Ferris S, Friedland RP, Foroud TM, Frosch MP, Fulton-Howard B, Galasko DR, Gamboa A, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Go RCP, Goate AM, Grabowski TJ, Graff-Radford NR, Green RC, Growdon JH, Hakonarson H, Hall J, Hamilton RL, Harari O, Hardy J, Harrell LE, Head E, Henderson VW, Hernandez M, Hohman T, Honig LS, Huebinger RM, Huentelman MJ, Hulette CM, Hyman BT, Hynan LS, Ibanez L, Jarvik GP, Jayadev S, Jin LW, Johnson K, Johnson L, Kamboh MI, Karydas AM, Katz MJ, Kauwe JS, Kaye JA, Keene CD, Khaleeq A, Kikuchi M, Kim R, Knebl J, Kowall NW, Kramer JH, Kukull WA, LaFerla FM, Lah JJ, Larson EB, Lerner A, Leverenz JB, Levey AI, Lieberman AP, Lipton RB, Logue M, Lopez OL, Lunetta KL, Lyketsos CG, Mains D, Margaret FE, Marson DC, Martin ER, Martiniuk F, Mash DC, Masliah E, Massman P, Masurkar A, McCormick WC, McCurry SM, McDavid AN, McDonough S, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Montine TJ, Monuki ES, Morris JC, Mukherjee S, Myers AJ, Nguyen T, Obisesan T, O'Bryant S, Olichney JM, Ory M, Palmer R, Parisi JE, Paulson HL, Pavlik V, Paydarfar D, Perez V, Peskind E, Petersen RC, Petrovitch H, Pierce A, Polk M, Poon WW, Potter H, Qu L, Quiceno M, Quinn JF, Raj A, Raskind M, Reiman EM, Reisberg B, Reisch JS, Ringman JM, Roberson ED, Rodriguear M, Rogaeva E, Rosen HJ, Rosenberg RN, Royall DR, Sabbagh M, Sadovnick AD, Sager MA, Sano M, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Slifer SH, Small S, Smith AG, Smith JP, Sonnen JA, Spina S, George-Hyslop PS, Starks TD, Stern RA, Stevens AB, Strittmatter SM, Sultzer D, Swerdlow RH, Tanzi RE, Tilson JL, Trojanowski JQ, Troncoso JC, Tsolaki M, Tsuang DW, Van Deerlin VM, van Eldik LJ, Vance JM, Vardarajan BN, Vassar R, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Whitehead PL, Wijsman EM, Wilhelmsen KC, Williams B, Williamson J, Wilms H, Wingo TS, Wisniewski T, Woltjer RL, Woon M, Wright CB, Wu CK, Younkin SG, Yu CE, Yu L, Zhu X, Kunkle BW, Bush WS, Miyashita A, Byrd GS, Wang LS, Farrer LA, Haines JL, Mayeux R, Pericak-Vance MA, Schellenberg GD, Jun GR, Reitz C, Naj AC. Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease. Genome Biol. 2025 Jul 17; 26(1):210. PMID: 40676597.
Published on 7/16/2025O'Neill N, Kurniansyah N, Zhu C, Olayinka OA, Mayeux R, Haines JL, Pericak-Vance MA, Wang LS, Schellenberg GD, Farrer LA, Zhang X. Multi-omic derived cell-type specific Alzheimer disease polygenic risk scores. Neurobiol Aging. 2025 Nov; 155:44-52. PMID: 40706314.
Published on 7/1/2025Shade LMP, Katsumata Y, Abner EL, Aung KZ, Claas SA, Qiao Q, Heberle BA, Brandon JA, Page ML, Hohman TJ, Mukherjee S, Mayeux RP, Farrer LA, Schellenberg GD, Haines JL, Kukull WA, Nho K, Saykin AJ, Bennett DA, Schneider JA, Ebbert MTW, Nelson PT, Fardo DW. Author Correction: GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia. Nat Genet. 2025 Jul; 57(7):1788. PMID: 40527984.
Published on 7/1/2025Shade LMP, Katsumata Y, Abner EL, Aung KZ, Claas SA, Qiao Q, Heberle BA, Brandon JA, Page ML, Hohman TJ, Mukherjee S, Mayeux RP, Farrer LA, Schellenberg GD, Haines JL, Kukull WA, Nho K, Saykin AJ, Bennett DA, Schneider JA, Ebbert MTW, Nelson PT, Fardo DW. Publisher Correction: GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia. Nat Genet. 2025 Jul; 57(7):1791. PMID: 40527985.
Published on 6/18/2025Nicolas A, Sherva R, Grenier-Boley B, Kim Y, Kikuchi M, Timsina J, de Rojas I, Dalmasso MC, Zhou X, Le Guen Y, Arboleda-Bustos CE, Camargos Bicalho MA, Guerchet M, van der Lee S, Goss M, Castillo A, Bellenguez C, Küçükali F, Satizabal CL, Fongang B, Yang Q, 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, Cao H, Ip NY, Fu AKY, Ip FCF, Olivar N, Muchnik C, Cuesta C, Campanelli L, Solis P, Politis DG, Kochen S, Brusco LI, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, Heikkinen S, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Rasmussen KL, Thomassen JQ, Pijnenburg YAL, Holstege H, van Swieten JC, Seelaar H, Claassen JAHR, Jansen WJ, Ramakers I, Verhey F, van der Lugt A, Scheltens P, Ortega-Rojas J, Concha Mera AG, Mahecha MF, Pardo R, Arboleda G, Bahrami S, Fominykh V, Selbæk G, Graff C, Papenberg G, Giedraitis V, Boland A, Deleuze JF, de Marco LA, de Moraes EN, de Mattos Viana B, Túlio Gualberto Cintra M, Juarez-Cedillo T, Griswold AJ, Forund T, Haines J, Farrer L, DeStefano A, Wijsman E, Mayeux R, Pericak-Vance M, Kunkle B, Goate A, Schellenberg GD, Vardarajan B, Wang LS, Leung YY, Dalgard CL, Nicolas G, Wallon D, Dufouil C, Pasquier F, Hanon O, Debette S, Grünblatt E, Popp J, Angel B, Gloger S, Chacon MV, Aranguiz R, Orellana P, Slachevsky A, Gonzalez-Billault C, Albala C, Fuentes P, Sachdev P, Mather KA, Hauger RL, Merritt V, Panizzon M, Zhang R, Gaziano JM, Ghidoni R, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Nacmias B, Caffarra P, Seripa D, Rainero I, Daniele A, Piras F, Leonard HL, Yokoyama JS, Nalls MA, Miyashita A, Hara N, Ozaki K, Niida S, Williams J, Masullo C, Amouyel P, Preux PM, Mbelesso P, Bandzouzi B, Saykin A, Jessen F, Kehoe PG, Van Duijn C, Ben Salem N, Frikke-Schmidt R, Cherni L, Greicius MD, Tsolaki M, Sánchez-Juan P, Romano Silva MA, Porter T, Laws SM, Sleegers K, Ingelsson M, Dartigues JF, Seshadri S, Rossi G, Morelli L, Hiltunen M, Sims R, van der Flier W, Andreassen OA, Arboleda H, Cruchaga C, Escott-Price V, Ruiz A, Lee KH, Ikeuchi T, Ramirez A, Gim J, Logue M, Lambert JC. Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations. Nat Genet. 2025 Jul; 57(7):1598-1610. PMID: 40533518.
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