Lindsay A. Farrer PhD

Section Chief, Biomedical Genetics

Boston University Distinguished Professor of Genetics, Biomedical Genetics

72 E. Concord Street | (617) 638-5393
farrer@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

Websites

BU Profile

Biomedical Genetics Faculty

Ophthalmology Faculty

ResearchGate

Loop Frontiers

Whitaker Cardiovascular Institute's Training Program

Alzheimer's Disease Research Center

School of Public Health faculty

Education

Genetics & Genomics, PhD, Indiana University School of Medicine

Genetics & Genomics, BA, University of North Carolina at Chapel Hill

Publications

Published on 4/9/2025

Han X, Zhang Y, Petrosky JN, Bald S, Sherva RM, Labadorf A, Cherry JD, Chung J, Farrell K, Abdolmohammadi B, Durape S, Martin BM, Palmisano JN, Farrell JJ, Alvarez VE, Huber BR, Dwyer B, Daneshvar DH, Dams-O'Connor K, Jun GR, Lunetta KL, Goldstein LE, Katz DI, Cantu RC, Shenton ME, Cummings JL, Reiman EM, Stern RA, Alosco ML, Tripodis Y, Farrer LA, Stein TD, Crary JF, McKee AC, Mez J. A structural haplotype in the 17q21.31 MAPT region is associated with increased risk for chronic traumatic encephalopathy endophenotypes. Cell Rep Med. 2025 Apr 09; 102084. PMID: 40239644.

PubMed

Published on 3/28/2025

Labonte J, Sugarman MA, Pettway E, Zetterberg H, Blennow K, Ashton NJ, Karikari TK, Aparicio HJ, Frank B, Tripodis Y, Martin B, Palmisano JN, Steinberg EG, Simkin I, Farrer LA, Jun GR, Turk KW, Budson AE, O'Connor MK, Au R, Goldstein LE, Stern RA, Stein TD, McKee AC, Qiu WQ, Mez J, Banks SJ, Alosco ML. Sex differences on tau, astrocytic, and neurodegenerative plasma biomarkers. J Alzheimers Dis. 2025 Mar 28; 13872877251329468. PMID: 40151917.

PubMed

Published on 3/20/2025

Phillips 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 Mar 20. PMID: 40111762.

PubMed

Published on 3/1/2025

Rehman H, Ang TFA, Tao Q, Au R, Farrer LA, Qiu WQ, Zhang X. Plasma protein risk scores for mild cognitive impairment and Alzheimer's disease in the Framingham heart study. Alzheimers Dement. 2025 Mar; 21(3):e70066. PMID: 40156298.

PubMed

Published on 2/13/2025

Kang M, Ang TFA, Devine SA, Sherva R, Mukherjee S, Trittschuh EH, Gibbons LE, 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. medRxiv. 2025 Feb 13. PMID: 39990565.

PubMed

Published on 1/7/2025

Durant A, Mukherjee S, Lee ML, Choi SE, Scollard P, Klinedinst BS, Trittschuh EH, Mez J, Farrer LA, Gifford KA, Cruchaga C, Hassenstab J, Naj AC, Wang LS, Johnson SC, Engelman CD, Kukull WA, Keene CD, Saykin AJ, Cuccaro ML, Kunkle BW, Pericak-Vance MA, Martin ER, Bennett DA, Barnes LL, Schneider JA, Bush WS, Haines JL, Mayeux R, Vardarajan BN, Albert MS, Thompson PM, Jefferson AL, Crane PK, Dumitrescu L, Archer DB, Hohman TJ, Gaynor LS. Evaluating the association of APOE genotype and cognitive resilience in SuperAgers. medRxiv. 2025 Jan 07. PMID: 39830268.

PubMed

Published on 12/6/2024

Leung YY, Lee WP, Kuzma AB, Nicaretta H, Valladares O, Gangadharan P, Qu L, Zhao Y, Ren Y, Cheng PL, Kuksa PP, Wang H, White H, Katanic Z, Bass L, Saravanan N, Greenfest-Allen E, Kirsch M, Cantwell L, Iqbal T, Wheeler NR, Farrell JJ, Zhu C, Turner SL, Gunasekaran TI, Mena PR, Jin J, Carter L, Zhang X, Vardarajan BN, Toga A, Cuccaro M, Hohman TJ, Bush WS, Naj AC, Martin E, Dalgard C, Kunkle BW, Farrer LA, Mayeux RP, Haines JL, Pericak-Vance MA, Schellenberg GD, Wang LS. Alzheimer's Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset. medRxiv. 2024 Dec 06. PMID: 39677464.

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.

PubMed

Published on 11/13/2024

Li D, Han X, Farrer LA, Stein TD, Jun GR. Transcriptome Signatures for Cognitive Resilience Among Individuals with Pathologically Confirmed Alzheimer Disease. medRxiv. 2024 Nov 13. PMID: 39606402.

PubMed

Published on 10/23/2024

Tong T, Zhu C, Farrell JJ, Khurshid Z, Martin ER, Pericak-Vance MA, Wang LS, Bush WS, Schellenberg GD, Haines JL, Qiu WQ, Lunetta KL, Farrer LA, Zhang X. Blood-derived mitochondrial DNA copy number is associated with Alzheimer disease, Alzheimer-related biomarkers and serum metabolites. Alzheimers Res Ther. 2024 Oct 23; 16(1):234. PMID: 39444005.

PubMed

View full list of 666 publications.