Lindsay A. Farrer, PhD
Boston University Distinguished Professor of Genetics, Medicine
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
- Section Chief, Biomedical Genetics, Medicine, Boston University Chobanian & Avedisian School of Medicine
- Professor, Biomedical Genetics, Medicine, Boston University Chobanian & Avedisian School of Medicine
- Professor, Ophthalmology, Boston University Chobanian & Avedisian School of Medicine
- Professor, Neurology, Boston University Chobanian & Avedisian School of Medicine
- Professor, Biostatistics, Boston University School of Public Health
- Professor, Epidemiology, Boston University School of Public Health
- Investigator, Framingham Heart Study
- Member, Evans Center for Interdisciplinary Biomedical Research, Boston University
- Member, Genome Science Institute, Boston University
- Member, Bioinformatics Graduate Program, Boston University
- Graduate Faculty (Primary Mentor of Grad Students), Boston University Chobanian & Avedisian School of Medicine, Graduate Medical Sciences
Education
- Indiana University School of Medicine, PhD
- University of North Carolina at Chapel Hill, BA
Publications
- 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.
Read at: 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.
Read at: 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.
Read at: 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.
Read at: 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.
Read at: 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.
Read at: PubMed - Published on 10/20/2024
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, Kunkle BW, 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 more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project. Alzheimers Dement. 2024 Dec; 20(12):8470-8483. PMID: 39428839.
Read at: PubMed - Published on 10/20/2024
Kang M, Farrell JJ, Zhu C, Park H, Kang S, Seo EH, Choi KY, Jun GR, Won S, Gim J, Lee KH, Farrer LA. Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer's disease. Alzheimers Dement. 2024 Dec; 20(12):8246-8262. PMID: 39428694.
Read at: PubMed - Published on 10/15/2024
Yuan J, Tao Q, Ang TFA, Liu C, Devine S, Auerbach SH, Mez J, Farrer LA, Qiu WQ, Au R. The Relationship between Framingham Stroke Risk Profile on Incident Dementia and Alzheimer's Disease: A 40-Year Follow-Up Study Highlighting Female Vulnerability. Ann Neurol. 2024 Dec; 96(6):1124-1134. PMID: 39404028.
Read at: PubMed - Published on 10/8/2024
Shade 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. GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia. Nat Genet. 2024 Nov; 56(11):2407-2421. PMID: 39379761.
Read at: PubMed
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