Lindsay A. Farrer, Ph.D.

Lindsay A. Farrer, Ph.D.
Chief, Biomedical Genetics
BUSM Distinguished Professor of Genetics
Professor of Medicine, Neurology, Ophthalmology, Epidemiology, and Biostatistics
Director, Boston University Molecular Genetics Core Facility
Director, Boston University Transformative Training Program in Addiction Science
Phone: (617) 358-3550
Fax: (617) 358-3551
Location: BU Medical School, E200


Dr. Lindsay Farrer is a medical geneticist at Boston University Schools of Medicine and Public Health where he is the Boston University 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.

Selected Recent Publications

  1. Lim Y, Beane-Ebel JE, Tanaka Y, Ning B, Husted CR, Henderson DC, Xiang Y, Park IH, Farrer LA, Zhang H. Exploration of alcohol use disorder-associated brain miRNA-mRNA regulatory networks. Transl Psychiatry. 2021; 11(1):504. PMID: 34601489.
  2. Moazzam M, Yim T, Kumaresan V, Henderson DC, Farrer LA, Zhang H. Analysis of telomere length variation and Shelterin complex subunit gene expression changes in ethanol-exposed human embryonic stem cells. J Psychiatr Res. 2021; 143:543-549. PMID: 33243459
  3. Patel D, Zhang X, Farrell JJ, Chung J, Stein T, Lunetta KL, Farrer LA. Cell-type specific expression quantitative trait loci associated with Alzheimer disease in blood and brain tissue. Transl Psychiatry. 2021; 11:250. PMID: 33907181
  4. Zhang X, Farrell JJ, Tong T, Hu J, Zhu C, Alzheimer’s Disease Sequencing Project, Wang L-S, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GD, Lunetta KL, Farrer LA. Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer disease. Alzheimer Dement 2021. In press. PMID: 34152079
  5. 3. Cox J, Sherva R, Wetherill L, Foroud T, Edenberg H, Kranzler HR, Gelernter J, Farrer LA. Genome-wide association study of stimulant dependence. Transl Psychiatry 2021; 11(1):363. PMID: 34226506
  6. Johnson EC, Demontis D, Thorgeirsson TE, Walters RK, Polimanti R, Hatoum AS, Sanchez-Roige S, Paul SE, Clarke T-K, Lai D, Reginsson GW, Zhou H, He J, Baranger DAA, Gudbjartsson DF, Wedow R, Adkins DE, Adkins AE, Alexander J, Bacanu S-A, Bigdeli TB, Boden J, Brown SA, Bucholz KK, Bybjerg-Grauholm J, Corley R, Costello EJ, Degenhardt L, Dick DM, Domingue BW, Fox L, Goate AM, Gordon SD, Hack LM, Hancock DB, Hartz SM, Hickie IB, Hougaard DM, Krauter K, Lind PA, McClintick JN, McQueen MB, Meyers JL, Montgomery GW, Mors O, Mortensen PB, Nordentoft M, Pearson JF, Peterson RE, Reynolds MD, Rice JP, Runarsdottir V, Saccone NL, Sherva R, Silberg JL, Tarter RE, Tyrfingsson T, Wall TL, Webb BT, Werge T, Wetherill L, Wright MJ, Zellers S, Adams MJ, Bierut LJ, Boardman JD, Copeland WE, Farrer LA, Foroud TM, Gillespie NA, Grucza RA, Harris KM, Heath AC, Hesselbrock V, Hewitt JK, Hopfer CJ, Horwood J, Iacono WG, Johnson EO, Kendler KS, Kennedy MA, Kranzler HR, Madden PAF, Maes HH, Maher BS, Martin NG, McGue M, McIntosh AM, Medland SE, Nelson EC, Porjesz B, Riley BP, Stallings MC, Vanyukov MW, Vrieze S, the Psychiatric Genomics Consortium Substance Use Disorders Workgroup, Davis LK, Bogdan R, Gelernter J, Edenberg HJ, Stefansson K, Børglum AD, Agrawal A. Genome-wide association study meta-analysis of cannabis use disorder in over 380,000 individuals reveals distinct genetic architectures of cannabis use and use disorder. Lancet Psychiatry  2020; 7:1032-1045. PMID: 33096046. In press.
  7. Kunkle BW, Schmidt M, Klein HU, Naj AC, Hamilton-Nelson KL, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Martinez I, Ayodele T, Crane PK, Buxbaum JD, Ertekin-Taner N, Logue M, Barnes LL, Cantwell LB, Jean-Francois, Kuzma AB, Adams LD, Fallin MD, Vance JM, Cuccaro ML, Manly JJ, Jun G, Chung J, Mez J, Go RC, Griffith P, Obisesan TO, Lunetta KL, Kamboh MI, Lopez OL, Alzheimer’s Disease Genetics Consortium (ADGC), Bennett DA, Hall KS, Hendrie H, Reiman E, Kowall N, Leverenz J, Small S, Levey A, Golde T, Saykin A, Albert M, Hyman B, Peterson R, Sano M, Wisniewski T, Vassar R, Kaye J, Henderson V, DeCarli C, LeFerla F, Brewer J, Miller B, Swerdlow R, Van Eldik L, Paulson H, Trojanowski JQ, Chui H, Rosenberg R, Craft S, Grabowski T, Asthan S, Morris J, StrittmatterS, Goate AM, Kukull WA, Foroud TM, Martin ER, Wang L-S, Byrd GS, Farrer LA, Haines JL, Schellenberg GD, Mayeux R, Pericak-Vance MA, Reitz C. Novel Alzheimer disease risk loci and pathways in African American individuals using the African Genome Resources panel: A meta-analysis. JAMA Neurol 2021; 78:102-113. PMID: 33074286. In press.
  8. Lancour D, Dupuis J, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GC, Crovella M, Farrer LA, Kasif S. Analysis of brain region-specific co-expression networks reveals clustering of previously established and novel genes associated with Alzheimer disease. Alzheimer Res Ther 2020; 12(1):103. PMID: 32878640
  9. Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton KL, Bush WS, Salerno W, Lancour D, Ma Y, Renton AE, Marcora EM, Farrell J, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues J-F, Debette S, Deleuze J-F, 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 M, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes A, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton T, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Vardarajan BN, Wang W, Wijsman E, Wilson RK, Witten D, Worley K, Zhang X, Alzheimer’s Disease Sequencing Project, Bellenguez C, Lambert J-C, Kurki M, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA. Whole exome sequencing study identifies novel rare and common Alzheimer’s-associated variants involved in immune response and transcriptional regulation. Mol Psychiatry 2020; 25:1859-1875.  PMID: 30108311 
  10. Fan CC. Banks SJ, Thompson WK, Chen C-H. McEvoy LK, Tan CH. Kukull W, Bennett DA, Farrer LA. Mayeux R, Schellenberg GD, Andreassen OA, Desikan R, Dale AM. Sex-dependent polygenic effects on the clinical progression of Alzheimer’s disease. Brain 2020; 143:2272-2280. PMID: 32591829
  11. Sherva R, Gross A, Mukherjee S, Koesterer R, Amouyel P, Bellenguez C, Bennett D, Chibnik L, Cruchaga C, Farrer LA, Kraft P, Mayeux R, Munsie L, Newhouse S, Saykin A, Schellenberg G, the Alzheimer’s Disease Genetics Consortium, Crane PK, Green RC. Genome-wide association study of rate of cognitive decline in Alzheimer’s disease patients identifies novel genes and pathways. Alzheimer Dement 2020; 16:1134-1145. PMID: 32573913
  12. Cox J, Sherva R, Lunetta KL, Saitz R, Kon M, Kranzler HR, Gelernter J, Farrer LA. Identifying factors associated with opioid cessation in a biracial sample using machine learning. Explor Med 2020; 1:27-41.
  13. Reiman EM, Arboleda-Velasquez JF, Quiroz YT, Huentelman MJ, Beach TG, Caselli RJ, Myers AJ, Hardy J, Vonsattel JP, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Keene C, Kamboh MI, Kofler JK, Mash DC, Duque L, Gilbert JR, Gwirtsman HE, Buxbaum JD, Kramer P, Dickson DW, Frosch MP, Ghetti B, Wang L-S, Hyman BT, Kukull WA, Foroud T, Haines JL, Mayeux RP, Pericak-Vance MA,  Schneider JA, Trojanowski JQ, Farrer LA, Schellenberg G, Beecham GW, Montine TJ, Jun GR for the Alzheimer’s Disease Genetics Consortium. Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study. Nat Commun 2020; 11:667. PMID: 32015339
  14. Cox JW, Sherva RM, Lunetta KL, Johnson EC, Martin NG, Degenhardt L, Agrawal A, Nelson EC, Kranzler H, Gelernter J, Farrer LA. Genome-wide association study of opioid cessation. J Clin Med 2020; 9:180. PMID: 31936517
  15. Choi KY, Lee JJ, Gunasekaran TI, Kang S, Lee W, Jeong J, Zhang X, Zhu C; Choi YY, Lim HJ, Park JE, Seo EH, Lee SC, Gim J, Chung JY, Chong A, Byun MS, Seo S, Ko P-W, Han J-W, Farrell J, Alzheimer’s Disease Neuroimaging Initative, Lunetta KL, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GD, An SSA, Won S, Choi S-M, Ha J-M, Lee H-W, Park KW, Lee YM, Choi SH, Rhee S, Kim K-W, Song WK, Lee JS, Song MK, Nho K, Jun GR, Kim SY, Choo IH, Lee DY, Kim BC, Kim H, Ikeuchi T, Farrer LA, Lee KH. APOE promoter polymorphism -219T/G is an effect modifier of the Influence of APOE ε4 on Alzheimer’s disease risk in a multiracial sample. J Clin Med 2019; 8(8). pii: E1236. PMID: 31426376
  16. Handa,JT, Bowes Rickman C, DickAD, Gorin MB, Miller JW, Toth CA, Ueffing M, Zarbin M, Farrer LA. A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration. Nat Commun 2019; 10:3347. PMID: 31350409
  17. 15. Ma Y, Zhang X, Jun G, Chung J, Naj AC, Belinguez C, Hamilton-Nelson K, Martin ER, Kunkle BW, Alzheimer Disease Sequencing Project, ADES-FR, Bis JC, DeStefano AL, Fornage M, van Duijn C, Bennett D, DeJager P, Mayeux R, Haines JL, Pericak-Vance MA, Seshadri S, Lambert J-C, Schellenberg GD, Lunetta KL, Farrer LA. Novel Alzheimer disease loci identified in subsets of whole exome sequencing data stratified by APOE genotype. JAMA Neurol 2019; 76:1099-1108. PMID: 31180460
  18. Ma Y, Jun GR, Chung J, Zhang X, Kunkle BW, Naj AC, White CC, De Jager PL, Bennett DA, Alzheimer’s Disease Genetics Consortium, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GD, Farrer LA, Lunetta KL. CpG-related SNPs in the MS4A Region have a dose-dependent effect on risk of late-onset Alzheimer disease. Aging Cell 2019; 18(4):e12964. PMID: 31144443
  19. Wachman EM, Farrer LA. The genetics and epigenetics of Neonatal Abstinence Syndrome. Semin Fetal Neonatal Med 2019; 4:105-110 PMID: 30709700
  20. Patel D, Mez J, Vardarajan B, Staley L, Chung J, Zhang X, Farrell JJ, Rynkiewicz MJ, Cannon-Albright LA, Teerlink CC, Stevens J, Corcoran C, Gonzalez Murcia JD, Lopez OL, Alzheimer Disease Sequencing Project, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg G, Kauwe JSK, Lunetta KL, Farrer LA. Association of rare coding mutations with Alzheimer disease and other dementias among adults of European ancestry. JAMA Network Open2019; 2(3):e191350. PMID: 30924900
  21. Zhang X, Zhu C, Beecham G, Vardarajan BN, Ma Y, Lancour D, Farrell JJ, Chung J, Alzheimer’s Disease Sequencing Project, Mayeux R, Haines JL, Schellenberg GD, Pericak-Vance MA, Lunetta KL, Farrer LA. A rare missense variant in CASP7 is associated with familial late-onset Alzheimer disease. Alzheimer Dement 2019; 15:441-452. PMID: 30503768
  22. Chung J, Jun GR, Dupuis J, Farrer LA. Comparison of methods for multivariate gene-based association tests using common variants for complex disease. Eur J Hum Genet 2019; 27:811-823. PMID: 30683923
  23. Chung J, Wang X, Maruyama T, Ma Y, Zhang X, Mez J, Sherva R, Takeyama H, The Alzheimer’s Disease Neuroimaging Initiative, Lunetta KL, Farrer LA, Jun GR. Genome-wide association study of Alzheimer disease endophenotypes at prediagnosis stages. Alzheimers Dement 2018; 14:623-633. PMID: 29274321
  24. Lancour D, Naj A, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GC, Crovella M, Farrer LA, Kasif S. One for all and all for one: improving replication of genetic studies through network diffusion. PLoS Genet 2018; 14(4):e1007306. PMID: 29684019
  25. 23. Ikezu T, Chen C, DeLeo AM, Zeldich E, Fallin MD, Kanaan NM, Lunetta KL, Abraham CR, Logue MW, Farrer LA. Tau phosphorylation is impacted by rare AKAP9 mutations associated with Alzheimer disease. J Neuroimmune Pharmol2018; 13:254-264. PMID: 29516269
  26. Chung J, Zhang X, Allen M, Wang X, Ma Y, Beecham G, Montine, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Lunetta KL, Mez J, Alzheimer Disease Genetics Consortium, Mayeux R, Haines J, Pericak-Vance M, Schellenberg G, Jun GR, Farrer LA. Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer disease. Alzheimers Res Ther 2018;10:22. PMID:29458411
  27. Jun G, Chung J, Mez, J, Barber R, Beecham GW, Bennett DA, Buxbaum JD, Byrd GS, Carasquillo M, Crane PK, Cruchaga C, De Jager P, Ertekin-Taner N, Evans D, Fallin MD, Foroud TM, Friedland RP, Goate AM, Graff-Radford NR, Hendrie H, Hall KS, Hamilton-Nelson KL, Inzelberg R, Kamboh MI, Kauwe JSK, Kukull WA, Kunkle BW, Kuwano R, Logue MW, Manly JJ, Larson EB, Martin ER, Montine TJ, Naj A, Reiman EM, Reitz C, Sherva R, St. George-Hyslop PH, Younkin SG, Vardarajan BN, Wang L-S, Wendlund JR, Winslow AR, Alzheimer Disease Genetics Consortium, Haines J, Mayeux R, Pericak-Vance MA, Schellenberg G, Lunetta K, Farrer LA. Transethnic Genome-Wide Scan Identifies Novel Alzheimer Disease Loci. Alzheimers Dement 2017; 13:727-738. PMID: 28183528
  28. Smith AH, Jensen KP, Li J, Nunez Y, Farrer LA, Hakonarson H, Cook-Sather SD, Kranzler HR, Gelernter J. Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1. Mol Psychiatry 2017; 22:346-352. PMID: 28115739
  29. Mez J, Chung J, Jun G, Kriegel J, Bourlas AP, Sherva R, Logue MW, Bennett DA, Buxbaum JD, Byrd GS, Ertekin-Taner N, Evans D, Fallin MD, Foroud T, Goate A, Graff-Radford NR, Kamboh MI, Kukull WA, Manly JJ, Alzheimer Disease Genetics Consortium, Haines JL, Mayeux R, Pericak-Vance MA, Schellenberg GD, Lunetta KL, Farrer LA. Identification of two novel loci, COBL and SLC10A2, for Alzheimer’s disease in African Americans using informed conditioning on clinical covariates. Alzheimers Dement 2017; 13:119-129. PMID: 27770636
  30. Wachman EM, Hayes MJ, Sherva R, Brown MS, Shrestha H, Logan BA, Heller NA, Nielsen DA, Farrer LA. Association of maternal and infant variants in PNOC and COMT genes with neonatal abstinence syndrome severity. Am J Addict 2017; 26:42-49. PMID: 27983768
  31. Jensen KP, Smith AH, Herman AI, Farrer LA, Kranzler HR, Sofuoglu M, Gelernter J. A protocadherin gene cluster regulatory variant is associated with nicotine withdrawal and the urge to smoke. Mol Psychiatry 2017; 22:242-249. PMID:27067016