Lindsay A. Farrer, PhD

Professor, Medicine

Lindsay Farrer
617.638.5393
72 E. Concord St Instructional (L)

Biography

Dr. Lindsay Farrer is a medical geneticist at Boston University Schools of Medicine and Public Health where he is Chief of Biomedical Genetics and a Professor of Medicine, Neurology, Ophthalmology, Genetics & Genomics, 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 genetic epidemiology at Boston University, directs Boston University’s Molecular Genetics Core Facility which offers DNA genotyping and sequencing services to investigators at the Boston Medical Center, and provides genetic counseling and testing to patients with a variety of inherited conditions.

Dr. Farrer’s research has lead to more than 300 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 including Alzheimer disease (AD), 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 age-related macular degeneration (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) for several disorders including AD, substance dependence (cocaine, opiates, nicotine and alcohol), AMD and vasculitis. 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. Thus far, detailed family histories, risk factor data, and DNA specimens from more than 2,500 AD families have been collected as a part of this program. 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. 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 and his colleagues recently discovered four new Alzheimer genes in the largest GWAS of AD to date.

Other Positions

  • Section Chief, Biomedical Genetics, Medicine, Boston University School of Medicine
  • Boston University Distinguished Professor of Genetics, Biomedical Genetics, Medicine, Boston University School of Medicine
  • Professor, Ophthalmology, Boston University School of Medicine
  • Professor, Neurology, Boston University School of Medicine
  • Professor, Biostatistics, Boston University School of Public Health
  • Professor, Epidemiology, Boston University School of Public Health
  • Graduate Faculty (Primary Mentor of Grad Students), Boston University School of Medicine, Graduate Medical Sciences
  • Member, Bioinformatics Graduate Program, Boston University

Education

  • Indiana University School of Medicine, PhD
  • University of North Carolina at Chapel Hill, BA

Publications

  • Published on 5/29/2019

    Rosato AJ, Chen X, Tanaka Y, Farrer LA, Kranzler HR, Nunez YZ, Henderson DC, Gelernter J, Zhang H. Salivary microRNAs identified by small RNA sequencing and machine learning as potential biomarkers of alcohol dependence. Epigenomics. 2019 May 29. PMID: 31140863.

    Read at: PubMed
  • Published on 5/29/2019

    Ma Y, Jun GR, Chung J, Zhang X, Kunkle BW, Naj AC, White CC, Bennett DA, De Jager PL, 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 May 29; e12964. PMID: 31144443.

    Read at: PubMed
  • Published on 3/1/2019

    Owen LA, Shakoor A, Morgan DJ, Hejazi AA, McEntire MW, Brown JJ, Farrer LA, Kim I, Vitale A, DeAngelis MM. The Utah Protocol for Postmortem Eye Phenotyping and Molecular Biochemical Analysis. Invest Ophthalmol Vis Sci. 2019 Mar 01; 60(4):1204-1212. PMID: 30924847.

    Read at: PubMed
  • Published on 3/1/2019

    Patel D, Mez J, Vardarajan BN, Staley L, Chung J, Zhang X, Farrell JJ, Rynkiewicz MJ, Cannon-Albright LA, Teerlink CC, Stevens J, Corcoran C, Gonzalez Murcia JD, Lopez OL, 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 Netw Open. 2019 Mar 01; 2(3):e191350. PMID: 30924900.

    Read at: PubMed
  • Published on 2/28/2019

    Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roschupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing. Nat Genet. 2019 03; 51(3):414-430. PMID: 30820047.

    Read at: PubMed
  • Published on 1/25/2019

    Wachman EM, Farrer LA. The genetics and epigenetics of Neonatal Abstinence Syndrome. Semin Fetal Neonatal Med. 2019 Apr; 24(2):105-110. PMID: 30709700.

    Read at: PubMed
  • Published on 1/25/2019

    Chung J, Jun GR, Dupuis J, Farrer LA. Comparison of methods for multivariate gene-based association tests for complex diseases using common variants. Eur J Hum Genet. 2019 May; 27(5):811-823. PMID: 30683923.

    Read at: PubMed
  • Published on 1/3/2019

    Zhang X, Zhu C, Beecham G, Vardarajan BN, Ma Y, Lancour D, Farrell JJ, Chung J, Mayeux R, Haines JL, Schellenberg GD, Pericak-Vance MA, Lunetta KL, Farrer LA. A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease. Alzheimers Dement. 2019 Mar; 15(3):441-452. PMID: 30503768.

    Read at: PubMed
  • Published on 12/5/2018

    Rajabli F, Feliciano BE, Celis K, Hamilton-Nelson KL, Whitehead PL, Adams LD, Bussies PL, Manrique CP, Rodriguez A, Rodriguez V, Starks T, Byfield GE, Sierra Lopez CB, McCauley JL, Acosta H, Chinea A, Kunkle BW, Reitz C, Farrer LA, Schellenberg GD, Vardarajan BN, Vance JM, Cuccaro ML, Martin ER, Haines JL, Byrd GS, Beecham GW, Pericak-Vance MA. Ancestral origin of ApoE e4 Alzheimer disease risk in Puerto Rican and African American populations. PLoS Genet. 2018 12; 14(12):e1007791. PMID: 30517106.

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  • Published on 11/26/2018

    Walters RK, Polimanti R, Johnson EC, McClintick JN, Adams MJ, Adkins AE, Aliev F, Bacanu SA, Batzler A, Bertelsen S, Biernacka JM, Bigdeli TB, Chen LS, Clarke TK, Chou YL, Degenhardt F, Docherty AR, Edwards AC, Fontanillas P, Foo JC, Fox L, Frank J, Giegling I, Gordon S, Hack LM, Hartmann AM, Hartz SM, Heilmann-Heimbach S, Herms S, Hodgkinson C, Hoffmann P, Jan Hottenga J, Kennedy MA, Alanne-Kinnunen M, Konte B, Lahti J, Lahti-Pulkkinen M, Lai D, Ligthart L, Loukola A, Maher BS, Mbarek H, McIntosh AM, McQueen MB, Meyers JL, Milaneschi Y, Palviainen T, Pearson JF, Peterson RE, Ripatti S, Ryu E, Saccone NL, Salvatore JE, Sanchez-Roige S, Schwandt M, Sherva R, Streit F, Strohmaier J, Thomas N, Wang JC, Webb BT, Wedow R, Wetherill L, Wills AG, Boardman JD, Chen D, Choi DS, Copeland WE, Culverhouse RC, Dahmen N, Degenhardt L, Domingue BW, Elson SL, Frye MA, Gäbel W, Hayward C, Ising M, Keyes M, Kiefer F, Kramer J, Kuperman S, Lucae S, Lynskey MT, Maier W, Mann K, Männistö S, Müller-Myhsok B, Murray AD, Nurnberger JI, Palotie A, Preuss U, Räikkönen K, Reynolds MD, Ridinger M, Scherbaum N, Schuckit MA, Soyka M, Treutlein J, Witt S, Wodarz N, Zill P, Adkins DE, Boden JM, Boomsma DI, Bierut LJ, Brown SA, Bucholz KK, Cichon S, Costello EJ, de Wit H, Diazgranados N, Dick DM, Eriksson JG, Farrer LA, Foroud TM, Gillespie NA, Goate AM, Goldman D, Grucza RA, Hancock DB, Harris KM, Heath AC, Hesselbrock V, Hewitt JK, Hopfer CJ, Horwood J, Iacono W, Johnson EO, Kaprio JA, Karpyak VM, Kendler KS, Kranzler HR, Krauter K, Lichtenstein P, Lind PA, McGue M, MacKillop J, Madden PAF, Maes HH, Magnusson P, Martin NG, Medland SE, Montgomery GW, Nelson EC, Nöthen MM, Palmer AA, Pedersen NL, Penninx BWJH, Porjesz B, Rice JP, Rietschel M, Riley BP, Rose R, Rujescu D, Shen PH, Silberg J, Stallings MC, Tarter RE, Vanyukov MM, Vrieze S, Wall TL, Whitfield JB, Zhao H, Neale BM, Gelernter J, Edenberg HJ, Agrawal A. Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders. Nat Neurosci. 2018 12; 21(12):1656-1669. PMID: 30482948.

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