Lindsay Farrer, PhD
Professor
Boston University School of Medicine
Dept of Medicine
Biomedical Genetics

PhD, Indiana University School of Medicine




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.

Section Chief
Boston University School of Medicine
Medicine
Biomedical Genetics

Boston University Distinguished Professor of Genetics
Boston University School of Medicine
Medicine
Biomedical Genetics

Professor
Boston University School of Medicine
Ophthalmology


Professor
Boston University School of Medicine
Neurology


Professor
Boston University School of Public Health
Biostatistics


Professor
Boston University School of Public Health
Epidemiology


Graduate Faculty (Primary Mentor of Grad Students)
Boston University School of Medicine, Graduate Medical Sciences


Member
Boston University
Bioinformatics Graduate Program



2015 Jack Spivack Excellence in Neuroscience Research Award
2015 Boston University: Distinguished Professor of Genetics Award
2011 Boston University School of Medicine: Distinguished Scientist Award
2002 Indiana University School of Medicine: Distinguished Alumnus Award
2000 Case Western University: Joseph M. Foley Lecturer
1999 Who is Who in Science and Engineering (1999 edition)
1998 Who’s Who in the World (1999 edition)
1997 Who’s Who in America (1998 edition)
1997 Who’s Who in Medicine and Health Care (1999-2000 edition)
1991-1993 Alfred P. Sloan Research Fellow
1985-1987 NIH: ostdoctoral Training Fellowship
1984 John H. Edwards Fellowship


Genomic and Biological Studies of APOE e2 in Alzheimer's Disease
09/15/2017 - 06/30/2022 (PI)
NIH/National Institute on Aging
1RF1AG057519-01

Alzheimer's Disease Genetics Consortium
06/15/2015 - 03/31/2020 (PI)
Trustees of the University of Pennsylvania NIH NIA
5U01AG032984-09

Coordinating Center for Genetics and Genomics of Alzheimer's Disease
04/15/2016 - 02/28/2020 (PI)
Trustees of the University of Pennsylvania NIH NIA
5U54AG052427-03

Alzheimer Disease Genetic Architecture in African Americans
02/15/2015 - 01/31/2020 (PI)
NIH/National Institute on Aging
3R01AG048927-04S1

Genetics of Opioid Dependence
09/01/2016 - 08/31/2019 (PI)
Yale University NIH NIDA
5R01DA012690-15

Consortium for Alzheimer Sequencing and Analysis (CASA)
06/15/2014 - 05/31/2019 (PI)
Trustees of the University of Pennsylvania NIH NIA
1UF1AG047133-01

Identifying Methamphetamine Risk Variants by Extreme Phenotype Exome Sequencing
05/01/2017 - 03/31/2019 (PI)
Yale University NIH NIDA
5R01DA037974-03

Coordinating Center for Genetics and Genomics of Alzheimer's Disease
04/15/2016 - 02/28/2019 (PI)
Trustees of the University of Pennsylvania NIH NIA
5U54AG052427-03

Institutional Program Unifying Population and Laboratory Based Sciences Award
02/01/2013 - 01/31/2019 (PI)
Burroughs Wellcome Fund


Analysis of Genetic Data for refractive error and Myopia
05/01/2014 - 04/30/2017 (PI)
Trustees of the University of Pennsylvania NIH NEI
5R01EY024233-03

Showing 10 of 30 results. Show All Results



Yr Title Project-Sub Proj Pubs
2019 Alzheimer Disease Genetic Architecture in African Americans 5R01AG048927-05 12
2018 The Alzheimer Disease Sequence Analysis Collaborative 1U01AG058654-01A1 1
2018 Alzheimer Disease Genetic Architecture in African Americans 5R01AG048927-04 12
2018 Alzheimer Disease Genetic Architecture in African Americans 3R01AG048927-04S1 12
2017 Genomic and Biological Studies of APOE ?2 in Alzheimer Disease 1RF1AG057519-01 3
2017 Alzheimer Disease Genetic Architecture in African Americans 5R01AG048927-03 12
2016 Alzheimer Disease Genetic Architecture in African Americans 5R01AG048927-02 12
2016 Alzheimer Disease Genetic Architecture in African Americans 3R01AG048927-02S1 12
2015 Alzheimer Disease Genetic Architecture in African Americans 1R01AG048927-01 12
2014 Consortium for Alzheimers Sequence Analysis (CASA) 1UF1AG047133-01 17
Showing 10 of 49 results. Show All Results
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.

  1. Ma Y, Jun GR, Zhang X, Chung J, Naj AC, Chen Y, Bellenguez C, Hamilton-Nelson K, Martin ER, Kunkle BW, Bis JC, Debette S, DeStefano AL, Fornage M, Nicolas G, van Duijn C, Bennett DA, De Jager PL, Mayeux R, Haines JL, Pericak-Vance MA, Seshadri S, Lambert JC, Schellenberg GD, Lunetta KL, Farrer LA. Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype. JAMA Neurol. 2019 Jun 10.View Related Profiles. PMID: 31180460.
     
  2. 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.View Related Profiles. PMID: 31140863.
     
  3. 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.View Related Profiles. PMID: 31144443.
     
  4. 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.
     
  5. 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.View Related Profiles. PMID: 30924900.
     
  6. 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. GenetView Related Profiles. PMID: 30820047; DOI: 10.1038/s41588-019-0358-2;.
     
  7. Wachman EM, Farrer LA. The genetics and epigenetics of Neonatal Abstinence Syndrome. Semin Fetal Neonatal Med. 2019 Apr; 24(2):105-110.View Related Profiles. PMID: 30709700.
     
  8. 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.View Related Profiles. PMID: 30683923.
     
  9. 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.View Related Profiles. PMID: 30503768.
     
  10. 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.
     
Showing 10 of 552 results. Show More

This graph shows the total number of publications by year, by first, middle/unknown, or last author.

Bar chart showing 551 publications over 36 distinct years, with a maximum of 40 publications in 2013

YearPublications
19841
19857
19865
198711
19886
198910
19906
19919
199214
199310
199411
199511
199611
19979
199812
19999
200013
20019
20027
200311
20048
200523
200618
200713
200813
200919
201020
201134
201231
201340
201427
201532
201625
201734
201824
20198
In addition to these self-described keywords below, a list of MeSH based concepts is available here.

age-related macular degeneration
Alzheimer disease
gene mapping
genetic epidemiology
illicit drug dependence

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