Lindsay Farrer, PhD

FarrerProfessor of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, & Biostatistics
Chief, Genetics Program

Phone: 617.638.5393
Fax: 617.638.4275
Location: BUMC, L320


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.

Research Interests

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 ε4 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.

ADC Role

Lindsay Farrer, PhD is a senior investigator with the ADC. He is Project Director for the Multi-Institutional Research in Alzheimer’s Genetic Epidemiology (MIRAGE) study.


Dr. Farrer was named an Alfred P. Sloan Research Fellow, recognized by “Who’s Who in the World”, and received several awards including the Distinguished Alumnus Award from the Department of Medical and Molecular Genetics at Indiana University School of Medicine and an award for Outstanding Scientific Achievement from the Department of Medicine at Boston University. He is a member of several scientific and medical organizations including the American Society of Human Genetics. He is a founding member of International Genetic Epidemiology Society and was elected to the World Federation of Neurology and Human Genome Organization.

Recent Publications

Erlich PM, Lunetta KL, Cupples, LA, Abraham CR, Green RC, Baldwin CT, Farrer LA.  Serum paraoxonase activity is associated with variants in the PON gene cluster and risk of Alzheimer disease.  Neurobiol Aging. 2012 May; 33(5): 1015.e7-23. [PDF]

Logue MW, Schu M, Vardarajan BN, Buros J, Green RC, Go R, Griffith P, Akomolafe A, Obisesan TO, Shatz R, Borenstein A, Cupples LA, Lunetta KL, Fallin MD, Baldwin CT, Farrer LA. A comprehensive genetic association study of Alzheimer disease in African Americans. Arch Neurol. 2011 Dec; 68(12): 1569-79. [PDF]

Naj AC, Jun G, Beecham GW,…[148 co-authors]…Pericak-Vance MA, Farrer LA, Schellenberg GD. Genome-wide association study of late-onset Alzheimer disease identifies disease associated variants in MS4A4/MS4A6E, CD2AP, CD33, and EPHA1. Nat Genet. 2011 May; 43(5): 436-41. [PDF]

Farrell JJ, Sherva RM, Luo H-Y, Chen Z-Y, Ha SY, Li CK, Lee ACW, Li CK, Yuen HL, So JCC, Ma ESK, Chan LC, Chan V, Sebastiani P, Farrer LA, Baldwin CT, Steinberg MH, Chui DHK.  A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with Hb F expression. Blood. 2011 May 5; 117(18): 4935-45. [Full text]

Reitz C, Tokuhiro S, Clark LN, Conrad C, Vonsattel J-P, Palotas A, Lantigua R, Medrano M, Jiménez-Velázquez IZ, Haines JL,Pericak-Vance MA, Farrer LA, Lee JH, Rogaeva E, St. George-Hyslop P, Mayeux R. SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer’s disease risk. Ann Neurol. 2011 Jan; 69(1): 47-64. [PDF]

Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings E, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DHK, Baldwin CT, Steinberg MH.  Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5′ olfactory receptor gene cluster. Blood 2010 Mar 4; 115(9): 1815-22. [Full text]

Green RC, Roberts JS, Cupples LA, Relkin NR, Whitehouse PJ, Brown T, LaRusse Eckert S, Butson M, Sadovnick AD, Quaid KA, Chen C, Cook-Deegan R, Farrer LA for the REVEAL Study Group.  A randomized trial of APOE disclosure for risk of Alzheimer’s disease: The REVEAL Study. New Engl J Med. 2009 Jul 16; 361(3): 245-54. [PDF]

Farrer LA, Kranzler HR, Yu Y, Weiss RD, Brady, KT, Cubells JF, Gelernter J.  Association of Variants in the α-endomannosidase (MANEA) gene with cocaine-related behaviors. Arch Gen Psychiatry 2009 Mar; 66(3): 267-74. [PDF]

Rogaeva E, Meng Y, Lee JH, Gu Y-J, Zou F, Kawarai T, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C, Wakutani Y, Cupples LA, T.Cuenco K, Green RC, Pinessi L, Rainero I, Sorbi S, Bruni A, Duara R, Friedland R, Inzelberg R, Hampe W, Bujo H, Song Y, Andersen O, Graff-Radford N, Petersen R, Dickson D, Der SD, Fraser PE, Schmitt-Ulms G, Younkin S, Mayeux R, Farrer LA, St George-Hyslop P.  The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet. 2007 Feb; 39(2): 168-77.

Edwards AO, Ritter R, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science 2005 Apr 15; 308(5720): 421-4. [PDF]

Saleh M, Vaillancourt JP, Graham RK, Huyck M, Srinivasula SM, Alnemri ES, Steinberg MH, Nolan V, Baldwin, CT, Hotchkiss RS, Buchman TG, Zehnbauer BA, Hayden MR, Farrer LA, Roy S, Nicholson DW. Differential modulation of endotoxin responsiveness by human caspase-12 polymorphs. Nature 2004 May 6;429(6987): 75-9. [PDF]

Kennedy JL, Farrer LA, Andreasen NC, Mayeux R, St. George-Hyslop P. The genetics of adult-onset neuropsychiatric disease: complexities and conundra? Science 2003 Oct 31; 302(5646): 822-6. [PDF]

Farrer LA, Bowirrat A, Friedland RP, Waraska K, Korczyn AD, Baldwin CT. Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab Community. Hum Mol Genet 2003 Feb 15; 12(4): 415-22. [PDF]

Riazanskaya N, Lukiw WJ, Grigorenko A, Korovaitseva G, , Molyaka Y, Nicolaou M, Farrer LA, Bazan NG, Rogaev EI. Regulatory region variability in the human presenilin-2 (PSEN2) gene: modulation of gene activity and potential contribution to the risk for AD. Mol Psychiatry 2002; 7(8): 891-8. [PDF]

Graff-Radford N, Green RC, Go RC, Hutton ML, Edeki T, Bachman D, Adamson JL, Griffith P, Willis FB, Williams M, Hipps Y, Haines JL, Cupples LA, Farrer LA. Association between apolipoprotein E genotype and Alzheimer disease in African American subjects. Arch Neurol 2002 Apr; 59(4): 594-600. [PDF]

Green RC, Cupples LA, Go R, Benke KS, Edeki T, Griffith PA, Williams M, Hipps Y, Graff-Radford N, Bachman D, Farrer LA. Risk of dementia among White and African American relatives of patients with Alzheimer disease. JAMA 2002 Jan 16; 287(3): 329-36. [PDF]