Lindsay A Farrer, Ph.D.

Lindsay Farrer, Genetic Program Chief
Lindsay A. Farrer, Ph.D.
Chief, Biomedical Genetics
Professor, Depts. of Medicine, Neurology, Ophthalmology, and Genetics and Genomics, Boston University School of Medicine and Depts. of Epidemiology and Biostatistics, Boston University School of Public Health
1985-87 NIH Postdoctoral Fellow, Dept of Human Genetics, Yale University School of Medicine
1985 Ph.D., Indiana University School of Medicine (Medical Genetics)
1981 B.A., University of North Carolina (Population Genetics)
Other Appointments
Director, Genetic Epidemiology Center, Boston University School of Medicine
Genetic Epidemiologist, ENRVA Hospital, Bedford, Massachusetts

Research Interests

In collaboration with other laboratories worldwide, Dr. Farrer 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. Working together with other BU researchers, Dr. Farrer’s lab is leading efforts to identify genes influencing severity and expression of sickle cell anemia and β-thalassemia.  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.  Dr. Farrer’s major research focus is Alzheimer disease (AD).  Under Dr. Farrer’s leadership, the MIRAGE Study, 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 and was the first to demonstrate that genetic factors have a major role in the development of AD.  His team has also shown that the ε4 variant of apolipoprotein E (APOE), the strongest AD risk factor identified thus far, is more weakly associated with disease in men and persons older than 75 years.  Dr. Farrer co-directed the effort which demonstrated that neuronal sortilin-related receptor SORL1 is genetically and functionally associated with AD, thus establishing intracellular trafficking as an important pathway in AD pathogenesis.  He serves on the Executive Committee of the national AD Genetics Consortium and co-directs the data analysis effort for this large NIH-funded project.  These efforts lead to the recent identification of four novel AD susceptibility genes. Currently, his lab is conducting genome wide association studies for AD, AMD and substance dependence. 

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.

Selected Publications

Erlich PM, Lunetta KL, Cupples, LA, Abraham CR, Green RC, Baldwin CT, Farrer LA. Measures of serum paraoxonase activity are associated with multiple distinct variants in the PON gene cluster and risk of Alzheimer disease. Neurobiol Aging 2012; 33:1015. PMID: 20980077. [pubmed]

Melville S, Buros J, Parrado A, Vardarajan B, Shen L, Risacher SL, Alzheimer Disease Neuroimaging Initiative, Kim S, Jun G, DeCarli C, Lunetta KL, Baldwin CT, Saykin AJ, Farrer LA. Genome-wide association study of Alzheimer-related brain MRI traits. Ann Neurol 2012; 72:65-75. PMID: 22745009. [pubmed]

Jun G, Moncaster JA, Koutras C, Buros J, Levesque G, Seshadri S, Wolf PA, St George-Hyslop P, Goldstein LE, Farrer LA. Delta-catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related brain changes in the Framingham Study. PLoS One 2012; 7:e43728. [pubmed]

Li D, Zhao H, Kranzler HR, Oslin D, Anton RF, Farrer LA, Gelernter J. Association of COL25A1 with co-morbid antisocial personality disorder (ASPD) and substance dependence. Biol Psych 2012; 71:733-740. PMID: 22297151. [pubmed]

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, for the MIRAGE Study Group. Genetic variants at multiple loci influence Alzheimer disease risk in African Americans. Arch Neurol 2011; 68:1569-1579. PMID: 22159054. [pubmed]

Naj AC, Jun G, Beecham GW,…….134 authors….. Pericak-Vance MA, s24 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; 43:436-441. PMID: 21460841. [pubmed]

Sherva R, Baldwin CT, Inzelberg R, Vardarajan B, Cupples LA, Lunetta K, Bowirrat A, Naj A, Pericak-Vance MA, Friedland RP, Farrer LA. Identification of novel candidate genes for Alzheimer disease by autozygosity mapping using genome wide SNP data from an Israeli-Arab community. J Alz Dis. 2011; 23:349-359. PMID: 21098978. [pubmed]

Perneczky R,Wagenpfeil S, Lunetta KL, Cupples A, Green RC, DeCarli C, Farrer LA, Kurz A for the MIRAGE Study Group. Head circumference, atrophy and cognition: implications for brain reserve in Alzheimer’s disease. Neurology 2010; 75:137-142. PMID: 20625166. [pubmed]

Sherva R, Ma Q, Abel K, Sripichai O, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Fucharoen S, Braun A, Farrer LA. Genetic modifiers of Hb E / β0 thalassemia identified by a two-stage genome-wide association study. BMC Med Genet 2010; 11:51. PMID: 20353593. [pubmed]

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; 361:245-254. PMID: 19605829. [pubmed]

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; 66:267-274. PMID: 19255376. [pubmed]

T.Cuenco K, Lunetta K, Baldwin CT, McKee AC, Guo J, Cupples LA, Green RC, St. George-Hyslop P, Chui H, DeCarli C, Farrer LA for the MIRAGE Study Group. Distinct variants in SORL1 are associated with cerebrovascular and neurodegenerative changes related to Alzheimer disease. Arch Neurol 2008; 65:1640-1648. PMID: 19064752. [pubmed]

Yu Y, Kranzler HR, Panhuysen C, Weiss RD, Poling J, Farrer LA, Gelernter J. Substance dependence whole genome association study in two distinct American populations. Hum Genet 2008; 123:495-506. PMID: 18438686. [pubmed]

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 sortilin-related receptor SORL1 is functionally and genetically associated with Alzheimer’s disease. Nat Genet 2007; 39:168-177. PMID: 17220890. [pubmed]

Gelernter J, Yu Y, Weiss R, Brady K, Panhuysen C, Yang B, Kranzler HR, Farrer LA. Haplotype spanning TTC12 and ANKK1, adjacent to the DRD2 locus, is strongly associated to nicotine dependence in two distinct American populations. Hum Mol Genet 2006; 15:3498-3507. PMID: 17085484. [pubmed]

Gelernter J, Panhuysen C, Wilcox M, Hesselbrock V, Rounsaville B, Poling J, Weiss R, Sonne S, Farrer LA, Kranzler HR.  Genomewide linkage scan for opioid dependence and related traits.  Am J Hum Genet  2006;78:759-769. PMID: 16642432. [pubmed]

Yu Y, Panhuysen C, Kranzler HR, Hesselbrock V, Rounsaville B, Poling J, Wilcox M, Weiss R, Brady K, Farrer LA, Gelernter J. Intronic variants in the dopa decarboxylase (DDC) gene are associated with smoking behavior in European-Americans and African-Americans. Hum Molec Genet 2006;15:2192-2199 PMID: 16740595. [pubmed]

Nolan VG, Wyszynski DF, Farrer LA, Steinberg MH. Hemolysis associated priapism in sickle cell disease. Blood 2005; 106:3264-3267. PMID: 15985542. [pubmed]

Yu Y, Wyszynski DF, Waterworth DM, Wilton SD, Barter PJ, Kesäniemi YA,, Mahley RW, McPherson R, Waeber G, Bersot TP, Ma Q, Sharma SS, Middleton LT, Sundseth SS, Mooser V, Grundy SM, Farrer LA. Multiple QTLs influencing triglyceride and HDL cholesterol levels identified in families with atherogenic dyslipidemia. J Lip Research 2005; 46:2202-2213. PMID: 16061952. [pubmed]

Edwards AO, Ritter R, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science 2005; 308:421-424. PMID: 15761121. [pubmed]

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; 429:75-79. PMID: 15129283. [pubmed]

Green RC, Cupples LA, Go RCPG, Benke KS, Edeki T, Griffith PA, Williams M, Hipps Y, Graff-Radford N, Bachman D, Farrer LA, for the MIRAGE Study Group. Risk of dementia among white and African American relatives of patients with Alzheimer’s disease. JAMA 2002; 287:329-336. PMID: 11790212. [pubmed]

Yu G, Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, Song Y-Q, Rogaeva E, Chen F, Kawarai T, Supala A, Levesque L, Yu H, Yang D-S, Holmes E, Milman P, Liang Y, Zhang DM, Xu DH, Sato C, Rogaev E, Smith M, Janus C, Zhang Y, Aebersold R, Farrer LA, Sorbi S, Bruni A, Fraser P, St. George-Hyslop P. A novel protein (nicastrin) modulates presenilin-mediated notch/Glp1 and βAPP processing. Nature 2000; 407: 48-54. PMID: 10993067. [pubmed]

Farrer LA, Cupples LA, Haines JL, Hyman BT, Kukull WA, Mayeux R, Pericak-Vance MA, Risch N, van Duijn CM for the APOE and Alzheimer Disease Meta Analysis Consortium. Effects of age, gender and ethnicity on the association of apolipoprotein E genotype and Alzheimer disease. JAMA 1997; 278: 1349-1356. PMID: 9343467 [pubmed]

January 30, 2013
Primary teaching affiliate
of BU School of Medicine