Lindsay Farrer, PhD

Lindsay Farrer, PhD

Professor of Medicine, Neurology, Ophthalmology,
Genetics & Genomics, Epidemiology, &
Chief, Genetics Program

Phone: 617.638.5393





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 within 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

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. (In press)

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. (In press)

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 Mar 8 (Epub ahead of print).

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 2010 Oct 25 (Epub ahead of print). PMID: 20980077.

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; 69:47-64.

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. Epub 2009 Dec 16.

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.

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.

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.

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.

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.

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;12: 415-422.

Kennedy JL, Farrer LA, Andreasen NC, Mayeux R, St. George-Hyslop P.
The genetics of adult-onset neuropsychiatric disease: complexities and
conundra? Science 2003; 302: 822-826

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; 287: 329-336.

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; 59:594-600.

Riazanskaya N, Lukiw WJ, Grigorenko A, Korovaitseva G, , Molyaka Y,
Nicolaou M, Farrer L, 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; 7:891-898.