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, 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, Division of Graduate Medical Sciences
- Member, Bioinformatics Graduate Program, Boston University
- Indiana University School of Medicine, PhD
- University of North Carolina at Chapel Hill, BA
- Published on 3/7/2018
Ikezu T, Chen C, DeLeo AM, Zeldich E, Fallin MD, Kanaan NM, Lunetta KL, Abraham CR, Logue MW, Farrer LA. Tau Phosphorylation is Impacted by Rare AKAP9 Mutations Associated with Alzheimer Disease in African Americans. J Neuroimmune Pharmacol. 2018 Mar 07. PMID: 29516269.
- Published on 2/27/2018
Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C, DeStefano A, Farrer LA, Goate A, Haines J, Jaworski J, Jun G, Kunkle B, Kuzma A, Lee JJ, Lunetta KL, Ma Y, Martin E, Naj A, Nato AQ, Navas P, Nguyen H, Reitz C, Reyes D, Salerno W, Schellenberg GD, Seshadri S, Sohi H, Thornton TA, Valadares O, van Duijn C, Vardarajan BN, Wang LS, Boerwinkle E, Dupuis J, Pericak-Vance MA, Mayeux R, Wijsman EM. Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. Dement Geriatr Cogn Disord. 2018 02 27; 45(1-2):1-17. PMID: 29486463.
- Published on 2/20/2018
Chung J, Zhang X, Allen M, Wang X, Ma Y, Beecham G, Montine TJ, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Lunetta KL, Mez J, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg G, Jun GR, Farrer LA. Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease. Alzheimers Res Ther. 2018 Feb 20; 10(1):22. PMID: 29458411.
- Published on 1/11/2018
Cheng Z, Zhou H, Sherva R, Farrer LA, Kranzler HR, Gelernter J. Genome-wide Association Study Identifies a Regulatory Variant of RGMA Associated With Opioid Dependence in European Americans. Biol Psychiatry. 2018 Jan 11. PMID: 29478698.
- Published on 12/20/2017
Chung J, Wang X, Maruyama T, Ma Y, Zhang X, Mez J, Sherva R, Takeyama H, Lunetta KL, Farrer LA, Jun GR. Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Alzheimers Dement. 2017 Dec 20. PMID: 29274321.
- Published on 12/1/2017
Zhou H, Polimanti R, Yang BZ, Wang Q, Han S, Sherva R, Nuñez YZ, Zhao H, Farrer LA, Kranzler HR, Gelernter J. Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. JAMA Psychiatry. 2017 Dec 01; 74(12):1234-1241. PMID: 29071344.
- Published on 12/1/2017
Tielbeek JJ, Johansson A, Polderman TJC, Rautiainen MR, Jansen P, Taylor M, Tong X, Lu Q, Burt AS, Tiemeier H, Viding E, Plomin R, Martin NG, Heath AC, Madden PAF, Montgomery G, Beaver KM, Waldman I, Gelernter J, Kranzler HR, Farrer LA, Perry JRB, Munafò M, LoParo D, Paunio T, Tiihonen J, Mous SE, Pappa I, de Leeuw C, Watanabe K, Hammerschlag AR, Salvatore JE, Aliev F, Bigdeli TB, Dick D, Faraone SV, Popma A, Medland SE, Posthuma D. Genome-Wide Association Studies of a Broad Spectrum of Antisocial Behavior. JAMA Psychiatry. 2017 Dec 01; 74(12):1242-1250. PMID: 28979981.
- Published on 11/27/2017
Polimanti R, Amstadter AB, Stein MB, Almli LM, Baker DG, Bierut LJ, Bradley B, Farrer LA, Johnson EO, King A, Kranzler HR, Maihofer AX, Rice JP, Roberts AL, Saccone NL, Zhao H, Liberzon I, Ressler KJ, Nievergelt CM, Koenen KC, Gelernter J. A putative causal relationship between genetically determined female body shape and posttraumatic stress disorder. Genome Med. 2017 Nov 27; 9(1):99. PMID: 29178946.
- Published on 11/17/2017
Farrer LA, DeAngelis MM. Human induced pluripotent stem cells illuminate pathways and novel treatment targets for age-related macular degeneration. Stem Cell Investig. 2017; 4:92. PMID: 29270418.
- Published on 11/7/2017
Agrawal A, Chou YL, Carey CE, Baranger DAA, Zhang B, Sherva R, Wetherill L, Kapoor M, Wang JC, Bertelsen S, Anokhin AP, Hesselbrock V, Kramer J, Lynskey MT, Meyers JL, Nurnberger JI, Rice JP, Tischfield J, Bierut LJ, Degenhardt L, Farrer LA, Gelernter J, Hariri AR, Heath AC, Kranzler HR, Madden PAF, Martin NG, Montgomery GW, Porjesz B, Wang T, Whitfield JB, Edenberg HJ, Foroud T, Goate AM, Bogdan R, Nelson EC. Genome-wide association study identifies a novel locus for cannabis dependence. Mol Psychiatry. 2017 Nov 07. PMID: 29112194.
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