Lindsay A. Farrer PhD

Section Chief, Biomedical Genetics

Boston University Distinguished Professor of Genetics, Biomedical Genetics

72 E. Concord Street | (617) 638-5393
farrer@bu.edu

Sections

Biomedical Genetics

Centers

Framingham Heart Study

Evans Center for Interdisciplinary Biomedical Research

Biography

Dr. Lindsay Farrer is a medical geneticist at Boston University Schools of Medicine and Public Health where he is the Chobanian and Avedisian School of Medicine Distinguished Professor of Genetics, Chief of Biomedical Genetics, and a Professor of Medicine, Neurology, Ophthalmology, 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 addiction science at Boston University, directs the BU Transformative Training Program in Addiction Science (TTPAS) that features transdisciplinary training for students enrolled in PhD programs across the Medical and Charles River campuses, directs Boston University’s Molecular Genetics Core Facility which offers DNA genotyping and sequencing services to investigators at Boston University and elsewhere, and provides genetic counseling and testing to patients with a variety of inherited conditions.

Dr. Farrer’s research has lead to more than 450 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, most notably Alzheimer disease (AD), substance use disorders (SUDs), age-related macular degeneration (AMD), 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 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) and whole genome/exome sequencing studies for several disorders including AD, SUDs (cocaine, opiates, nicotine, alcohol and cannabis), and AMD. 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. 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, and identified rare AD causal mutations in the AKAP9 gene which are specific to African Americans. 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 is also a Principal Investigator of the national Alzheimer Disease Sequencing Project and a study to identify AD risk and protective variants in Koreans. in 2020, Dr. Farrer co-founded the Framingham Heart Study Brain Aging Program (FHS-BAP), an NIH-funded infrastructure program that continues surveillance of FHS participants for cognitive decline and dementia, conducts neuropsychological and brain MRI exams, houses the FHS brain tissue repository, and conducts several projects utilizing genetics, various omics, and wealth of phenotype data on FHS participants to develop predictive models, identify biomarkers and discern vascular and inflammatory processes leading to AD.

Other Positions

Websites

BU Profile

Biomedical Genetics Faculty

Ophthalmology Faculty

ResearchGate

Loop Frontiers

Whitaker Cardiovascular Institute's Training Program

Alzheimer's Disease Research Center

School of Public Health faculty

Education

Genetics & Genomics, PhD, Indiana University School of Medicine, 1985

Genetics & Genomics, BA, University of North Carolina at Chapel Hill, 1981

Publications

Published on 5/11/2023

Chung J, Sahelijo N, Maruyama T, Hu J, Panitch R, Xia W, Mez J, Stein TD, Saykin AJ, Takeyama H, Farrer LA, Crane PK, Nho K, Jun GR. Alzheimer's disease heterogeneity explained by polygenic risk scores derived from brain transcriptomic profiles. Alzheimers Dement. 2023 May 11. PMID: 37166019.

PubMed

Published on 5/9/2023

Lee Y, Park JY, Lee JJ, Gim J, Do AR, Jo J, Park J, Kim K, Park K, Jin H, Choi KY, Kang S, Kim H, Kim S, Moon SH, Farrer LA, Lee KH, Won S. Heritability of cognitive abilities and regional brain structures in middle-aged to elderly East Asians. Cereb Cortex. 2023 May 09; 33(10):6051-6062. PMID: 36642501.

PubMed

Published on 4/12/2023

Bai H, Naj AC, Benchek P, Dumitrescu L, Hohman T, Hamilton-Nelson K, Kallianpur AR, Griswold AJ, Vardarajan B, Martin ER, Beecham GW, Below JE, Schellenberg G, Mayeux R, Farrer L, Pericak-Vance MA, Haines JL, Bush WS. A haptoglobin (HP) structural variant alters the effect of APOE alleles on Alzheimer's disease. Alzheimers Dement. 2023 Apr 12. PMID: 37051669.

PubMed

Published on 2/21/2023

Le Guen Y, Raulin AC, Logue MW, Sherva R, Belloy ME, Eger SJ, Chen A, Kennedy G, Kuchenbecker L, O'Leary JP, Zhang R, Merritt VC, Panizzon MS, Hauger RL, Gaziano JM, Bu G, Thornton TA, Farrer LA, Napolioni V, He Z, Greicius MD. Association of African Ancestry-Specific APOE Missense Variant R145C With Risk of Alzheimer Disease. JAMA. 2023 Feb 21; 329(7):551-560. PMID: 36809323.

PubMed

Published on 2/16/2023

Puri S, Hu J, Sun Z, Lin M, Stein TD, Farrer LA, Wolozin B, Zhang X. Identification of circRNAs linked to Alzheimer's disease and related dementias. Alzheimers Dement. 2023 Feb 16. PMID: 36795937.

PubMed

Published on 2/9/2023

de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa D, Grünblatt E, Dardiotis E, Düzel E, Scarpini E, Conti E, Rubino E, Gelpi E, Rodriguez-Rodriguez E, Duron E, Boerwinkle E, Ferri E, Tagliavini F, Küçükali F, Pasquier F, Sanchez-Garcia F, Mangialasche F, Jessen F, Nicolas G, Selbæk G, Ortega G, Chêne G, Hadjigeorgiou G, Rossi G, Spalletta G, Giaccone G, Grande G, Binetti G, Papenberg G, Hampel H, Bailly H, Zetterberg H, Soininen H, Karlsson IK, Alvarez I, Appollonio I, Giegling I, Skoog I, Saltvedt I, Rainero I, Rosas Allende I, Hort J, Diehl-Schmid J, Van Dongen J, Vidal JS, Lehtisalo J, Wiltfang J, Thomassen JQ, Kornhuber J, Haines JL, Vogelgsang J, Pineda JA, Fortea J, Popp J, Deckert J, Buerger K, Morgan K, Fließbach K, Sleegers K, Molina-Porcel L, Kilander L, Weinhold L, Farrer LA, Wang LS, Kleineidam L, Farotti L, Parnetti L, Tremolizzo L, Hausner L, Benussi L, Froelich L, Ikram MA, Deniz-Naranjo MC, Tsolaki M, Rosende-Roca M, Löwenmark M, Hulsman M, Spallazzi M, Pericak-Vance MA, Esiri M, Bernal Sánchez-Arjona M, Dalmasso MC, Martínez-Larrad MT, Arcaro M, Nöthen MM, Fernández-Fuertes M, Dichgans M, Ingelsson M, Herrmann MJ, Scherer M, Vyhnalek M, Kosmidis MH, Yannakoulia M, Schmid M, Ewers M, Heneka MT, Wagner M, Scamosci M, Kivipelto M, Hiltunen M, Zulaica M, Alegret M, Fornage M, Roberto N, van Schoor NM, Seidu NM, Banaj N, Armstrong NJ, Scarmeas N, Scherbaum N, Goldhardt O, Hanon O, Peters O, Skrobot OA, Quenez O, Lerch O, Bossù P, Caffarra P, Dionigi Rossi P, Sakka P, Mecocci P, Hoffmann P, Holmans PA, Fischer P, Riederer P, Yang Q, Marshall R, Kalaria RN, Mayeux R, Vandenberghe R, Cecchetti R, Ghidoni R, Frikke-Schmidt R, Sorbi S, Hägg S, Engelborghs S, Helisalmi S, Botne Sando S, Kern S, Archetti S, Boschi S, Fostinelli S, Gil S, Mendoza S, Mead S, Ciccone S, Djurovic S, Heilmann-Heimbach S, Riedel-Heller S, Kuulasmaa T, Del Ser T, Lebouvier T, Polak T, Ngandu T, Grimmer T, Bessi V, Escott-Price V, Giedraitis V, Deramecourt V, Maier W, Jian X, Pijnenburg YAL, Kehoe PG, Garcia-Ribas G, Sánchez-Juan P, Pastor P, Pérez-Tur J, Piñol-Ripoll G, Lopez de Munain A, García-Alberca JM, Bullido MJ, Álvarez V, Lleó A, Real LM, Mir P, Medina M, Scheltens P, Holstege H, Marquié M, Sáez ME, Carracedo Á, Amouyel P, Schellenberg GD, Williams J, Seshadri S, van Duijn CM, Mather KA, Sánchez-Valle R, Serrano-Ríos M, Orellana A, Tárraga L, Blennow K, Huisman M, Andreassen OA, Posthuma D, Clarimón J, Boada M, van der Flier WM, Ramirez A, Lambert JC, van der Lee SJ, Ruiz A. Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2023 Feb 09; 14(1):716. PMID: 36759603.

PubMed

Published on 2/7/2023

Marini S, Chung J, Han X, Sun X, Parodi L, Farrer LA, Rosand J, Romero JR, Anderson CD. Pleiotropy analysis between lobar intracerebral hemorrhage and CSF ß-amyloid highlights new and established associations. Int J Stroke. 2023 Feb 07; 17474930231155816. PMID: 36705426.

PubMed

Published on 1/18/2023

Wang Y, Huang J, Ang TFA, Zhu Y, Tao Q, Mez J, Alosco M, Denis GV, Belkina A, Gurnani A, Ross M, Gong B, Han J, Lunetta KL, Stein TD, Au R, Farrer LA, Zhang X, Qiu WQ. Circulating Endothelial Progenitor Cells Reduce the Risk of Alzheimer's Disease. medRxiv. 2023 Jan 18. PMID: 36711847.

PubMed

Published on 12/23/2022

Chung J, Vig V, Sun X, Han X, O'Connor GT, Chen X, DeAngelis MM, Farrer LA, Subramanian ML. Genome-Wide Pleiotropy Study Identifies Association of PDGFB with Age-Related Macular Degeneration and COVID-19 Infection Outcomes. J Clin Med. 2022 Dec 23; 12(1). PMID: 36614910.

PubMed

Published on 12/22/2022

Sherva R, Zhang R, Sahelijo N, Jun G, Anglin T, Chanfreau C, Cho K, Fonda JR, Gaziano JM, Harrington KM, Ho YL, Kremen WS, Litkowski E, Lynch J, Neale Z, Roussos P, Marra D, Mez J, Miller MW, Salat DH, Tsuang D, Wolf E, Zeng Q, Panizzon MS, Merritt VC, Farrer LA, Hauger RL, Logue MW. African ancestry GWAS of dementia in a large military cohort identifies significant risk loci. Mol Psychiatry. 2023 Mar; 28(3):1293-1302. PMID: 36543923.

PubMed

View full list of 617 publications.