Lindsay Farrer, PhD Hear my name
Boston University Distinguished Professor of Genetics
Boston University Chobanian & Avedisian School of Medicine
Dept of Medicine
Biomedical Genetics

PhD, Indiana University School of Medicine
BA, University of North Carolina at Chapel Hill

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.

Diversity, Equity, Inclusion and Accessibility

My doctoral training in medical genetics introduced me to disorders whose risk and impact on families vary widely according to cultural, social and economic circumstances. This experience also convinced me that the impact of physical and mental disability is greatly influenced by access to treatment and support programs, as well as the family and community environment.

I have designed and led studies, and published many papers about the genetic basis of Alzheimer disease (AD), age-related macular degeneration, hypertension and sickle cell disease in marginalized populations. Many of these papers highlight the population genetic differences related to disease and the scientific and translational medicine benefits of trans-ethnic studies. My lab discovered two rare African-American specific variants in a novel gene that are associated with greatly elevated risk of AD in African Americans. Currently, I am the Principal Investigator (PI) of grants focused on AD genetics in African Americans and Koreans, respectively.

As PI of the Framingham Heart Study Brain Aging Program (FHS-BAP), my research team launched several initiatives to attract and train a diverse group of individuals, particularly those who are not well-represented in biomedical research, at the undergraduate, graduate, post-doctoral and junior faculty levels. International symposia organized by the FHS-BAP emphasize DEIA issues including enrolling marginalized populations in research, the incorporation of social determinants of health in genetic and epidemiological studies, and female and non-White speakers.

As a mentor and Chief of a research section in which White male faculty are the minority, I have sought and promoted the advancement of female and non-White trainees, many of whom have advanced to successful careers in academia and private industry. Since 2007, I have served on Steering Committee of PhenX, a project funded by the National Human Genome Research Institute that is building a set of consensus standards for measures of phenotypes and exposures with particular emphasis on protocols that consider diversity and accessibility.

Section Chief
Boston University Chobanian & Avedisian School of Medicine
Biomedical Genetics

Boston University Chobanian & Avedisian School of Medicine
Biomedical Genetics

Boston University Chobanian & Avedisian School of Medicine

Boston University Chobanian & Avedisian School of Medicine

Boston University School of Public Health

Boston University School of Public Health

Framingham Heart Study

Boston University
Evans Center for Interdisciplinary Biomedical Research

Boston University
Genome Science Institute

Boston University
Bioinformatics Graduate Program

Graduate Faculty (Primary Mentor of Grad Students)
Boston University Chobanian & Avedisian School of Medicine, Graduate Medical Sciences

Boston University Alzheimer's Disease Research Center
08/15/2021 - 06/30/2026 (Key Person)
PI: Ann C. McKee, MD
NIH/National Institute on Aging

Precision Monitoring and Assessment in the Framingham Study: Cognitive, MRI, Genetic and Biomarker Precursors of AD & Dementia
09/15/2020 - 05/31/2025 (Multi-PI)
PI: Lindsay Farrer, PhD
NIH/National Institute on Aging

Alzheimer Disease Genetic Architecture in African Americans
05/15/2020 - 04/30/2025 (PI)
NIH/National Institute on Aging

Genetic Studies of Alzheimer Disease in Koreans
09/15/2019 - 08/31/2024 (PI)
NIH/National Institute on Aging

The Alzheimer Disease Sequencing Analysis Collaborative
09/30/2018 - 08/31/2023 (Subcontract PI)
Case Western Reserve University NIH NIA

Effects of Opioid Use Disorder in Pregnancy on Long-term Maternal and Child Outcomes
09/15/2018 - 06/30/2023 (Subcontract PI)
Trustees of Indiana University NIH NICHD

Genome Center for Alzheimer's Disease
04/15/2021 - 03/31/2023 (Subcontract PI)
The Trustees of the University of Pennsylvania NIH NIA

Genome Center for Alzheimer's Disease (GCAD) - Core B
04/15/2021 - 03/31/2023 (Subcontract PI)
The Trustees of the University of Pennsylvania NIH NIA

Alzheimer Disease Genetics Consortium
04/15/2020 - 03/31/2023 (Subcontract PI)
The Trustees of the University of Pennsylvania NIH NIA

Institutional Program Unifying Population and Laboratory Based Sciences Award
02/01/2013 - 01/31/2023 (PI)
Burroughs Wellcome Fund

Showing 10 of 41 results. Show All Results


Yr Title Project-Sub Proj Pubs
2022 Core G: Genetics and Molecular Profiling 5P30AG072978-02-9747
2022 Admin Core 5U19AG068753-03-8035
2022 Genomic, physiological, and environmental predictors of AD risk, resilience and resistance 5U19AG068753-03-8039
2022 Precision Monitoring and Assessment in the Framingham Study: Cognitive, MRI, Genetic and Biomarker Precursors of AD & Dementia 5U19AG068753-03
2022 Genetic Studies of Alzheimer Disease in Koreans 5U01AG062602-04
2022 The Alzheimer Disease Sequence Analysis Collaborative 5U01AG058654-05
2021 Core G: Genetics and Molecular Profiling 1P30AG072978-01-9747
2021 Precision Monitoring and Assessment in the Framingham Study: Cognitive, MRI, Genetic and Biomarker Precursors of AD & Dementia 3U19AG068753-02S1
2021 Precision Monitoring and Assessment in the Framingham Study: Cognitive, MRI, Genetic and Biomarker Precursors of AD & Dementia 3U19AG068753-02S2
2021 Genomic, physiological, and environmental predictors of AD risk, resilience and resistance 5U19AG068753-02-8039
Showing 10 of 73 results. Show All Results

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.

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  1. Atherton K, Han X, Chung J, Cherry JD, Baucom Z, Saltiel N, Nair E, Abdolmohammadi B, Uretsky M, Khan MM, Shea C, Durape S, Martin BM, Palmisano JN, Farrell K, Nowinski CJ, Alvarez VE, Dwyer B, Daneshvar DH, Katz DI, Goldstein LE, Cantu RC, Kowall NW, Alosco ML, Huber BR, Tripodis Y, Crary JF, Farrer L, Stern RA, Stein TD, McKee AC, Mez J. Association of APOE Genotypes and Chronic Traumatic Encephalopathy. JAMA Neurol. 2022 Aug 01; 79(8):787-796.View Related Profiles. PMID: 35759276; PMCID: PMC9237800; DOI: 10.1001/jamaneurol.2022.1634;
  2. Eissman JM, Dumitrescu L, Mahoney ER, Smith AN, Mukherjee S, Lee ML, Scollard P, Choi SE, Bush WS, Engelman CD, Lu Q, Fardo DW, Trittschuh EH, Mez J, Kaczorowski CC, Hernandez Saucedo H, Widaman KF, Buckley RF, Properzi MJ, Mormino EC, Yang HS, Harrison TM, Hedden T, Nho K, Andrews SJ, Tommet D, Hadad N, Sanders RE, Ruderfer DM, Gifford KA, Zhong X, Raghavan NS, Vardarajan BN, Pericak-Vance MA, Farrer LA, Wang LS, Cruchaga C, Schellenberg GD, Cox NJ, Haines JL, Keene CD, Saykin AJ, Larson EB, Sperling RA, Mayeux R, Cuccaro ML, Bennett DA, Schneider JA, Crane PK, Jefferson AL, Hohman TJ. Sex differences in the genetic architecture of cognitive resilience to Alzheimer's disease. Brain. 2022 Jul 29; 145(7):2541-2554.View Related Profiles. PMID: 35552371; PMCID: PMC9337804; DOI: 10.1093/brain/awac177;
  3. Chung J, Das A, Sun X, Sobreira DR, Leung YY, Igartua C, Mozaffari S, Chou YF, Thiagalingam S, Mez J, Zhang X, Jun GR, Stein TD, Kunkle BW, Martin ER, Pericak-Vance MA, Mayeux R, Haines JL, Schellenberg GD, Nobrega MA, Lunetta KL, Pinto JM, Wang LS, Ober C, Farrer LA. Genome-wide association and multi-omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women. Alzheimers Dement. 2022 Jun 30.View Related Profiles. PMID: 35770850; PMCID: PMC9800643; DOI: 10.1002/alz.12719;
  4. You Y, Hersh SW, Aslebagh R, Shaffer SA, Ikezu S, Mez J, Lunetta KL, Logue MW, Farrer LA, Ikezu T. Alzheimer's disease associated AKAP9 I2558M mutation alters posttranslational modification and interactome of tau and cellular functions in CRISPR-edited human neuronal cells. Aging Cell. 2022 Jun; 21(6):e13617.View Related Profiles. PMID: 35567427; PMCID: PMC9197405; DOI: 10.1111/acel.13617;
  5. Olayinka OA, O'Neill NK, Farrer LA, Wang G, Zhang X. Molecular Quantitative Trait Locus Mapping in Human Complex Diseases. Curr Protoc. 2022 May; 2(5):e426. PMID: 35587224; PMCID: PMC9186089; DOI: 10.1002/cpz1.426;
  6. Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M, Diehl-Schmid J, Diez-Fairen M, Rossi PD, Djurovic S, Duron E, Düzel E, Dufouil C, Eiriksdottir G, Engelborghs S, Escott-Price V, Espinosa A, Ewers M, Faber KM, Fabrizio T, Nielsen SF, Fardo DW, Farotti L, Fenoglio C, Fernández-Fuertes M, Ferrari R, Ferreira CB, Ferri E, Fin B, Fischer P, Fladby T, Fließbach K, Fongang B, Fornage M, Fortea J, Foroud TM, Fostinelli S, Fox NC, Franco-Macías E, Bullido MJ, Frank-García A, Froelich L, Fulton-Howard B, Galimberti D, García-Alberca JM, García-González P, Garcia-Madrona S, Garcia-Ribas G, Ghidoni R, Giegling I, Giorgio G, Goate AM, Goldhardt O, Gomez-Fonseca D, González-Pérez A, Graff C, Grande G, Green E, Grimmer T, Grünblatt E, Grunin M, Gudnason V, Guetta-Baranes T, Haapasalo A, Hadjigeorgiou G, Haines JL, Hamilton-Nelson KL, Hampel H, Hanon O, Hardy J, Hartmann AM, Hausner L, Harwood J, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernández I, Herrmann MJ, Hoffmann P, Holmes C, Holstege H, Vilas RH, Hulsman M, Humphrey J, Biessels GJ, Jian X, Johansson C, Jun GR, Kastumata Y, Kauwe J, Kehoe PG, Kilander L, Ståhlbom AK, Kivipelto M, Koivisto A, Kornhuber J, Kosmidis MH, Kukull WA, Kuksa PP, Kunkle BW, Kuzma AB, Lage C, Laukka EJ, Launer L, Lauria A, Lee CY, Lehtisalo J, Lerch O, Lleó A, Longstreth W, Lopez O, de Munain AL, Love S, Löwemark M, Luckcuck L, Lunetta KL, Ma Y, Macías J, MacLeod CA, Maier W, Mangialasche F, Spallazzi M, Marquié M, Marshall R, Martin ER, Montes AM, Rodríguez CM, Masullo C, Mayeux R, Mead S, Mecocci P, Medina M, Meggy A, Mehrabian S, Mendoza S, Menéndez-González M, Mir P, Moebus S, Mol M, Molina-Porcel L, Montrreal L, Morelli L, Moreno F, Morgan K, Mosley T, Nöthen MM, Muchnik C, Mukherjee S, Nacmias B, Ngandu T, Nicolas G, Nordestgaard BG, Olaso R, Orellana A, Orsini M, Ortega G, Padovani A, Paolo C, Papenberg G, Parnetti L, Pasquier F, Pastor P, Peloso G, Pérez-Cordón A, Pérez-Tur J, Pericard P, Peters O, Pijnenburg YAL, Pineda JA, Piñol-Ripoll G, Pisanu C, Polak T, Popp J, Posthuma D, Priller J, Puerta R, Quenez O, Quintela I, Thomassen JQ, Rábano A, Rainero I, Rajabli F, Ramakers I, Real LM, Reinders MJT, Reitz C, Reyes-Dumeyer D, Ridge P, Riedel-Heller S, Riederer P, Roberto N, Rodriguez-Rodriguez E, Rongve A, Allende IR, Rosende-Roca M, Royo JL, Rubino E, Rujescu D, Sáez ME, Sakka P, Saltvedt I, Sanabria Á, Sánchez-Arjona MB, Sanchez-Garcia F, Juan PS, Sánchez-Valle R, Sando SB, Sarnowski C, Satizabal CL, Scamosci M, Scarmeas N, Scarpini E, Scheltens P, Scherbaum N, Scherer M, Schmid M, Schneider A, Schott JM, Selbæk G, Seripa D, Serrano M, Sha J, Shadrin AA, Skrobot O, Slifer S, Snijders GJL, Soininen H, Solfrizzi V, Solomon A, Song Y, Sorbi S, Sotolongo-Grau O, Spalletta G, Spottke A, Squassina A, Stordal E, Tartan JP, Tárraga L, Tesí N, Thalamuthu A, Thomas T, et al. NewView Related Profiles. PMID: 35379992; PMCID: PMC9005347; DOI: 10.1038/s41588-022-01024-z;
  7. Zhang X, Tong T, Chang A, Ang TFA, Tao Q, Auerbach S, Devine S, Qiu WQ, Mez J, Massaro J, Lunetta KL, Au R, Farrer LA. Midlife lipid and glucose levels are associated with Alzheimer's disease. Alzheimers Dement. 2023 Jan; 19(1):181-193.View Related Profiles. PMID: 35319157
  8. Jin B, Capra JA, Benchek P, Wheeler N, Naj AC, Hamilton-Nelson KL, Farrell JJ, Leung YY, Kunkle B, Vadarajan B, Schellenberg GD, Mayeux R, Wang LS, Farrer LA, Pericak-Vance MA, Martin ER, Haines JL, Crawford DC, Bush WS. An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns. Genome Res. 2022 Apr; 32(4):778-790. PMID: 35210353; PMCID: PMC8997344; DOI: 10.1101/gr.276069.121;
  9. Shade LM, Katsumata Y, Hohman TJ, Nho K, Saykin AJ, Mukherjee S, Boehme KL, Kauwe JS, Farrer LA, Schellenberg GD, Haines JL, Mayeux RP, Schneider JA, Nelson PT, Fardo DW. Genome-wide association study of brain arteriolosclerosis. J Cereb Blood Flow Metab. 2022 Aug; 42(8):1437-1450. PMID: 35156446; PMCID: PMC9274864; DOI: 10.1177/0271678X211066299;
  10. Vardarajan BN, Reyes-Dumeyer D, Piriz AL, Lantigua RA, Medrano M, Rivera D, Jiménez-Velázquez IZ, Martin E, Pericak-Vance MA, Bush W, Farrer L, Haines JL, Wang LS, Leung YY, Schellenberg G, Kukull W, De Jager P, Bennett DA, Schneider JA, Mayeux R. Progranulin mutations in clinical and neuropathological Alzheimer's disease. Alzheimers Dement. 2022 Dec; 18(12):2458-2467. PMID: 35258170; PMCID: PMC9360185; DOI: 10.1002/alz.12567;
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