Lindsay A. Farrer, PhD

Boston University Distinguished Professor of Genetics, Boston University Chobanian & Avedisian School of Medicine

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.

Publications

  • Published 4/9/2025

    Han X, Zhang Y, Petrosky JN, Bald S, Sherva RM, Labadorf A, Cherry JD, Chung J, Farrell K, Abdolmohammadi B, Durape S, Martin BM, Palmisano JN, Farrell JJ, Alvarez VE, Huber BR, Dwyer B, Daneshvar DH, Dams-O'Connor K, Jun GR, Lunetta KL, Goldstein LE, Katz DI, Cantu RC, Shenton ME, Cummings JL, Reiman EM, Stern RA, Alosco ML, Tripodis Y, Farrer LA, Stein TD, Crary JF, McKee AC, Mez J. A structural haplotype in the 17q21.31 MAPT region is associated with increased risk for chronic traumatic encephalopathy endophenotypes. Cell Rep Med. 2025 Apr 09; 102084. PMID: 40239644.

    Read at: PubMed

  • Published 3/28/2025

    Labonte J, Sugarman MA, Pettway E, Zetterberg H, Blennow K, Ashton NJ, Karikari TK, Aparicio HJ, Frank B, Tripodis Y, Martin B, Palmisano JN, Steinberg EG, Simkin I, Farrer LA, Jun GR, Turk KW, Budson AE, O'Connor MK, Au R, Goldstein LE, Stern RA, Stein TD, McKee AC, Qiu WQ, Mez J, Banks SJ, Alosco ML. Sex differences on tau, astrocytic, and neurodegenerative plasma biomarkers. J Alzheimers Dis. 2025 Mar 28; 13872877251329468. PMID: 40151917.

    Read at: PubMed

  • Published 3/20/2025

    Phillips JM, Dumitrescu LC, Archer DB, Regelson AN, Mukherjee S, Lee ML, Choi SE, Scollard P, Trittschuh EH, Kukull WA, Biber S, Mez J, Mahoney ER, Clifton M, Libby JB, Walters S, Bush WS, Engelman CD, Lu Q, Fardo DW, Widaman KF, Buckley RF, Mormino EC, Sanders RE, Clark LR, Gifford KA, Vardarajan B, Cuccaro ML, Pericak-Vance MA, Farrer LA, Wang LS, Schellenberg GD, Haines JL, Jefferson AL, Johnson SC, Albert MS, Keene CD, Saykin AJ, Risacher SL, Larson EB, Sperling RA, Mayeux R, Goate AM, Renton AE, Marcora E, Fulton-Howard B, Patel T, Bennett DA, Schneider JA, Barnes LL, Cruchaga C, Hassenstab J, Belloy ME, Andrews SJ, Resnick SM, Bilgel M, An Y, Beason-Held LL, Walker KA, Duggan MR, Klinedinst BS, Crane PK, Hohman TJ. Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer's disease. Brain. 2025 Mar 20. PMID: 40111762.

    Read at: PubMed

  • Published 3/1/2025

    Rehman H, Ang TFA, Tao Q, Au R, Farrer LA, Qiu WQ, Zhang X. Plasma protein risk scores for mild cognitive impairment and Alzheimer's disease in the Framingham heart study. Alzheimers Dement. 2025 Mar; 21(3):e70066. PMID: 40156298.

    Read at: PubMed

  • Published 2/13/2025

    Kang M, Ang TFA, Devine SA, Sherva R, Mukherjee S, Trittschuh EH, Gibbons LE, Scollard P, Lee M, Choi SE, Klinedinst B, Nakano C, Dumitrescu LC, Hohman TJ, Cuccaro ML, Saykin AJ, Kukull WA, Bennett DA, Wang LS, Mayeux RP, Haines JL, Pericak-Vance MA, Schellenberg GD, Crane PK, Au R, Lunetta KL, Mez J, Farrer LA. Genome-wide pleiotropy analysis of longitudinal blood pressure and harmonized cognitive performance measures. medRxiv. 2025 Feb 13. PMID: 39990565.

    Read at: PubMed

Other Positions

  • Section Chief, Medicine
    Boston University Chobanian & Avedisian School of Medicine
  • Professor, Medicine
    Boston University Chobanian & Avedisian School of Medicine
  • Professor, Ophthalmology
    Boston University Chobanian & Avedisian School of Medicine
  • Professor, Neurology
    Boston University Chobanian & Avedisian School of Medicine
  • Professor, Biostatistics
    Boston University School of Public Health
  • Professor, Epidemiology
    Boston University School of Public Health
  • Investigator
    Framingham Heart Study
  • Member, Evans Center for Interdisciplinary Biomedical Research
    Boston University
  • Member, Genome Science Institute
    Boston University
  • Member, Bioinformatics Graduate Program
    Boston University
  • Graduate Faculty (Primary Mentor of Grad Students)
    Boston University Chobanian & Avedisian School of Medicine, Graduate Medical Sciences

Education

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