Lindsay A. Farrer, PhD

Boston University Distinguished Professor of Genetics, Medicine

Lindsay Farrer
617.638.5393
72 E. Concord St Instructional (L)

Biography

Dr. Lindsay Farrer is a medical geneticist at Boston University Schools of Medicine and Public Health where he is the Boston University 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.

Other Positions

  • Section Chief, Biomedical Genetics, Medicine, Boston University School of Medicine
  • Professor, 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
  • 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 School of Medicine, Graduate Medical Sciences

Education

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

Classes Taught

  • GMSMS710

Publications

  • Published on 3/23/2022

    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. 2022 Mar 23. PMID: 35319157.

    Read at: PubMed
  • Published on 2/24/2022

    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.

    Read at: PubMed
  • Published on 2/14/2022

    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 Feb 14; 271678X211066299. PMID: 35156446.

    Read at: PubMed
  • Published on 2/9/2022

    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 Feb 09. PMID: 35258170.

    Read at: PubMed
  • Published on 2/9/2022

    Panitch R, Hu J, Xia W, Bennett DA, Stein TD, Farrer LA, Jun GR. Blood and brain transcriptome analysis reveals APOE genotype-mediated and immune-related pathways involved in Alzheimer disease. Alzheimers Res Ther. 2022 02 09; 14(1):30. PMID: 35139885.

    Read at: PubMed
  • Published on 2/9/2022

    Jun GR, You Y, Zhu C, Meng G, Chung J, Panitch R, Hu J, Xia W, Bennett DA, Foroud TM, Wang LS, Haines JL, Mayeux R, Pericak-Vance MA, Schellenberg GD, Au R, Lunetta KL, Ikezu T, Stein TD, Farrer LA. Protein phosphatase 2A and complement component 4 are linked to the protective effect of APOE ?2 for Alzheimer's disease. Alzheimers Dement. 2022 Feb 09. PMID: 35142023.

    Read at: PubMed
  • Published on 12/31/2021

    Xue D, Bush WS, Renton AE, Marcora EA, Bis JC, Kunkle BW, Boerwinkle E, DeStefano AL, Farrer L, Goate A, Mayeux R, Pericak-Vance M, Schellenberg G, Seshadri S, Wijsman E, Haines JL, Blue EE. Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease. Alzheimers Dement (Amst). 2021; 13(1):e12255. PMID: 35005195.

    Read at: PubMed
  • Published on 12/1/2021

    Hersh SW, You Y, 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. Alzheimers Dement. 2021 Dec; 17 Suppl 2:e058592. PMID: 34971140.

    Read at: PubMed
  • Published on 11/16/2021

    Park JY, Lee D, Lee JJ, Gim J, Gunasekaran TI, Choi KY, Kang S, Do AR, Jo J, Park J, Park K, Li D, Lee S, Kim H, Dhanasingh I, Ghosh S, Keum S, Choi JH, Song GJ, Sael L, Rhee S, Lovestone S, Kim E, Moon SH, Kim BC, Kim S, Saykin AJ, Nho K, Lee SH, Farrer LA, Jun GR, Won S, Lee KH. A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages. Transl Psychiatry. 2021 11 16; 11(1):590. PMID: 34785643.

    Read at: PubMed
  • Published on 10/2/2021

    Lim Y, Beane-Ebel JE, Tanaka Y, Ning B, Husted CR, Henderson DC, Xiang Y, Park IH, Farrer LA, Zhang H. Exploration of alcohol use disorder-associated brain miRNA-mRNA regulatory networks. Transl Psychiatry. 2021 10 02; 11(1):504. PMID: 34601489.

    Read at: PubMed

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