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

Professor
Boston University Chobanian & Avedisian School of Medicine
Medicine
Biomedical Genetics

Professor
Boston University Chobanian & Avedisian School of Medicine
Ophthalmology


Professor
Boston University Chobanian & Avedisian School of Medicine
Neurology


Professor
Boston University School of Public Health
Biostatistics


Professor
Boston University School of Public Health
Epidemiology


Investigator
Framingham Heart Study


Member
Boston University
Evans Center for Interdisciplinary Biomedical Research


Member
Boston University
Genome Science Institute


Member
Boston University
Bioinformatics Graduate Program


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




Genetic Studies of Alzheimer's Disease in Jewish and Arab Populations
09/01/2023 - 08/31/2028 (Multi-PI)
PI: Lindsay Farrer, PhD
NIH/National Institute on Aging
1U01AG081230-01

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
5P30AG072978-03

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
5U19AG068753-04

Alzheimer Disease Genetic Architecture in African Americans
05/15/2020 - 04/30/2025 (PI)
NIH/National Institute on Aging
5R01AG048927-10

Genome Center for Alzheimer's Disease
04/15/2021 - 03/31/2025 (Subcontract PI)
The Trustees of the University of Pennsylvania NIH NIA
5U54AG052427-08

Genome Center for Alzheimer's Disease (GCAD) - Core B
04/15/2021 - 03/31/2025 (Subcontract PI)
The Trustees of the University of Pennsylvania NIH NIA
5U54AG052427-08

Alzheimer Disease Genetics Consortium
04/15/2020 - 03/31/2025 (Subcontract PI)
The Trustees of the University of Pennsylvania NIH NIA
5U01AG032984-14

Genetic Studies of Alzheimer Disease in Koreans
09/15/2019 - 08/31/2024 (PI)
NIH/National Institute on Aging
5U01AG062602-05

Metabolomic Signatures for Disease Sub-classification and Target Prioritization in AMP-AD
01/21/2019 - 08/31/2024 (Subcontract PI)
Duke University NIH NIA
5U01AG061359-05

The Alzheimer Disease Sequencing Analysis Collaborative
09/30/2018 - 08/31/2024 (Multi-PI)
PI: Lindsay Farrer, PhD
Case Western Reserve University NIH NIA
5U01AG058654-05

Showing 10 of 43 results. Show All Results


Title


Yr Title Project-Sub Proj Pubs
2024 Alzheimer Disease Genetic Architecture in African Americans 5R01AG048927-10
2023 Genetic Studies of Alzheimer's Disease in Jewish and Arab Populations 1U01AG081230-01
2023 Core G: Genetics and Molecular Profiling 5P30AG072978-03-9747
2023 Precision Monitoring and Assessment in the Framingham Study: Cognitive, MRI, Genetic and Biomarker Precursors of AD & Dementia 5U19AG068753-04
2023 Admin Core 5U19AG068753-04-8052
2023 Genomic, physiological, and environmental predictors of AD risk, resilience and resistance 5U19AG068753-04-8059
2023 Genetic Studies of Alzheimer Disease in Koreans 5U01AG062602-05
2023 Alzheimer Disease Genetic Architecture in African Americans 5R01AG048927-09
2022 Core G: Genetics and Molecular Profiling 5P30AG072978-02-9747
2022 Admin Core 5U19AG068753-03-8035
Showing 10 of 81 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.

iCite Analysis       Copy PMIDs To Clipboard

  1. Panitch R, Sahelijo N, Hu J, Nho K, Bennett DA, Lunetta KL, Au R, Stein TD, Farrer LA, Jun GR. APOE genotype-specific methylation patterns are linked to Alzheimer disease pathology and estrogen response. Transl Psychiatry. 2024 Feb 29; 14(1):129.View Related Profiles. PMID: 38424036; PMCID: PMC10904829; DOI: 10.1038/s41398-024-02834-x;
     
  2. Malamon JS, Farrell JJ, Xia LC, Dombroski BA, Das RG, Way J, Kuzma AB, Valladares O, Leung YY, Scanlon AJ, Lopez IAB, Brehony J, Worley KC, Zhang NR, Wang LS, Farrer LA, Schellenberg GD, Lee WP, Vardarajan BN. A comparative study of structural variant calling in WGS from Alzheimer's disease families. Life Sci Alliance. 2024 May; 7(5). PMID: 38418088; PMCID: PMC10902710; DOI: 10.26508/lsa.202302181;
     
  3. Leung YY, Naj AC, Chou YF, Valladares O, Schmidt M, Hamilton-Nelson K, Wheeler N, Lin H, Gangadharan P, Qu L, Clark K, Kuzma AB, Lee WP, Cantwell L, Nicaretta H, Haines J, Farrer L, Seshadri S, Brkanac Z, Cruchaga C, Pericak-Vance M, Mayeux RP, Bush WS, Destefano A, Martin E, Schellenberg GD, Wang LS. Human whole-exome genotype data for Alzheimer's disease. Nat Commun. 2024 Jan 23; 15(1):684.View Related Profiles. PMID: 38263370; PMCID: PMC10805795; DOI: 10.1038/s41467-024-44781-7;
     
  4. Vance JM, Farrer LA, Huang Y, Cruchaga C, Hyman BT, Pericak-Vance MA, Goate AM, Greicius MD, Griswold AJ, Haines JL, Tcw J, Schellenberg GD, Tsai LH, Herz J, Holtzman DM. Report of the APOE4 National Institute on Aging/Alzheimer Disease Sequencing Project Consortium Working Group: Reducing APOE4 in Carriers is a Therapeutic Goal for Alzheimer's Disease. Ann Neurol. 2024 Apr; 95(4):625-634.View Related Profiles. PMID: 38180638
     
  5. Rehman H, Ang TFA, Tao Q, Espenilla AL, Au R, Farrer LA, Zhang X, Qiu WQ. Comparison of Commonly Measured Plasma and Cerebrospinal Fluid Proteins and Their Significance for the Characterization of Cognitive Impairment Status. J Alzheimers Dis. 2024; 97(2):621-633.View Related Profiles. PMID: 38143358
     
  6. Montoliu-Gaya L, Alosco ML, Yhang E, Tripodis Y, Sconzo D, Ally M, Grötschel L, Ashton NJ, Lantero-Rodriguez J, Sauer M, Gomes B, Nilsson J, Brinkmalm G, Sugarman MA, Aparicio HJ, Martin B, Palmisano JN, Steinberg EG, Simkin I, Turk KW, Budson AE, Au R, Farrer L, Jun GR, Kowall NW, Stern RA, Goldstein LE, Qiu WQ, Mez J, Huber BR, Alvarez VE, McKee AC, Zetterberg H, Gobom J, Stein TD, Blennow K. Optimal blood tau species for the detection of Alzheimer's disease neuropathology: an immunoprecipitation mass spectrometry and autopsy study. Acta Neuropathol. 2023 Dec 30; 147(1):5.View Related Profiles. PMID: 38159140; PMCID: PMC10757700; DOI: 10.1007/s00401-023-02660-3;
     
  7. Belloy ME, Andrews SJ, Le Guen Y, Cuccaro M, Farrer LA, Napolioni V, Greicius MD. APOE Genotype and Alzheimer Disease Risk Across Age, Sex, and Population Ancestry. JAMA Neurol. 2023 Dec 01; 80(12):1284-1294. PMID: 37930705; PMCID: PMC10628838; DOI: 10.1001/jamaneurol.2023.3599;
     
  8. Shwani T, Zhang C, Owen LA, Shakoor A, Vitale AT, Lillvis JH, Barr JL, Cromwell P, Finley R, Husami N, Au E, Zavala RA, Graves EC, Zhang SX, Farkas MH, Ammar DA, Allison KM, Tawfik A, Sherva RM, Li M, Stambolian D, Kim IK, Farrer LA, DeAngelis MM. Patterns of Gene Expression, Splicing, and Allele-Specific Expression Vary among Macular Tissues and Clinical Stages of Age-Related Macular Degeneration. Cells. 2023 Nov 21; 12(23).View Related Profiles. PMID: 38067097; PMCID: PMC10705168; DOI: 10.3390/cells12232668;
     
  9. Archer DB, Eissman JM, Mukherjee S, Lee ML, Choi SE, Scollard P, Trittschuh EH, Mez JB, Bush WS, Kunkle BW, Naj AC, Gifford KA, Cuccaro ML, Pericak-Vance MA, Farrer LA, Wang LS, Schellenberg GD, Mayeux RP, Haines JL, Jefferson AL, Kukull WA, Keene CD, Saykin AJ, Thompson PM, Martin ER, Bennett DA, Barnes LL, Schneider JA, Crane PK, Dumitrescu L, Hohman TJ. Longitudinal change in memory performance as a strong endophenotype for Alzheimer's disease. Alzheimers Dement. 2024 Feb; 20(2):1268-1283.View Related Profiles. PMID: 37985223; PMCID: PMC10896586; DOI: 10.1002/alz.13508;
     
  10. Eissman JM, Archer DB, Mukherjee S, Lee ML, Choi SE, Scollard P, Trittschuh EH, Mez JB, Bush WS, Kunkle BW, Naj AC, Gifford KA, Cuccaro ML, Cruchaga C, Pericak-Vance MA, Farrer LA, Wang LS, Schellenberg GD, Mayeux RP, Haines JL, Jefferson AL, Kukull WA, Keene CD, Saykin AJ, Thompson PM, Martin ER, Bennett DA, Barnes LL, Schneider JA, Crane PK, Hohman TJ, Dumitrescu L. Sex-specific genetic architecture of late-life memory performance. Alzheimers Dement. 2024 Feb; 20(2):1250-1267.View Related Profiles. PMID: 37984853; PMCID: PMC10917043; DOI: 10.1002/alz.13507;
     
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