Gyungah Jun, Ph.D.

Associate Professor
Biomedical Genetics Section, Department of Medicine, Boston University School of Medicine
72 East Concord Street E206, Boston, MA 02118
Phone: 617-358-3581
Fax: 617-358-3551
Jun’s Lab website:

Ph.D. Epidemiology and Biostatistics, School of Medicine, Case Western Reserve University, Cleveland, OH.
M.C.I.S. Computer and Information Science, Cleveland State University, Cleveland, OH.
M.S. Microbiology and Immunology, Seoul National University, Seoul, South Korea.
B.A. Agricultural Biology, Korea University, Seoul, South Korea.

Scientific Appointments
Associate Director, Genetic and Molecular Profiling Core at Boston University Alzheimer’s Disease Research Center  (ADRC)
Director, Genome Guided Drug Discovery Core at AI4AD
Chairs of Data Management and Analysis Workgroup, Asian Cohort for Alzheimer’s Disease (ACAD)
Steering Committee Member, Multi-Ethnic Project, Alzheimer’s Disease Genetics Consortium (ADGC)
Other Employment
Analyst Programmer II, Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, OH
Analyst Programmer III, Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, OH
Director and Head, Neurogenetics and Integrated Genomics, Andover Innovative Medicines Institute, Eisai Inc., Andover, MA


Dr. Jun is Associate Professor, Biomedical Genetics Section, Department of Medicine, Boston University School of Medicine. Dr. Jun has been involved in the Alzheimer’s Disease Genetics Consortium and the International Genomics of Alzheimer’s Project to identify AD risk genes within APOE genotype subgroups and across multi-ethnic populations. Dr. Jun previously worked at an industry position as a Director and Head of Neurogenetics and Integrated Genomics for Andover Innovative Medicines (AiM) Institute, Eisai Inc., where she was involved in genome-guided drug discovery projects in AD. After rejoining a full-time faculty position in 2018, she has contributed to establish large collaborated research programs. Dr. Jun is a founding member and one of four PIs for the Asian Cohort for Alzheimer’s Disease (ACAD) Consortium and Chairs in two workgroups, Data Management and Data Analysis. Dr. Jun is a Director at the Genome Guided Drug Discovery (GGDD) Core at the AI4AD consortium, which is a large coordinated national initiative for AD therapeutics will feature transformative Artificial Intelligence (AI) approaches using high throughput human big data. Dr. Jun is also a Steering Committee member at the large Framingham Heart Study Brain Aging Program (FHS-BAP), where she is leading genetic and molecular profiling using genomics and brain omics data in FHS to identify AD signatures from blood and brain. In addition, she has extended her interest in identification of APOE2 protective mechanisms against AD to establish a new cohort for prevention and treatment trials to target APOE for AD therapeutics

Research Interest

  • Genetics and genomics for Alzheimer’s disease
  • Systems biology using multiple omics data
  • Genome guided precision medicine in Alzheimer’s disease
  • Machine learning and network based drug development and repurposing
  • Database and web interface development on Amazon

For complete list of published work in MyBibliography:

Selected publications related to key researches (reverse chronological order; *co-first author):

  1. Friedberg JS, Aytan N, Cherry JD, Xia W, Standring OJ, Alvarez VE, Nicks R, Svirsky S, Meng G, Jun G, Ryu H, Au R, Stein TD. Associations between brain inflammatory profiles and human neuropathology are altered based on apolipoprotein E ɛ4 genotype. Scientific Reports. 2020;10:2924. PMID: 32076055.
  2. Reiman EM, Arboleda-Velasquez JF, Quiroz YT, Huentelman MJ, Beach TG, Caselli RJ, Chen Y, Su Y, Myers AJ, Hardy J, Paul Vonsattel J, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Keene CD, Kamboh MI, Kofler JK, Duque L, Gilbert JR, Gwirtsman HE, Buxbaum JD, Dickson DW, Frosch MP, Ghetti BF, Lunetta KL, Wang LS, Hyman BT, Kukull WA, Foroud T, Haines JL, Mayeux RP, Pericak-Vance MA, Schneider JA, Trojanowski JQ, Farrer LA, Schellenberg GD, Beecham GW, Montine TJ, Jun GR; Alzheimer’s Disease Genetics Consortium. Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study. Nat Commun. 2020 Feb 3;11(1):667. PMID: 32015339.
  3. Arboleda-Velasquez JF, Lopera F, O’Hare M, Delgado-Tirado S, Marino C, Chmielewska N, Saez-Torres KL, Amarnani D, Schultz AP, Sperling RA, Leyton-Cifuentes D, Chen K, Baena A, Aguillon D, Rios-Romenets S, Giraldo M, Guzmán-Vélez E, Norton DJ, Pardilla-Delgado E, Artola A, Sanchez JS, Acosta-Uribe J, Lalli M, Kosik KS, Huentelman MJ, Zetterberg H, Blennow K, Reiman RA, Luo J, Chen Y, Thiyyagura P, Su Y, Jun GR, Naymik M, Gai X, Bootwalla M, Ji J, Shen L, Miller JB, Kim LA, Tariot PN, Johnson KA, Reiman EM, Quiroz YT. Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report. Nat Med. 2019 Nov;25(11):1680-1683. PMID: 31686034.
  4. Choi KY, Lee JJ, Gunasekaran TI, Kang S, Lee W, Jeong J, Lim HJ, Zhang X, Zhu C, Won SY, Choi YY, Seo EH, Lee SC, Gim J, Chung JY, Chong A, Byun MS, Seo S, Ko PW, Han JW, McLean C, Farrell J, Lunetta KL, Miyashita A, Hara N, Won S, Choi SM, Ha JM, Jeong JH, Kuwano R, Song MK, An SSA, Lee YM, Park KW, Lee HW, Choi SH, Rhee S, Song WK, Lee JS, Mayeux R, Haines JL, Pericak-Vance MA, Choo ILH, Nho K, Kim KW, Lee DY, Kim S, Kim BC, Kim H, Jun GR, Schellenberg GD, Ikeuchi T, Farrer LA, Lee KH, Neuroimaging Initative AD. APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer’s Disease Risk in a Multiracial Sample. J Clin Med. 2019 Aug 16;8(8). PMID: 31426376.
  5. Ma Y, Jun GR, et al. CpG-related SNPs in the MS4A Region have a Dose-Dependent Effect on Risk of Late-onset Alzheimer Disease. Aging Cell. 2019 Aug;18(4):e12964. PMID: 31144443.
  6. Ma Y, Jun GR, et al. Novel Alzheimer’s Disease Identified in Subsets of Whole Exome Sequencing Data Stratified by APOE Genotype. JAMA Neurol. 2019 Jun 10. PMID: 31180460.
  7. Chung J, Zhang X, Allen M, Wang X, Ma Y, Beechan G, Montine TJ, Golde TE, Price ND, Ertekin-Taner N, Junetta KL, Mez J, Alzheimer’s Disease Genetics Consortium, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg G, Jun GR, Farrer LA. Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer’s disease. Alzheimers Res Ther. 2018 Feb 20;10(1):22. PMID: 29458411.
  8. Chung J, Jun GR, Dupuis J, Farrer LA. Comparison of methods for multivariate gene-based association tests for complex diseases using common variants. Eur J Hum Genet. 2019 Jan 25. PMID: 30683923.
  9. Chung J, Wang X, Maruyama T, Ma Y, Zhang X, Mez J, Sherva R, Takeyama H, ADNI, Lunetta KL, Farrer LA, Jun GR. Genome-wide association study of Alzheimer’s disease endophenotypes at prediagnosis stages. Alzheimers Dement. 2017 Dec 20. pii: S1552-5260(17)33842-6. doi: 10.1016/j.jalz.2017.11.006. PMID: 29274321.
  10. Jun GR, Chung J, Mez J, Barber R, Beecham GW, Bennett DA, Buxbaum JD, Byrd GS, Carrasquillo MM, Crane PK, Cruchaga C, De Jager P, Ertekin-Taner N, Evans D, Fallin MD, Foroud TM, Friedland RP, Goate AM, Graff-Radford NR, Hendrie H, Hall KS, Hamilton-Nelson KL, Inzelberg R, Kamboh MI, Kauwe JSK, Kukull WA, Kunkle BW, Kuwano R, Larson EB, Logue MW, Manly JJ, Martin ER, Montine TJ, Mukherjee S, Naj A, Reiman EM, Reitz C, Sherva R, St George-Hyslop PH, Thornton T, Younkin SG, Vardarajan BN, Wang LS, Wendlund JR, Winslow AR; Alzheimer’s Disease Genetics Consortium, Haines J, Mayeux R, Pericak-Vance MA, Schellenberg G, Lunetta KL, Farrer LA. Transethnic genome-wide scan identifies novel Alzheimer disease loci. Alzheimers Dement. 2017;13(7):727-738. PMID: 28183528.
  11. Mez J, Chung J, Jun G, et al. Two novel loci, COBL and SLC10A2, for Alzheimer’s disease in African Americans. Alzheimers Dement. 2017;13(2):119-129. PMID: 27770636.
  12. Jun G, et al. A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry. 2016;21:108-17. PMID: 25778476.
  13. Jun G, et al. PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation. Ann Neurol. 2014;76(3):379-92. PMID: 25043464.
  14. Naj AC, Jun G, et al. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. JAMA Neurol. 2014; 71(11):1394-404. PMID: 25199842.
  15. Reitz C, Jun G, et al. Variants in the ATP-binding cassette transporter (ABCA7), Apolipoprotein E e4, and the risk of late-onset Alzheimer’s disease in African Americans. 2013;309(14):1483-92. PMID: 23571587.
  16. Miyashita A*, Koike A*, Jun G*, et al. SORL1 is genetically associated with late-onset Alzheimer’s disease in Japanese, Koreans, and Caucasians. PLoS One. 2013;8(4):e58618. PMID: 23565137.
  17. Jun G, Moncaster JA, Koutras C, Seshadri S, Buros J, McKee AC, Levesque G, Wolf PA, George-Hyslop P, Goldstein LE, Farrer LA. 2012. Delta-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes. PLoS One. 2012;7(9):e43728. PMID: 22984439.
  18. Jun G, Vardarajan BN, Buros J, Yu CE, Hawk MV, Dombroski BA, Crane PK, Larson EB; Alzheimer’s Disease Genetics Consortium, Mayeux R, Haines JL, Lunetta KL, Pericak-Vance MA, Schellenberg GD, Farrer LA. 2012. A comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch Neurol. 2012; 69;1270-1279. PMID: 22869155.
  19. Jun G, Nicolaou M, Morrison MA, Buros J, Morgan DJ, Radeke MJ, Yonekawa Y, Tsironi EE, Kotoula MG, Zacharaki F, Mollema N, Yuan Y, Miller JW, Haider NB, Hageman GS, Kim IK, Schaumberg DA, Farrer LA, DeAngelis MM. Influence of ROBO1 and RORA on Risk of Age-related Macular Degeneration Reveals Genetically Distinct Phenotypes in Disease Pathophysiology. PLoS One. 2011;6(10):e25775. PMID: 21998696.
  20. Naj AC*, Jun G*, et al. Common variants in MS4A4/MS4A6E, CD2AP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease. Nat Genet. 2011;43(5):436-41. PMID: 21460841.
  21. Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P; Alzheimer’s Disease Genetics Consortium, Cantwell LB, Dombroski BA, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Lunetta KL, Martin ER, Montine TJ, Goate AM, Blacker D, Tsuang DW, Beekly D, Cupples LA, Hakonarson H, Kukull W, Foroud TM, Haines J, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD. Meta-analysis confirms CR1, CLU, and PICALM as Alzheimer’s disease risk loci and reveals interactions with APOE genotypes. Arch Neurol. 2010;67(12):1473-84. PMID: 20697030.