Elizabeth Blue
Associate Professor
Medical Genetics
Assistant Director, Washington State Twin Registry

Faculty Information


Pronouns: She/Her/Hers

Education & Training: 
University of Utah
Salt Lake City, UT
University of Utah
Salt Lake City, UT
Indiana University
Bloomington, IN
Fellow Member of the International Genetic Epidemiology Society
Certificate of Appreciation, International Genetic Epidemiology Society
NIH Pathway to Independence Award
NIH Ruth L. Kirschstein National Research Service Award Institutional Research Training Grant
Indiana University Residential Scholars program
(206) 685-4666
Mailing Address: 

University of Washington

Division of Medical Genetics

1705 NE Pacific St

Box 357720

Seattle, WA 98195-7720


Research & Clinical Interests
Research Interests: 

My lab incorporates tools from population genetics and genetic epidemiology to detect regions of the genome influencing disease. Our long-term research goals are to identify variants influencing disease within and between human populations, as well as to predict and evaluate their functions. We are interested in the biology differentiating the genetic underpinnings of Mendelian disorders (single gene, high penetrance) from complex traits influenced by many genetic and environmental factors (ex., Alzheimer’s disease, cardiovascular disease), and how genetic modifiers fit within that spectrum."


Blue E.E., Thornton T.A., Kooperberg C., Liu S., Wactawski-Wende J., Manson J., Kuller L., Hayden K., Reiner A.P. (in press) Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women. Alzheimer’s & Dementia. PMCID: journal in process. DOI: 10.1002/alz.12181.

Blue E.E., Horimoto A.R.V.R., Mukherjee S., Wijsman E.M., Thornton T.A. (2019) Local ancestry at APOE modifies Alzheimer’s disease risk in Caribbean Hispanics. Alzheimer’s & Dementia 15(12): 1524-1532. PMCID: PMC6925639.

Blue E.E., Louie T.L., Chong J.X., Hebbring S.J., Barnes K.C., Rafaels N.M., Knowles M.R., NHLBI GO Exome Sequencing Project, LungGO, Gibson R.L., Bamshad M.J., Emond M.J. (2018) Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. Annals of the American Thoracic Society 15(4):440-448. PMCID: PMC5879139.

Chong J.X., Buckingham K.J., Jhangiani S.N., Boehm C., Sobreira N., Smith J.D., Harrell T.M., McMillin M.J., Wiszniewski W., Gambin T., Coban Akdemir Z.H., Doheny K., Scott A.F., Avramopoulos D., Chakravarti A., Hoover-Fong J., Mathews D., Witmer P.D., Ling H., Ketrick K., Watkins L., Patterson K.E., Reinier F., Blue E., Muzny D., Kircher M., Bilguavar K., Lopez-Giraldez F., Sutton V.R., Tabor H.K., Leal S.M., Gunel M., Mane S., Gibbs R.A., Boerwinkle E., Hamosh A., Shendure J., Lupski J.R., Lifton R.P., Valle D., Nickerson D.A., Centers for Mendelian Genomics, Bamshad M. (2015) The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics 97(2): 199-215. PMCID: PMC4573249.

Marchani E.E., Bird T.D., Steinbart E.J., Rosenthal E., Yu C.E., Schellenberg G.D., Wijsman E.M. (2010) Evidence for three loci modifying age-at-onset of Alzheimer's Disease in early-onset PSEN2 families. American Journal of Medical Genetics Part B 153B(5): 1031-1041. PMCID: PMC3022037.

Marchani E.E., Xing J., Witherspoon D.J., Jorde L.B., Rogers A.R. (2009) Estimating the age of retrotransposon subfamilies using maximum likelihood. Genomics 94(1): 78-82. PMCID: PMC2703446.

Witherspoon D.J., Wooding S., Rogers A.R., Marchani E.E., Watkins W.S., Batzer M.A., Jorde L.B. (2007) Genetic Similarities Within and Between Human Populations. Genetics 176(1): 351-359. PMCID: PMC1893020."