Dr. Murray H. Brilliant

2023- present Professor of Ophthalmology (Research Scholar Track) at the University of Arizona
2020- present Senior Research Scientist, Waisman Center, University of Wisconsin- Madison
2016-present Adjunct Faculty, Ophthalmology, Medical College of Wisconsin
2015 to 2018 Associate Executive Director-UW ICTR (CTSA)
2015 to 2016 Director of Research, Marshfield Clinic Research Foundation
2014-present Member McPherson Eye Research Institute, UW Madison
2014 to present Waisman Center Investigator, UW-Madison
2014 to present Adjunct Faculty, Genetics Laboratory, UW-Madison
2012 to 2019 Executive Director, Wisconsin Genome Initiative
2011 to present Member, Global Research Advisory Board, HHT Foundation International
2011 to 2018 Director, Personalized Medicine Research Project, Marshfield Clinic
2009 to 2019 Lead Genetic Scientist, Wisconsin Genome Initiative
2009 to 2015 Assistant Director, ICTR Translational Technologies and Research Core
2009 to 2019 Member Institute for Clinical and Translational Research (ICTR)
2009 to 2019 Director, Center for Precision Medicine Research/Center for Human Genetics, Marshfield Clinic, Marshfield, Wisconsin
2009 to 2019 Senior Research Scientist, James Weber Chair, Marshfield Clinic, Marshfield, Wisconsin
2003 to 2009 Chair of the Graduate Interdisciplinary Program in Genetics, University of Arizona, Tucson.
1997 to 2009 Lindholm Prof.of Mammalian Genetics, Univ. of Arizona School of Medicine, Tucson
1993 to 1997 Adj. Asst. Prof. of Human Genetics, Assoc. Faculty of Medicine, University of Penn
1993 to 1997 Member, Fox Chase Cancer Center, Philadelphia
1989 to 1993 Associate Member, Fox Chase Cancer Center, Philadelphia
1987 to 1989 Faculty in Medical and Experimental Mammalian Genetics, Jackson Laboratory
1986 to 1989 Associate Staff Scientist, The Jackson Laboratory, Bar Harbor, Maine
1984 to 1986 Postdoctoral Research Associate in Neuroscience, Tufts University, Boston

1. My basic science work has linked the biology of ocular phenotypes of albinism and age-related macular degeneration, resulting in two significant publications: the largest (international collaborative) study on the genetics of age-related macular degeneration in Nature Genetics and the second in the American Journal of Medicine that demonstrates that L-DOPA prevents or significantly delays age-related macular degeneration, the leading cause of blindness in the developed world. I have also contributed to important basic research into glaucoma.

Fritsche LG, Igl W, Cooke Bailey JN, Grassman F, Sengupta S et al. Insights into Rare Genetic Variation From a Large Study of Age-Related Macular Degeneration. Nat Genet. 2016 Feb;48(2):134-43. Epub 2015 Dec 21. PMID: 26691988

Brilliant MH, Vaziri K, Connor TB Jr, Schwartz SG, Carroll JJ, McCarty CA, Schrodi SJ, Hebbring SJ, Kishor KS, Flynn HW Jr, Moshfeghi AA, Moshfeghi DM, Fini ME, McKay BS. Mining Retrospective Data for Virtual Prospective Drug Repurposing: L-DOPA and Age-related Macular Degeneration. Am J Med. 2016 Mar;129(3):292-8. Epub 2015 Oct 30. PMID: 26524704

Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, et al. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nat Commun. 2021 Feb 24;12(1):1258. PMID: 33627673; PMCID: PMC7904932.

Fan BJ, Bailey JC, Igo RP Jr, Kang JH, Boumenna T, Brilliant MH, Budenz DL, Fingert JH, Gaasterland T, Gaasterland D, Hauser MA, Kraft P, Lee RK, Lichter PR, Liu Y, Moroi SE, Myers JS, Pericak-Vance MA, Realini A, Rhee DJ, Richards JE, Ritch R, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Weinreb RN, Wollstein G, Zack DJ, Haines JL, Pasquale LR, Wiggs JL. Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis. JAMA Ophthalmol. 2019 Oct 1;137(10):1190-1194PMID: 31436842; PMCID: PMC6707005.

2. Current research on understanding how FMR1 variants correlate with health outcomes, how to use electronic health records to diagnose Fragile X syndrome earlier and how these outcomes and diagnostic tools can be utilized to reduce health disparities.

DaWalt, L., Taylor, J.L., Movaghar, A., Hong, J., Kim, B., Brilliant, M. & Mailick, M.R. (2021). Health profiles of adults with ASD: Differences between women and men. Autism Res. 2021 Sep;14(9):1896-1904. Epub 2021 Jul 2. PMID: 34213066

Movaghar, A., Page, D., Brilliant, M.H., & Mailick, M.R. (2021). Prevalence of underdiagnosed fragile X syndrome in two health systems. JAMA Netw Open. 2021 Dec 1;4(12):e2141516. PMID: 34967885

Mailick, M.R., Hong, J., Movaghar, A., DaWalt, L., Berry-Kravis, E.M., Brilliant, M.H., Boero, J., Todd, P.K., & Hall, D. (2021). Mild neurological signs in FMR1 premutation women in an unselected community-based cohort. Movement Disorders, 36, 10, 2378-2386. Epub 2021 Jun 12. PMID: 34117786

Movaghar, A., Page, D., Scholze, D., Hong, J., DaWalt, L.S., Kuusito, F., Stewart, R., Brilliant, M.H., Mailick, M.R. (2021). Artificial intelligence-assisted phenotype discovery of fragile x syndrome in a population-based sample. Genet Med. 2021 Jul;23(7):1273-1280. Epub 2021 Mar 26. PMID: 33772223

3. Early in my career, I developed a then-novel technique to identify and clone specific genes. This led to the discovery of the OCA2 gene responsible for the most common form of albinism in Africa. My research group also identified the genes for OCA4 and HPS-1.

Brilliant MH, Gondo Y, Eicher EM. Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. Science 252: 566-569, 1991. PMID: 1673574

Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism (OCA2). Nature Genetics 7:176-179, 1994. PMID: 7920637

Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am. J. Hum. Genet. 69:981-988, 2001. PMID: 11574907

Wildenberg SC, Fryer JP, Gardner JM, Oetting WS, Brilliant MH, King RA. Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. J. Invest. Dermatol. 110:777-78, 1998. PMID: 9579545

4. My group was one of the first to develop predictive algorithms for complex traits (skin, hair and eye color) based on SNPs and still used in forensic studies today. With that accomplishment, my research began to focus on traits of medical significance, especially eye disorders such as Age-related Macular Degeneration and Glaucoma. At Marshfield Clinic, I have instituted one of the first clinical-translational personalized medicine programs to: A) identify patients at risk for being prescribed specific drugs (simvastatin, clopidogrel and Warfarin), B) test those patients for common variants BEFORE they are prescribed these drugs, and C) implement clinical decision support tools that alert our physicians when the prescription is ordered. The data set of the 84 very important pharmacogenes sequenced in this study is available for the proposed research. In light of my expertise, I have been an invited participant in NHGRI’s Genomic Medicine planning meetings and in the development and implementation of the All of Us Research Program.

Valenzuela R, Henderson MS, Kim MH, Garrison NA, Kelch JT, Cohen-Barak O, Erickson DT, Meaney FJ, Walsh JB, Cheng KC, Ito S, Wakamatsu K, Frudakis T, Thomas M, Brilliant MH. Predicting Phenotype from Genotype: Normal Pigmentation. J Forensic Sci. 55:315-322, 2010. PMCID: PMC3626268

Land ME, Cooper, RF, Young J, Berg E, Kitchner, T, Xiang Q, Szabo A, Ivacic LC, Stepien KE, Page CD, Connor T, Brilliant M. Cone Structure in Subjects with Known Genetic Risk for AMD. Optom Vis Sci. 91:939-49, 2014. PMCID: PMC4111779

Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, Brautbar A, Brilliant M, Carrell DS, Connolly J, Crosslin DR, Doheny KF, Gallego CJ, Gottesman O, Kim DS, Leppig KA, Li R, Lin S, Manzi S, Mejia AR, Pacheco JA, Pan V, Pathak J, Perry CL, Peterson JF, Prows CA, Ralston J, Rasmussen LV, Ritchie MD, Sadhasivam S, Scott SA, Smith M, Vega A, Vinks AA, Volpi S, Wolf WA, Bottinger E, Chisholm RL, Chute CG, Haines JL, Harley JB, Keating B, Holm IA, Kullo IJ, Jarvik GP, Larson EB, Manolio T, McCarty CA, Nickerson DA, Scherer SE, Williams MS, Roden DM, Denny JC. Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems. Clin Pharmacol Ther. 96:482-9, 2014 PMCID:PMC4169732

All of Us Research Program Investigators, Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW, Jenkins G, Dishman E. The "All of Us" Research Program. N Engl J Med. 2019 Aug 15;381(7):668-676. PMID: 31412182; PMCID: PMC8291101.

5. I have also been an active researcher on Big Data sets and pharmacogenomics, contributing to the development of approaches that strategically and accurately identify relevant genetic elements contributing to drug response:

Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, Field JR, Pulley JM, Ramirez AH, Bowton E, Basford MA, Carrell DS, Peissig PL, Kho AN, Pacheco JA, Rasmussen LV, Crosslin DR, Crane PK, Pathak J, Bielinski SJ, Pendergrass SA, Xu H, Hindorff LA, Li R, Manolio TA, Chute CG, Chisholm RL, Larson EB, Jarvik GP, Brilliant MH, McCarty CA, Kullo IJ, Haines JL, Crawford DC, Masys DR, Roden DM. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol. 31:1102-10, 2013. PMCID: PMC3969265

Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, Frazer KA, Korf B, Ledbetter DH, Lupski JR, Marsh C, Mrazek D, Murray MF, O’Donnell PH, Rader D, Relling MV, Shuldiner AR, Valle D, Weinshilboum R, Green ED, Ginsburg GS. Implementing Genomic Medicine in the Clinic: The Future is Here. Genetics in Medicine, 15:258-67, 2013. PMCID: PMC3835144

Ye Z, Mayer J, Ivacic L, Zhou Z, He M, Schrodi SJ, Page D, Brilliant MH, Hebbring SJ. Phenome-wide association studies (PheWASs) for functional variants. Eur J Hum Genet. 23:523-9, 2015 PMID: 25074467

He M, Person TN, Hebbring SJ, Heinzen E, Ye Z, Schrodi SJ, McPherson EW, Lin SM, Peissig PL, Brilliant MH, O'Rawe J, Robison RJ, Lyon GJ, Wang K. SeqHBase: a big data toolset for family based sequencing data analysis. J Med Genet. 2015 Apr;52(4):282-8. Epub 2015 Jan 13.PMID: 25587064

*Publications that do not have a PMCID are available free.

The URL link to my publications is:
http://www.ncbi.nlm.nih.gov/sites/myncbi/murray.brilliant.1/bibliography/47427926/public/?sort=date&direction=ascending