Director, Center for Human Genetics
Research Scientist (Tenured)

Department of Medical Genetics, MLR
Marshfield Clinic
1000 North Oak Avenue
Marshfield, WI 54449




Dr. Murray Brilliant is well-known for his research on the genetics of human albinism. He received his Bachelor’s degree (Magna Cum Laude) from Syracuse University and completed his doctoral work in molecular, cellular, and developmental biology at the University of Colorado. He held the post of Lindholm Professor of Mammalian Genetics in the Departments of Pediatrics and Molecular and Cellular Biology at the University of Arizona before joining the MCRF as the Director of the Center for Human Genetics. In addition to his work on albinism, he also conducts research on the role of rare and common genetic variation in complex diseases and drug reactions.



  • My laboratory has extensively studied the genetics of normal and abnormal human pigmentation. We have identified
    two genes associated with oculocutaneous albinism. These are the P gene that underlies oculocutaneous albinism type 2, the most common form of albinism worldwide and the SLC45A2 gene that underlies oculocutaneous albinism type 4, the most common form of albinism in Japan. We also identified the gene associated with Hermansky-Pudlak syndrome type I, a disorder that is associated with oculocutaneous albinism and platelets that lack dense bodies. My studies of albinism have included populations all around the world. Other studies in progress aim to understand the genetic basis of normal pigment variation in humans.Brilliant_Tanzania
  • We are interested in the mechanisms that underlie the associations between periodontal disease and systemic disease (e.g. type 2 diabetes). Our project will explore the feasibility of establishing a biobank of oral microbiome samples, identify microorganisms present at sites of periodontitis, examine genetic and environmental factors contributing to both periodontitis and systemic disease, and develop tools to support cross-disciplinary clinical management of periodontal and systemic disease.
  • We are developing a predictive algorithm for age-related macular degeneration. We are using data from association studies that compare the genetic variation and other variables (age, sex, diet, environmental exposures) between those with and without the disorder to identify risk factors for inclusion in the algorithm.
  • The Center for Human Genetics is part of a network of research centers investigating how individual genomic data can be combined with electronic health records to improve delivery of patient care. As part of this effort, we plan to study how physicians use genomic data to make decisions about the type of medication prescribed and to search for new genetic variants that might lead to adverse drug reactions.


Marsha Mailick, Ph.D. – Waisman Center, University of Wisconsin – Madison
Dan Roden, M.D. – Vanderbilt University Medical Center, Nashville, Tennessee
Catherine McCarty, Ph.D. – Essentia Institute of Rural Health, Duluth, Minnesota
Joseph Carroll, Ph.D. - Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin
Thomas Connor, M.D. – Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin
Ulrich Broeckel, M.D. – Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin


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 DJ, Relling MV, Shuldiner AR, Valle D, Weinshilboum R, Green ED, Ginsburg GS. Implementing genomic medicine in the clinic: the future is here. GENET MED 2013;15:258-67.
PMID: 23306799

Hebbring SJ, Slager SL, Epperla N, Mazza JJ, Ye Z, Zhou Z, Achenbach SJ, Vasco DA, Call TG, Rabe KG, Kay NE, Caporaso NE, Lanasa MC, Camp NJ, Strom SS, Goldin LR, Cerhan JR, Brilliant MH, Schrodi SJ. Genetic evidence of PTPN22 effects on chronic lymphocytic leukemia. BLOOD 2013;121:237-8.
PubMed ID: 3287625

Glurich I, Acharya A, Shukla SK, Nycz GR, Brilliant MH. The oral-systemic personalized medicine model at Marshfield Clinic. ORAL DIS 2013;19:1-17.
PubMed ID: 22458294

Tuli AM, Valenzuela RK, Kamugisha E, Brilliant MH. Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? MED HYPOTHESES 2012;79:875-8.
PubMed ID: 23063908

Foth W, Waudby C, Brilliant MH. Certificates of confidentiality and the Marshfield Clinic’s Personalized Medicine Research Project. VIRTUAL MENTOR 2012;14:653-6.
PubMed ID: 23351322

Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan CC, Bernardini IM, Sergeev YV, Dolinska MB, Alur RP, Brilliant MH, Gahl WA, Brooks BP. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. J CLIN INVEST 2011;121:3914-23.
PMID: 21968110