Faculty : Karen Nuytemans, Ph.D.

Karen Nuytemans, Ph.D.

Research Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Research Assistant Professor, John P. Hussman Institute for Human Genomics

Dr. Karen Nuytemans is a Research Assistant Professor at the John P. Hussman Institute of Human Genomics and Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami Miller School of Medicine. She started her work on the genetics of complex Neurodegenerative Brain Disorders, including Parkinson Disease (PD), Frontotemporal Dementia (FTD) and Alzheimer Disease (AD), at the University of Antwerp, Belgium with renowned dementia researcher, Dr. Christine van Broeckhoven. There she established the PDmutDB, a database of all variants identified in 5 major PD genes, and was involved in the identification of the PGRN gene in FTD and the first family analysis in Dementia with Lewy Bodies (DLB). By moving to the University of Miami, Dr. Nuytemans extended her knowledge on basic molecular techniques to include analyses of big data datasets, from genome-wide genotyping to massive parallel sequencing of the exome or genome as well as novel functional characterization of candidate variants. Having firsthand experience with variability in genetic contribution to disease in different population groups, she has committed to increasing representation of all race/ethnicities in genetic research and thus reducing health disparities, especially for PD and the AD related dementias, FTD and DLB. As such, Dr. Nuytemans directs several genomic projects on PD in Hispanic populations and FTD across race/ethnicity, and has published the first report on PD variants in Caribbean Hispanics. Additionally, Dr. Nuytemans drives the genomic analyses in the Thrombotic Storm project, aiming to better understand genomic susceptibility to this rare thrombotic disorder originally described by Drs. Vance, Pericak-Vance (HIHG) and Ortel (Duke).

MyNCBI Link:


Top Publications:

  • Nuytemans K, Rajabli F, Bussies PL, Celis K, Scott WK, Singer C, Luca CC, Vinuela A, Pericak-Vance MA, Vance JM. Novel variants in LRRK2 and GBA identified in Latino Parkinson Disease cohort enriched for Caribbean origin. Front Neurol. 2020 Nov 12;11:573733.
  • Nuytemans K, Manrique CP, Uhlenberg A, Scott WK, Cuccaro ML, Luca CC, Singer S, Vance JM. Motivations for participation in Parkinson disease genetic research among Hispanics versus non-Hispanics. Front Genet 2019 Jul:10:658.
  • Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7 and LRRK2 genes: a mutation update. Hum Mutat. 2010 Jul:31(7):763-80.
  • Nuytemans K, Ortel TL, Gomez L, Hofmann N, Alves N, Dueker N, Beecham A, Whitehead P, Hahn Estabrooks S, Kitchens CS, Erkan D, Brandão LR, Kulkarni R, Manco-Johnson MJ, Pericak-Vance MA, Vance JM. Variants in chondroitin sulfate metabolism genes in thrombotic storm. Thromb Res. 2018 Jan;161:43-51.
  • Griswold AJ, Perez J, Nuytemans K, Strong TA, Wang L, Vance DD, Ennis H, Smith MK, Best TM, Vance JM, Pericak-Vance MA, Kaplan LD. Transcriptomic analysis of synovial extracellular RNA following knee trauma; a pilot study. J Orthop Res. 2018 Jun; 36(6):1659-1665.