Stephanie Hesselson
Research Officer
Beta Cell Regeneration
Garvan Institute of Medical Research
Australia
Biography
I received my education from the University of Wisconsin - Madison where I searched for human genes that increase a women’s risk of developing breast cancer. We used loci that increased mammary tumour number in rats as a guide to look for human risk alleles and found two human alleles in the region of the genome homologous to our rat QTL that were associated with breast cancer risk. My postdoctoral research was conducted at UCSF. I was involved in many different projects studying the role of genes in human complex diseases. Most notably we observed an association between polymorphisms in TRA@ and Narcolepsy in a GWAS suggesting a role of the immune system in narcolepsy. In addition I was involved in the ethnic specific design of 4 Affimetrix SNP arrays and oversaw the genotyping of over 100,000 individuals from the Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH) on these ancestry specific arrays.
Research Interest
Human Genetics; Genetic Basis of Complex Diseases
Publications
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Hesselson SE, Matsson P, Shima JE, Fukushima H, Yee SW, Kobayashi Y, Gow JM, Ha C, Ma B, Poon A, Johns SJ, Stryke D, Castro RA, Tahara H, Choi JH, Chen L, Picard N, Sjödin E, Roelofs MJ, Ferrin TE, Myers R, Kroetz DL, Kwok PY, Giacomini KM. Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation. (2009) PLoS One. 4(9):e6942.
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Kim MJ, Skewes-Cox P, Fukushima H, Hesselson S, Yee SW, Ramsey LB, Nguyen L, Eshragh JL, Castro RA, Wen CC, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Relling MV, Giacomini KM, Kroetz DL, Ahituv N. Functional characterization of liver enhancers that regulate drug-associated transporters. (2011) Clinical Pharmacolology and Therapeutics. 89(4):571-8.
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Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC, Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X, Winkelmann J, Plazzi G, et al Common variants in P2RY11 are associated with narcolepsy. (2011) Nature Genetics. 43:66-71.
