Heather G. Shilling, PhD
Title:
Manager, Sequencing and Genotyping Core Laboratory
Email Address:
Phone Number:
(206) 341-1946
Background
Dr. Shilling received her bachelor’s degree in Biology from Lawrence University and her PhD in Immunology from the Stanford University School of Medicine. She conducted post-doctoral research at the University of Washington and at the Benaroya Research Institute. Dr. Shilling has led the Sequencing and Genotyping Core Laboratory since November, 2006.
Areas of Research
Type 1 diabetes and other autoimmune diseases arise from the actions and interactions of multiple genetic and environmental factors. While many risk genes for autoimmunity have been found, the HLA genes and PTPN22 for example, it is clear that there are additional susceptibility genes yet to be identified. Furthermore, we do not yet understand the mechanisms by which risk genes contribute to disease development and progression.
The primary function of the Sequencing and Genotyping Core Laboratory is to collaborate with our BRI colleagues in examining the mechanistic link between genetic risk factors and autoimmune diseases like Type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosus, multiple sclerosis, and relapsing polychondritis. We do this through targeted genotyping of known risk genes in well-defined and characterized populations of patients and controls (healthy individuals). Additionally, we test for newly reported susceptibility genes in our patient and control populations to determine whether these suspected risk genes confer disease susceptibility in our patients, or are associated with the disease characteristics (or phenotypes) being studied by BRI researchers. Finally, we screen the DNA sequences of known and suspected risk genes for novel variants that might also confer disease susceptibility. Our goal is to integrate genetic information with immunologic, metabolic, and clinical data to better understand the role of individual susceptibility genes in autoimmune disease pathology.
Selected Publications
Shilling HG, McQueen KL, Cheng NW, Shizuru JA, Negrin RS, Parham P. Reconstitution of NK cell receptor repertoire following HLA-matched hematopoietic cell transplantation. Blood 2003 May 1;101(9):3730-40.
Yawata M, Yawata N, McQueen KL et al. Predominance of group A KIR haplotypes in Japanese associated with diverse NK cell repertoires of KIR expression. Immunogenetics 2002 November;54(8):543-50.
Shilling HG, Young N, Guethlein LA et al. Genetic control of human NK cell repertoire. J Immunol 2002 July 1;169(1):239-47.
Rajalingam R, Krausa P, Shilling HG et al. Distinctive KIR and HLA diversity in a panel of north Indian Hindus. Immunogenetics 2002 March;53(12):1009-19.
Shilling HG, Guethlein LA, Cheng NW et al. Allelic polymorphism synergizes with variable gene content to individualize human KIR genotype. J Immunol 2002 March 1;168(5):2307-15.
Gardiner CM, Guethlein LA, Shilling HG et al. Different NK cell surface phenotypes defined by the DX9 antibody are due to KIR3DL1 gene polymorphism. J Immunol 2001 March 1;166(5):2992-3001.
Shilling HG, Lienert-Weidenbach K, Valiante NM, Uhrberg M, Parham P. Evidence for recombination as a mechanism for KIR diversification. Immunogenetics 1998 November;48(6):413-6.
Uhrberg M, Valiante NM, Shum BP et al. Human diversity in killer cell inhibitory receptor genes. Immunity 1997 December;7(6):753-63.
Valiante NM, Uhrberg M, Shilling HG et al. Functionally and structurally distinct NK cell receptor repertoires in the peripheral blood of two human donors. Immunity 1997 December;7(6):739-51.
Valiante NM, Lienert K, Shilling HG, Smits BJ, Parham P. Killer cell receptors: keeping pace with MHC class I evolution. Immunol Rev 1997 February;155:155-64.