Professor Kim Summers

The Roslin Institute

Research Interests

My interest is in the molecular genetics of disease in humans and animals. I have a particular interest in inherited cardiovascular and ocular disease and have worked on the human conditions Marfan syndrome and long QT syndrome for a number of years. Currently I collaborate with veterinary scientists to study canine genetic diseases, including mitral valve disease in Cavalier King Charles Spaniels, cardiac arrhythmias in Labrador Retrievers and glaucoma in Border Collies. We are applying techniques of human genetics to the understanding of the inheritance of these conditions in dogs, with the aim to use the information gathered from affected dogs to develop an understanding of parallel conditions in humans. As part of this work we are studying the expression of genes which are critical to the development and functioning of the muscles of the heart and arteries, the skin, bones and adipose tissue. These studies will indicate candidate genes which may be responsible for related genetic diseases in humans and animals.

Selected Publications

  • John Baillie, Erik Arner, Carsten Daub, Michiel De Hoon, Masayoshi Itoh, Hideya Kawaji, Timo Lassmann, Piero Carninci, Alistair R.R. Forrest, Yoshihide Hayashizaki, The FANTOM Consortium, Geoff Faulkner, Christine A. Wells, Michael Rehli, Paul Pavli, Kim Summers, David Hume. 2017. Analysis of the human monocyte-derived macrophage transcriptome and response to lipopolysaccharide provides new insights into genetic aetiology of inflammatory bowel disease. PLoS Genetics Vol: 13. More»
  • Sarah M Carpanini, Thomas M Wishart, Thomas H Gillingwater, Jean C Manson, Kim M Summers. 2017. Analysis of gene expression in the nervous system identifies key genes and novel candidates for health and disease. Neurogenetics Vol: 18 Pages: 81-95. More»
  • Margaret R Davis, Erik Arner, Cairnan R E Duffy, Paul De Sousa, Ingrid Dahlman, Peter Arner, Kim Summers. 2016. Expression of FBN1 during adipogenesis: relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions. Molecular Genetics and Metabolism Vol: 119 Pages: 174-185. More»
  • Kathleen Renault, Tom Michoel, Michail Karavolos, Sara Clohisey, John Baillie, Mark Stevens, Thomas Freeman, Kim Summers, Barry McColl. 2016. Microglial brain region−dependent diversity and selective regional sensitivities to aging. Nature Neuroscience Vol: 19 Pages: 504-516. More»
  • Tom C Freeman, Richard Axton, J Kenneth Baillie, Malcolm E Fisher, Lesley Forrester, Thomas Ha, Andru Tomoiu, Kim M Summers, David A Hume and 101 others. 2015. Gene regulation. Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells. Science Vol: 347 Pages: 1010-4. More»
  • Lindsay Farrell, Jeffrey Schoenebeck, Pam Wiener, Dylan Clements, Kim Summers. 2015. The challenges of pedigree dog health: approaches to combating inherited disease. Canine Genetics and Epidemiology Vol: 2. More»
  • J. Kenneth Baillie, Colin A. Semple, Robert S. Young, Malcolm E. Fisher, Thomas J. Ha, Anagha Joshi, Alison Meynert, James G. D. Prendergast, Kim M. Summers, Tom C. Freeman, Martin S. Taylor, David A. Hume and 251 others. 2014. A promoter-level mammalian expression atlas. Nature Vol: 507 Pages: 462-+. More»
  • Kim M Summers, Jennifer A West, Annette Hattam, Denis Stark, James J McGill, Malcolm J West. 2012. Recent developments in the diagnosis of Marfan syndrome and related disorders. The Medical journal of Australia Vol: 197 Pages: 494-7. More»
  • Richard J Mellanby, Rob Ogden, Dylan N Clements, Anne T French, Adam Gow, Roger Powell, Brendan Corcoran, Johan P Schoeman, Kim M Summers. 2013. Population structure and genetic heterogeneity in popular dog breeds in the UK. Veterinary Journal Vol: 196 Pages: 92-97. More»
  • Dylan N. Clements, Ian G. Handel, Erica Rose, Damon Querry, Carys Pugh, William E. R. Ollier, Kenton L. Morgan, Lorna J. Kennedy, Jeffery Sampson, Kim M. Summers, Mark Bronsvoort. 2013. Dogslife: A web-based longitudinal study of Labrador Retriever health in the UK. BMC Veterinary Research Vol: 9 Pages: 1-15. More»
  • Kim M Summers, Nilesh J Bokil, John M Baisden, Malcolm J West, Matthew J Sweet, Liza J Raggatt, David A Hume. 2009. Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. Genomics Vol: 94 Pages: 233-240. More»
  • David A Hume, Kim M Summers, Sobia Raza, Kenneth Baillie, Thomas C Freeman. 2010. Functional clustering and lineage markers: Insights into cellular differentiation and gene function from large-scale microarray studies of purified primary cell populations. Genomics Vol: 95 Pages: 328-338. More»
  • Kim M Summers, Sobia Raza, Erik van Nimwegen, Thomas C Freeman, David A Hume. 2010. Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome. European Journal of Human Genetics Vol: 18 Pages: 1209-1215. More»
  • Nilesh J Bokil, John M Baisden, Dorothy J Radford, Kim M Summers. 2010. Molecular genetics of long QT syndrome. Molecular Genetics and Metabolism Vol: 101 Pages: 1-8. More»
  • N.A. Mabbott, J. Kenneth Baillie, A. Kobayashi, D.S. Donaldson, H. Ohmori, S.O. Yoon, A.S. Freedman, T.C. Freeman, K.M. Summers. 2011. Expression of mesenchyme-specific gene signatures by follicular dendritic cells: insights from the meta-analysis of microarray data from multiple mouse cell populations. Immunology Vol: 133 Pages: 482-498. More»