Spatial Organisation of the Human Genome Research Theme: Cell and Genome Biology Professor Wendy Bickmore Director: MRC Human Genetics Unit Contact details Email: hgu.director@ed.ac.uk Research in a NutshellDespite its immense length, the linear sequence map of the human genome is an incomplete description of our genetic information. This is because genome function and regulation is also impacted by the way that DNA sequence is folded up with proteins within chromosomes and within the nucleus. Our work tries to understand the three-dimensional folding of the genome, and how this controls how our genome functions in normal development and how this may be perturbed in disease. We take a multidisciplinary approach, using cytological, genetic, genomic and biochemical methods, as well as animal models, to understand genome spatial organisation and how it contributes to gene regulation. A prominent feature of our work is the use of visual assays to investigate how the genome is folded up. We examine the spatial organisation of chromosomes and genes in the nucleus and how this organisation is changed, for example, during development and in certain genetic diseases. We use microscopy to follow the folding path of specific gene loci as they are activated or switched off, and to identify the proteins that bring about this folding. We also use the tools of engineering biology to artificially control the expression or silencing of genes, to test our hypotheses. Research Programme People NameRole Professor Wendy BickmoreGroup LeaderDr Shipra BhatiaInvestigator scientistShelagh BoyleResearch AssistantDr Simon BiddieClinical LecturerDr Elias FrimanResearch FellowDr Anna KoganPostdoctoral scientistDr Iain WilliamsonInvestigator ScientistKarin PurshouseClinical lecturerMaria Dalle VedoveResearch AssistantRiya MadanPhD studentNatalie ChoyPhD studentAlexis IoannouPhD student Key Publications Wendy Bickmore Research Explorer Profile Collaborations Jef Boeke, NYU Langholm health, USAFerenc Mueller, University of BirminghamPatrick Cai, University of ManchesterCees Dekker, TU Delft, The NetherlandsBenjamin Rowland, Netherlands Cancer InstituteLeonid Mirny, MIT/Curie Institute, Paris Partners and Funders MRCBBSRCERC Scientific Themes Chromatin structure, gene regulation, enhancers, epigenetics, nuclear organisation, rare disease Technology Expertise Advanced subcellular imaging, genome and epigenome editing, chromosome conformation capture, chromatin immunoprecipitation, engineering biology This article was published on Monday 23 September 2024