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Job Description and Person Specificationselection Criteria Job Description NUFFIELD DIVISION OF CLINICAL LABORATORY SCIENCES Job title Postdoctoral Researcher in Functional Genomics Division Medical Sciences Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department Department of Medicine Location John Radcliffe Hospital, Headington, Oxford, OX3 9DU Grade and salary Grade 7: £30,738 - £37,768 per annum Hours Full-time 37.5 hours per week Contract type 36-month fixed-term post Professor David Roberts (Oxford) Reporting to Professor Nicole Soranzo (Wellcome Trust Sanger Institute) Vacancy reference 123679 Funding provided by a the National Institute for Health Research Blood and Transplant Additional information Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge by way of a collaboration between the Universities of Cambridge and Oxford. Elucidating the role of individual genetic variation in determining blood cell traits and iron Research topic metabolism Principal Investigator / Professor David Roberts (NHSBT Oxford) supervisor Professor Nicole Soranzo (Wellcome Trust Sanger Institute – Cambridge University) Professor David Roberts (NHSBT Oxford) Professor Nicole Soranzo (Wellcome Trust Sanger Institute – Cambridge University Project team Dr Dirk Paul (Dept of Public Health and Primary Health, University of Cambridge) Profs Doug Higgs and Jim Hughes (Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford). http://www.ndcls.ox.ac.uk/researchers/researcher/david-roberts http://www.intervalstudy.org.uk/ http://donorhealth-btru.nihr.ac.uk Project web site http://www.phpc.cam.ac.uk/ http://www.nhsbt.nhs.uk/download/strategic_plan_2015_20.pdf https://www.sanger.ac.uk/research/projects/quantitativetraits/ Funding provided by the National Institute for Health Research Blood and Transplant Unit Funding partner (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge by way of a collaboration between the Universities of Cambridge and Oxford. Astle et al, A high resolution genetic atlas of blood cell variation and function in humans, Recent publications Cell, submitted Technical skills Advanced molecular biology and functional genomics techniques The role Our major interest is the role of genetic traits that determine resilience or susceptibility to the sequelae of blood donation. We are therefore particularly interested in traits that maintain iron homeostasis and also the biology of side effects that follow iron deficiency including neurocognitive syndromes. The aim of this post is to contribute to the development of a programme of work to understand the role of individual genetic variation in determining blood cell traits and iron metabolism, and more specifically, how these traits and mechanisms define the ability to donate, and the quality of red cells and other haematopoietic cells. We aim to provide results that can be translated into diagnostics, treatments or therapies relevant to NHS Blood and Transplant. As a starting point, we will leverage the genetic association data from a recent genome-wide association study (GWAS) of 30 different red blood cell, platelet and leukocyte indices in nearly 200,000 participants from the UK Biobank and INTERVAL cohorts. Our comprehensive analysis is expected to identify hundreds of genetic loci robustly associated with one or more major blood cell phenotype(s). The challenge ahead is to define the causal variants and the functional impact of these novel loci, as well as to pinpoint the relevant genes and regulatory networks. However, despite the acquisition of large amounts of relevant data, our understanding of the specific mechanisms by which these sequence changes lead to their associated diseases remain poor, and well-defined mechanisms exist for only a small minority of putative associations. Recent work indicates that most associated variants lie in non-coding sequence, suggesting that some of the causal variants must alter how genes are switched on and off. In order to interpret the functional mechanisms driving the observed non-coding genetic associations, we will integrate cell type-specific epigenome and gene expression data generated by the BLUEPRINT project and results from chromatin conformation capture in major myeloid and lymphoid blood cell types. This will allow us to identify the likely causal variants and their functional impact at a large number of the novel loci, as well as to pinpoint the relevant genes and regulatory networks, with unprecedented resolution and power. We will use a wide variety of functional assays in primary cells using the recall-by-genotype capabilities of the INTERVAL bio-resource. The advertised position is funded by NIHR Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, will be located within the Blood Research Lab at Oxford (Prof David Roberts, National Health Service Blood and Transplant, John Radcliffe Hospital, Oxford). Please note that this post is available to provide specialist expertise or experience which is required for a defined set of work and period of time. It is anticipated that this work will take three years to complete and therefore the post has been made available for 36 months fixed-term on that basis. Moreover, please note that there is currently no expectation that further work will be required or available following the conclusion of this 36 month contract. The work will be in close collaboration Prof Nicole Soranzo (Sanger Institute, Cambridge), Prof John Danesh and Drs Adam Butterworth and Dirk Paul (Dept of Public Health and Primary Health, University of Cambridge) and in Oxford with Profs Doug Higgs and Jim Hughes (Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford). The post will also link with the new strategic collaboration between the Wellcome Trust Centre for Human Genetic (WTCHG) and the Weatherall Institute of Molecular Medicine (WIMM), funded by a Wellcome Trust Strategic Award (Profs Doug Higgs, Peter Donnelly, Mark McCarthy, Dominic Kwiatowski, Gil McVean, Lars Fugger, Jim Hughes, David Roberts and Anna Gloyn) to develop and implement a systematic approach that will link these disease- associated differences in DNA sequence to the genes they control. Strategic initiative in genomics, healthcare, and population science The Department of Public Health and Primary Care at the University of Cambridge has been awarded a £4 million grant to set up the National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics (Director: Professor John Danesh FMedSci). The goals of this new Unit are to combine cutting-edge tools from genomics, biology, and population health science to address key questions about the aetiology of important disorders (such as the health consequences of iron deficiency), to improve the safety and precision of blood donation, and to build and use major genomic resources that enable study important chronic diseases of wider relevance. The Unit is a strategic collaboration led by the University of Cambridge in partnership with the Wellcome Trust Sanger Institute, NHS Blood and Transplant, and the University of Oxford. The new Unit is building and exploiting exceptionally large and detailed “living laboratories” of healthy participants who consent to frequent and active engagement in research studies (eg, recall-by-genotype, periodic re-attendance, wearing of devices, linkage with e-health records). For example, leveraging our strategic relationship with NHS Blood and Transplant, we have commenced linkage of >1M blood donors to e-health records. As a proof-of-concept study, we have already enrolled 50,000 donors into the INTERVAL study (http://www.intervalstudy.org.uk/) in which we have commenced cohort-wide 15X whole genome sequencing, measured >5000 molecular phenotypes (eg, lipids, 123679_JD_Postdoc_researcher.doc 2 metabolites, proteins), conducted an advanced analysis of the cellular composition of the blood, employed accelerometry devices at scale, and measured genome-wide genotypes. Later in 2015, we will commence recruitment of a further 30,000 blood donors into the COMPARE study of haemoglobin testing methods. We are recruiting a range of talented scientists to the new Unit who have skills in quantitative, genomic, and/or biological sciences. Post-holders will be encouraged to take on leadership roles in key projects and manuscripts. Post- holders will have access to world-leading data and sample resources, and will be provided mentorship by an interdisciplinary team of internationally-recognised senior scientists. This post will be based at University of Oxford but work very closely with the Cardiovascular Epidemiology Unit in the Department of Public Health and Primary Care at the University of Cambridge, and the department of Human Genetics at the Wellcome Trust Sanger Institute. National Health Service Blood and Transplant – Oxford The NHS Blood and Transplant (NHSBT) is a Special Health Authority and is responsible for encouraging people to donate organs, blood, stem cells and tissues, optimising the safety and supply of blood, organs, stem cells and tissues and matching them to patients and helping to raise the quality, effectiveness and clinical outcomes of blood and transplant services. Prof David Roberts (Blood Research Laboratory) has led the NIHR Programme in ‘Erythropoiesis in Health and Disease’ and is co-chief PI of the major INTERVAL RCT of the benefits and potential effects of different donation intervals in UK
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