Life Sciences Conference 2014: Population Health in a Post--Genomic Era 15 - 16 December 2014 Life Sciences Conference 2014 Population health in a Post-Genomic Era Abstracts 1 Life Sciences Conference 2014: Population Health in a Post--Genomic Era 15 - 16 December 2014 Oral presentations Monday 15 December Title: Health marketing communications: An integrated conceptual framework of key determinants of health behaviour across the stages of change Author(s): Danae Manika and Diana Gregory Smith Summary Despite the development of many health behaviour theories across various topics, the inconsistency in empirical support for their propositions and the ongoing criticism about their limitations highlight the need for an adjusted and integrated approach. These theories have never been ‘abandoned’ or altered significantly to address their limitations, since their conceptualisations. The aim of this paper is to make a conceptual contribution by integrating distinct health behaviour theories (i.e. Health Belief Model, Extended Parallel Process Model, Transtheoretical Model), with a popular information-processing and attitude change theory from the marketing communications arena (namely, the Elaboration Likelihood Model). Title: Prenatal nutrition and childhood respiratory and atopic outcomes: using genetic epidemiology to strengthen causal inference Author(s): Prof Seif Shaheen Summary Evidence from birth cohort studies has implicated prenatal nutrition in the aetiology of childhood respiratory and atopic outcomes. The problem with observational studies, and a particular issue in nutritional epidemiology, is that it is difficult to exclude confounding of key findings (given the strong social patterning of diet and correlations between nutrients) using conventional methods of statistical analysis. Before embarking on expensive nutritional intervention studies in pregnancy which may fail because they are based on confounded epidemiological data, what more could be done to obtain more robust findings in observational studies? This talk will illustrate the potential value of exploring gene-nutrient interactions and using a Mendelian randomisation approach to strengthen causal inference, in order to inform the design of trials which will have a greater chance of success. 2 Life Sciences Conference 2014: Population Health in a Post--Genomic Era 15 - 16 December 2014 Title: Using zebrafish models for development of personalised therapies- a proof of principle study using smoking as an example Author(s): Alistair J.Brock, Matthew.O.Parker, David Joliffe, Valerie Kuan, Teck. M. The, Adrian Martineau, Robert Walton, Caroline H. Brennan Summary Smoking is one of the leading preventable causes of adult mortality today and places a huge social and financial burden on society. One step toward the effective prevention and treatment for nicotine addiction would be to delineate genetic variants that mediate individual differences in sensitivity to the drug and responses to treatment. Although animal models cannot replicate all the complexities of human smoking, they can help with the identification of genetic factors influencing component behaviours such as reward sensitivity, amount smoked, persistent drug taking, and relapse. Recently we, and others, have established behavioural assays of drug seeking and impulse control in adult zebrafish and used these to demonstrate conservation of reward pathways including responses to nicotine in fish as in mammals. These studies raise the possibility of using mutagenesis screens in fish to identify genes affecting complex behaviours such as nicotine preference, which is one aspect of smoking, in humans. Title: Predicting outcomes from language in mental health therapy Author(s): Matthew Purver, Rose McCabe, Christine Howes Summary Aspects of doctor-patient communication in therapy can predict patient symptoms, satisfaction and future adherence to treatment. Computational natural language processing provides methods to automatically derive linguistic features; we examine their application to predicting therapy outcomes. Title: Temporal genomic profiling reveals diverse patterns of clonal evolution in haematological malignancy Author(s): Jun Wang, Jessica Okosun, Kiran Tawana, Shamzah Araf, Claude Chelala and Jude Fitzgibbon Summary Cancer initiation and progression can be seen as an evolutionary process influenced by a myriad of intrinsic and extrinsic factors. An understanding of the dynamics of tumour clonal evolution may provide insight into effective ways to stratify or personalise therapies. 3 Life Sciences Conference 2014: Population Health in a Post--Genomic Era 15 - 16 December 2014 Title: Congenital cavernous malformation: A family business Author(s): Dr Maerouf Malik, Dr Venkat Karrupswamy and Dr Sajeev Job Summary A five year old girl presented with recurrent falls for six weeks. This was followed by a sudden onset of weakness of the left side with shooting pain lasting 1-4 minutes. She showed an asymmetrical gait with increased tone and hyper-reflexia on the left side of the body. She also showed a minor vascular marking at the back of her neck. On examination we found same lesions in a sibling and the mother. The objective is to find the genetic cause of this condition in the family, to examine other siblings and the parents for the same clinical condition and prevent morbidity and mortality. 4 Life Sciences Conference 2014: Population Health in a Post--Genomic Era 15 - 16 December 2014 Tuesday 16 December 2014 Title: The emotional side of autoimmune disease: a new venue for treatment? Author(s): Prof F. D’Acquisto Title: Human neutrophil microvesicles modulate macrophage phenotype: innovative approaches to immunotherapy Author(s): Hefin Jones, Sarah Headland, Lucy Norling, Mauro Perretti Summary Extracellular vesicles (including microparticles [0.1-1 μm diameter]) are emerging as a novel mode of intercellular communication endowed with great therapeutic potential for nanomedicine. Released in response to cellular activation, microparticles are a major vector mechanism for the delivery of protein, nucleic acid and bioactive lipid payloads in local tissues and plasma1,2. Their composition and downstream efficacy depend upon their maternal cell, cellular stimulus and target cell type. Human neutrophil microparticles promote tissue protection, and in some cases repair, by affecting function and phenotype of other inflammatory cells 3,4. Of these, tissue macrophages are central to the recovery of homeostasis after an inflammatory insult. Elucidating the mechanism by which neutrophil microparticles may (re)condition macrophages is necessary to harness them effectively as innovative therapeutic tools for chronic inflammatory conditions, such as rheumatoid arthritis. The objective of the presentation is to investigate the effects of neutrophil-derived microparticles on human monocyte-derived macrophage phenotype and to establish the mechanistic involvement of exposed microparticle phosphatidylserine. Title: Pseudoexon activation in nicotinamide nucleotidetranshydrogenase as a novel mechanism for disease in two siblings with Familial Glucocorticoid Deficiency Author(s): Tatiana Novoselova, Li Chan, Lou Metherell Summary Intronic DNA frequently encodes potential exonic sequences called pseudoexons. In recent years mutations resulting in aberrant pseudoexon inclusion have been increasingly recognised to cause disease. The objective is to find the genetic cause of Familial Glucocorticoid Deficiency (FGD) in two siblings. 5 Life Sciences Conference 2014: Population Health in a Post--Genomic Era 15 - 16 December 2014 Title: RNA sequencing of adrenals from mice with knockout or overexpression of nicotinamide nucleotide transhydrogenase reveals novel pathways perturbed by redox imbalance Author(s): Eirini Meimaridou, Lou Metherell Summary In humans nicotinamide nucleotide transhydrogenase (NNT) dysfunction leads to an adrenal specific disorder, glucocorticoid deficiency. NNT, a ubiquitous protein of the inner mitochondrial membrane, produces high concentrations of NADPH for detoxification of reactive oxygen species by glutathione and thioredoxin pathways. Certain sub-strains of C57BL/6J mice contain a spontaneous Nnt mutation and display glucocorticoid deficiency with glucose intolerance and reduced insulin secretion. A BAC transgenic rescue of this mouse strain results in overexpression of Nnt (1.9 fold over WT) Title: Co-assembly, spatio-temporal control, and morphogenesis of a hybrid peptide/protein system Author(s): Inostroza, Karla E., Collin, Estelle., Siton, Orit., Smith, Katherine H., Monge, Amàlia., Alonso, Matilde., Rodriguez-Cabello, José C., Ferrera, Daniela., Pérez Rodriguez, Raúl., Reis, Rui L, Sagués, Francesc., Botto, Lorenzo., Bitton, Ronit., Azevedo, Helena S., Mata, Alvaro. Summary The objective of this project is to fabricate a dynamic protein/peptide self-assembling system with hierarchical order and spatio-temporal control as a platform to create either personalised therapies for disease treatment (through molecularly designed materials) or biomimetic in vitro models for cell studies that can help understand how the environment changes the genome, how to influence it, and how to design more precise therapies. Title: Evidence synthesis for patient-specific decision support using Bayesian networks Author(s): Anthony Constantinou, Barbaros Yet, Norman Fenton, William Marsh Summary For patient-‐specific decision support it will often be necessary to combine information from genomic and post‐genomic datasets with other relevant physiological and social factors. This is challenging and requires the synthesis of evidence from published statistics and patient records. The objective is to demonstrate both the need for evidence synthesis for patient-specific decision support and ways to achieve this. 6 Life Sciences Conference 2014: Population Health in a Post--Genomic Era 15 - 16 December 2014 Poster presentations 15 – 16 December Title: Discovery of novel peptide regulators of collagenous tissue Author(s): Liisa M. Blowes, Himadri S. Gupta, Maurice R. Elphick Summary The aim of this study is to investigate how a peptide derived from collagen can modify MCT Title: Overcoming challenges in muscular dystrophy research: Genome editing tools for targeted gene correction in patient-specific iPSC Author(s): Beatrice Lana and Young-Yao Lin Summary Our research focuses on the study of allelic mutations in the putative glycosyltransferase FKRP gene, which cause a wide range of muscular dystrophy. In order to address this problem, we aim to develop an isogenic pair of control and patient-specific iPSC and use it as a model to study FKRP-deficient muscular dystrophy. Title: Vitamin D receptor genotype modifies the effect of vitamin D supplementation on risk of upper respiratory infection in COPD patients Author(s): David A Jolliffe, Wai Yee James, Richard Hooper, Charles A Mein, Robert Walton, Christopher J Griffiths, Adrian R Martineau Summary We have previously shown that vitamin D receptor (VDR) genotype modifies response to vitamin D supplementation in tuberculosis patients. Studies investigating the effects of genetic variation in the vitamin D pathway on response to vitamin D supplementation for protection against upper respiratory infection (URI) are lacking. 7 Life Sciences Conference 2014: Population Health in a Post--Genomic Era 15 - 16 December 2014 Title: Immunological control of the sense smell: lesson from the RAG-1-/- immunodeficent mice Author(s): Lorenza Rattazzi, Ridhika Poojara, Anna Cariboni, Fulvio D’Acquisto Summary The main objective of this study was to model in an experimental system the link between immunity and olfaction and to investigate the possible mechanisms behind this crosstalk Title: Massage-like stroking boosts the immune system in mice Author(s): Benjamin Major, Lorenza Rattazzi, Fulvio D’Acquisto Summary In this study, we tested the effects of stroking on the immune system of mice to better understand the immunomodulatory effects of massage-like therapy Title: Identification of the genetic alterations in prostate metastases Author(s): Elzbieta Stankiewicz, Xueying Mao, Tracy Chaplin, Daniel M. Berney, Yong-Jie Lu Title: Differential diagnosis of adrenal insufficiency by Whole Exome Author(s): Tatiana Novosoleva, Lou Metherell Other posters displayed at the conference include: QMUL Life Sciences – domains, research and vision for Life Sciences at QMUL Public Engagement at QMUL – information on public engagement projects at QMUL that link to Life Sciences Students and Life Sciences 8