Immunogenomics of disease: accelerating to patient benefit. Conference Programme

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1 Immunogenomics of disease: accelerating to patient benefit Wellcome Genome Camps Conference Centre, Hinxton, Cambridge 6-8 February 2017 Lectures to be held in the Francis Crick Auditorium Lunch and dinner to be held in the Hall Restaurant Poster sessions to be held in the Conference Centre Spoken presentations - If you are an invited speaker, or your abstract has been selected for a spoken presentation, please give an electronic version of your talk to the AV technician. Poster presentations If your abstract has been selected for a poster, please display this in the Conference Centre on arrival. Conference Programme Monday, 6 February :30-14:00 Registration 14:00-14:10 Welcome and Introduction Programme Committee 14:10-15:00 Keynote Lecture: Genes to clinic in autoimmune diabetes John Todd 15:00-16:00 Session 1: Systemic autoimmunity and autoinflammation Chair: Sophie Hambleton 16:00-16:30 Afternoon Tea 15:00 Context-specific gene regulation and complex immunemediated traits and diseases Soumya Raychaudhuri Brigham and Women's Hospital, USA 15:30 TNFAIP3/A20 and Inflammatory Diseases: Insights from common and rare genetic variants Ivona Aksentijevich, National Institutes of Health, USA

2 16:30-18:00 Session 2: Systemic autoimmunity and autoinflammation continued 16:30 The complotype -implications for disease risk and therapy Claire Harris University of Newcastle, UK 17:00 Type I interferon-mediated monogenic autoinflammation Yanick Crow Imagine Institute, France 17:30 Heterozygous mutations in the CTLA-4 pathway: quantitative and qualitative insights into the apical autoimmune checkpoint of adaptive immunity David Sansom, University College London, UK Deconvolution of whole blood eqtls into rare immune subpopulations uncovers key players of immune mediated diseases Raul Aguirre-Gamboa, Lightning talks 1-min intro from poster presenters 18:30 Poster Session 1 (odd numbers) with Drinks Reception 19:30 Dinner Tuesday, 7 February :00-10:30 Session 3: Gastrointestinal autoinflammation and the microbiome Chair: Carl A. Anderson 09:00 TBC Michel Georges University of Liege, Belgium 09:30 Mendelian disorders and inflammatory bowel disease - from genomics to patient care Holm Uhlig 10:00 The metagenomes of inflammatory bowel disease and irritable bowel syndrome a large case-control analysis Rinse Weersma

3 10:30-11:00 Morning Coffee 10:15 Altered T-bet Binding and Gene Expression at Single Nucleotide Polymorphisms Associated with Mucosal Inflammatory Disease Arnulf Hertweck, University College London, UK 11:00-12:30 Session 4: Gastrointestinal autoinflammation and the microbiome continued 12:30-14:00 Lunch 11:00 Immune regulation of intestinal health and disease Gregory Sonnenberg Weill Cornell Medicine, USA 11:30 The Human Functional Genomics Project: towards understanding human immune Cisca Wijmenga 12:00 The role of gluten-specific T cells in Celiac Disease Iris Jonkers, 12:15 Autosomal recessive p110delta deficiency causes profound immune dysregulation in humans David Swan Newcastle University, UK 14:00-15:15 Session 5: Organ-specific autoimmune and autoinflammatory diseases Chair: Sophie Hambleton 15: Afternoon Tea 14:00 Novel Insights into Sjögren s Syndrome Revealed by Genetic Discoveries Kathy (Moser) Sivils Oklahoma Medical Research Foundation, USA 14:30 Functional genetics in MS Lars Fugger 15:00 Reduced diabetes-free survival in NOD mice following CRISPR mutagenesis of Dexi, a candidate causal gene at the 16p13.13 human autoimmunity locus Lucy Davison

4 15:45-17:30 Session 6: Immunogenomic approaches and therapeutic advances 15:45 The influence of immunogenetic variation on HIV disease Mary Carrington Leidos Biomedical Research Inc., USA 16:15 Impaired counterselection of developing autoreactive B cells in autoimmune diseases Eric Meffre, Yale University, USA. 16:45 Preliminary validation of the IL-36 receptor as a safe therapeutic target for the treatment of psoriasis Francesca Capon King's College London, UK Histiocytosis: a lethal multi-system inflammatory disease caused by <1% clonal hematopoiesis Matthew Collin Newcastle University, UK 17:15 An immunogenomic approach to predictive immune therapeutic target discovery Hai Fang Wellcome Trust Centre for Human Genetics, UK Lightning talks 1-min intro from poster presenters 18:00-19:00 Poster Session 2 (even numbers) with drinks reception 19:00 Dinner Wednesday, 8 February :00-11:00 Session 7: Genetic and genomic diversity of immune cells Chair: Julian Knight 09:00 From association to function: genomic approaches to interpret autoimmune disease variants Gosia Trynka 09:30 Chromatin accessibility and gene expression profiles of CD8+ T cells in viral infection and cancer Anjana Rao La Jolla Institute, USA 10:00 Understanding Cellular Heterogeneity Sarah Teichmann

5 11:00-11:30 Morning Coffee 10:30 Genetic impact on the human innate immune system Sarah Kim Hellmuth New York Genome Center, USA 10:45 Chromosome contacts in activated T cells identify autoimmune disease-candidate genes Chris Wallace University of Cambridge, UK 11:30-12:00 Session 8: Genetic and genomic diversity of immune cells continued Chair: Julian Knight. 11:30 Large-scale blood trans-eqtl meta-analysis Urmo Võsa University Medical Center Groningen, University of Groningen, The Netherlands 11:45 Fine-mapping condition-specific regulatory variants in human macrophages using ATAC-seq Kaur Alasoo 12:00-12:50 Keynote Lecture: Genomic approaches to solving primary immune disorders Micheal Lenardo National Institutes of Health, USA 12:50 Conference summary and closing remarks: Programme Committee 13:00-13:45 Lunch & depart

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