PROGRAM
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16.30-16.40 | [ABSTRACT 261] A novel skin phenotype resulting from heterozygous deletion of six keratin genes J Mohamad,1,2 O Sarig,1 P Beattie,3 K Malovitski,1,2 S Assaf,1,2 EA O’Toole,4,5,6 J Schwartz,4 H Evans,4 L Samuelov1,2 and E Sprecher1,2,4 1 Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, 2 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel, 3 Department of Dermatology, Royal Hospital for Children, Glasgow, United Kingdom, 4 Pachyonychia Congenita Project, Holladay, UT, 5 Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom and 6 Department of Dermatology, The Royal London Hospital, London, United Kingdom |
16.40-16.50 | [ABSTRACT 181] Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions CJ Smith,1 JL Williams,1 C Hall,1 MP Caley,2 EA O’Toole,2 R Prasad1 and LA Metherell1 1 Department for Endocrinology, Queen Mary University London, London, United Kingdom and 2 CBCR, QMUL, London, United Kingdom |
16.50-17.00 | [ABSTRACT 262] The Role of Cholesterol in Rare Inflammatory Skin Disease M Riachi,1 S Polubothu,1 A Sauvadet,1 J Ellis2 and V Kinsler1 1 Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom and 2 Metabolomics, The Francis Crick Institute, London, United Kingdom |
17.00-17.10 | [ABSTRACT 263] EGFR signalling is overactive in Pachyonychia congenita: effective treatment with oral erlotinib J Basset,1 L Marchal1 and A Hovnanian1,2,3 1 Laboratory of genetic skin diseases, INSERMImagine Institute, Paris, France, 2 University of Paris, Paris, France and 3 Department of Genetics, Necker Hospital for Sick Children Assistance Publique des Hôpitaux de Paris (APHP), Paris, France |
17.10-17.20 | [ABSTRACT 264] PKC412 prevents epithelial sheet damage in epidermolysis bullosa simplex via keratin and cell contact stabilization K Rietscher,1 H Jahnke,2 M Rübsam,3,4 C Has,5 M Omary,6 C Niessen3,4 and TM Magin1 1 Institute of Biology, Leipzig University, Leipzig, Germany, 2 Center for Biotechnology and Biomedicine, Leipzig University, Leipzig, Germany, 3 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany, 4 Department Cell Biology of the Skin, University of Cologne, Cologne, Germany, 5 Department of Dermatology, University of Freiburg, Freiburg, Germany and 6 Center for Advanced Biotechnology and Medicine, and Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ |
17.20-17.30 | [ABSTRACT 268] ABE8e adenine base editor corrects COL7A1 nonsense mutation efficiently and safely A Sheriff,1 I Guri,1 P Zebrowska,2 V Llopis-Hernandez,1 I Brooks,1 G Newby,3 D Liu,3 L Laczmanski,2 JA McGrath1 and J Jackow1 1 St John’s Institute of Dermatology, King’s College London, London, United Kingdom, 2 Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wroclaw, Poland and 3 Broad Institute of Harvard and MIT, Cambridge,MA, Boston, NY |
17.30-17.40 | [ABSTRACT 269] Atopic polygenic risk score is associated with paradoxical eczema developing in psoriasispatients treated with biologics A Al-Janabi,1 S Eyre,4 AC Foulkes,1 AR Khan,2 N Dand,3 C Smith,5 C Griffiths,1 AP Morris4 and RB Warren1 1 Centre for Dermatology Research, University of Manchester, Manchester, United Kingdom, 2 UCB Biopharma, Slough, United Kingdom, 3 Department of Medical and Molecular Genetics, King’s College London, London, United Kingdom, 4 Centre for Genetics and Genomics Versus Arthritis, University of Manchester, Manchester, United Kingdom and 5 St John’s Institute of Dermatology, King’s College London, London, United Kingdom |
17.40-17.50 | [ABSTRACT 272] An exome wide association study identifies new genetic determinants for palmar plantar pustulosis A Hernandez,1 L Thomas,2 P Baum,3 S Visvanathan,4 J Barker,1,5 M Loset,2 C Smith1,5 and F Capon1 1 King’s College London, London, United Kingdom, 2 Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway, 3 Boehringer Ingelheim Pharma GmbH & Co., Biberach, Germany, 4 Boehringer Ingelheim Pharmaceuticals, Ridgefield, CT and 5 St John’s Institute of Dermatology, London, United Kingdom |
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