Concurrent 5: Genetics and Cell Based Therapy

Date: Friday 30 September 2022
Time: 16.30-18.00

Room 2

Chairs: Alain Hovnanian (Paris), Edel O’Toole (London)

Concurrent talks are 8 minutes plus 2 minutes discussion







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




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




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




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




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




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




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




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