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

 

PROGRAM

 

 

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