Concurrent Session 4: Genetics & Cell Based Therapy

Date: Friday 29 September 2017
Time: 16.10-17.35
Room: Europa Hall

Chairs: Ryan O'Shaughnessy, Verena Wally 

Concurrent talks are 8 minutes plus 2 minutes discussion.



035 (Poster 180)
Decorin Increases Survival and Ameliorates Disease Phenotype of Col7a1 Hypomorphic Mice
F Cianfarani,1 A Nystroem,2 V Mittapalli,2 S Mastroeni,3 D Abeni,3 L Bruckner-Tuderman,2 G Zambruno,4 D Castiglia1 and T Odorisio1 1 Laboratory of Molecular and Cell biology, IDI-IRCCS, Rome, Italy, 2 Dermatology, University of Freiburg, Freiburg, Germany, 3 Clinical Epidemiology Unit, IDI-IRCCS, Rome, Italy and 4 Dermatology Unit, Bambino Gesù Children’s Hospital-IRCCS, Rome, Italy

16.20-16.30 036 (Poster 179)
Systemic administration of HMGB1 peptide drastically improves survival of the RDEB model mice by mobilizing multipotent stem/progenitor cells from bone marrow

K Tamai,1,2 S Yamazaki,1,3 X Wang,1,3 M Nishida,1,3 T Shimbo,1 Y Kikuchi,1 L Bruckner-Tuderman,4 J Uitto,5 I Katayama2 and Y Kaneda3 1 Stem Cell Therapy Science, Osaka University, Suita, Japan, 2 Dermatology, Osaka University, Suita, Japan, 3 Genomix, Ibaraki, Japan, 4 Dermatology, University of Freiburg, Freiburg, Germany and 5 Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, USA
16.30-16.40 037 (Poster 177)
VPS33B mutations cause ARKID syndrome affecting Rab protein interaction, collagen modification and epidermal structure
R Gruber,1 C Rogerson,2 C Windpassinger,3 R Strohal,5 M Schmuth,1 P Kroisel,3 AR Janecke4 and P Gissen2,6 1 Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Innsbruck, Austria, 2 MRC Laboratory for Molecular Cell Biology,
University College London, London, United Kingdom, 3 Institute of Human Genetics, Medical University of Graz, Graz, Austria, 4 Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria, 5 Department of Dermatology, Academic Teaching Hospital Feldkirch, Feldkirch, Austria and 6 Institute of Child Health, University College London, London, United Kingdom
16.40-16.50 038 (Poster 195)
The identification of a postzygotic GJA1 mutation in a patient with an inflammatory linear verrucous epidermal nevus suggests that the disease is a mosaic of erythrokeratodermia variabilis et progressiva

N Umegaki-Arao,1 T Sasaki,1,2 H Fujita,1 S Aoki,1 M Amagai,1 M Seishima3 and A Kubo1 1 Dermatology, Keio University School of Medicine, Tokyo, Japan, 2 Center for Supercentenarian Medical Research, Keio University School of Medicine, Tokyo, Japan and 3 Dermatology, Gifu University Graduate School of Medicine, Gifu, Japan
16.50-17.00 039 (Poster 176)
A Distinct Cutaneous Blistering Phenotype with Multi-System Manifestations Caused by a Mutation in CD151, the 20th Causative Gene in Epidermolysis Bullosa

J Uitto,1 L Youssefian,1 A Saeidian,1 H Mahmoudi,2 A Touati,1 J McGrath,4 S Zeinali,2 P Fortina3 and H Vahidnezhad1 1 Dermatology and Cutaneuous Biology, Thomas Jefferson University, Philadelphia, PA, 2 Tehran University of Medical Sciences, Tehran, Iran (the Islamic Republic of), 3 Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA and 4 Dermatology, St. John’s Institute, London, United Kingdom
17.00-1710 040 (Poster 192)
Loss of keratinocyte type VII collagen induces increased DNA damage in vitro and in vivo

S Marsh,1 M Caley,1 V Martins,1 MR Barnes,2 M Chen3 and EA O’Toole1 1 Centre for Cutaneous Research, Barts and The London School of Medicine and Dentistry, Whitechapel, United Kingdom, 2 Genome Centre, QMUL, London, United Kingdom and 3 Department of Dermatology, USC, Los Angeles, USA
17.10-17.20 041 (Poster 190)
Biallelic correction of recessive dystrophic epidermolysis bullosa mutations in iPSCs using CRISPR/Cas9- based genme editing

J Jackow,1 Z Guo,1 E Abaci,1 Y Doucet,1 C Hansen,1 J Salas-Alanis2 and A Christiano1 1 Dermatology, Columbia University, New York, NY and 2 Univeridad de Monterrey, Monterrey, Mexico
17.20-17.30 042 (Poster 204)
Epidermodysplasia verruciformis: Clinical, viral, and histopathological phenotype in patients with EVER3 mutation

E Imahorn,1 SJ de Jong,2 I Spoerri,1 W Kempf,3 C Imhof,4 P Häusermann,5 E Jouanguy,2 J Casanova,2 B Burger1 and P Itin1,5 1 Department of Biomedicine, University Hospital of Basel and University of Basel, Basel, Switzerland, 2 St. Giles Laboratory, The Rockefeller
University, New York City, NY, 3 Kempf and Pfaltz Histological Diagnostics, Zurich, Switzerland, 4 Stadtpraxis Brig, Brig, Switzerland and 5 Department of Dermatology,University Hospital Basel, Basel, Switzerland