Thursday February 14
4:30 pm Registration
6:00 pm Welcome and Introductions
Pierre Coulombe, Dennis Roop, Mary Schwartz
6:30 pm Dinner
Keynote Address: Sharon Terry, Genetic Alliance, Washington DC, USA
Friday February 15
7:00 am Breakfast buffet for guests and spouses
Introduction
7:50-8:00 am Vision 20/20
Mary Schwartz, Pachyonychia Congenita Project, Utah, USA
8:00-8:10 am IPCRR and the IPCC: Case Studies; Data; Research Studies
(video presentation; printed program materials and posters)
8:15-8:30 am Pachyonychia Congenita: What We Know 2013
Edel O’Toole, Barts and the London School of Medicine and Dentistry,
Queen Mary University of London, UK
Scientific Session 1 – Preclinical (Dennis Roop, Session Chair)
8:35-8:50 am Genetics of Pachyonychia Congenita
Frances Smith, University of Dundee, Dundee, Scotland UK
8:55-9:15 am Palmoplantar keratoderma: A role for exaggerated alarmin response?
Pierre Coulombe, Johns Hopkins University, Maryland, USA
9:20–9:40 am Mouse models of keratoderma and for optimizing siRNA delivery
Irwin McLean, University of Dundee, Dundee, Scotland UK
9:45-10:15 am Break
10:20–10:35 am Keratinocyte TRPV channels make skin sensational
Michael Caterina, Johns Hopkins University, Maryland, USA
Manoj Agarwala, Christian Medical College, India
Anna Bruckner, University of Colorado, Colorado, USA
Inacio Rezende Faver, Miracema-RJ , Brazil
Ilan Goldberg, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
Jana Hercogova, Charles University Prague, Czech Republic
Yongmei Lv, Anhui Medical University, Anhui, China
Leonard Milstone, Yale University, Connecticut, USA
10:40-10:55 am Itchy Skin: Scratching for an explanation
Gil Yosipovitch, Wake Forest University Health Sciences
11:00-11:15 am The role of keratin in pain
Michael Polydefkis, Johns Hopkins Hospital, Maryland, USA
11:20-11:35 am RNA profiling of PC skin
Yuan Cao, TransDerm Inc, California, USA
11:40-11:55 am Corneocyte proteomic profiles – possible application to skin disease?
Robert Rice, University of California Davis, California, USA
12:00–1:15 pm Working Lunch – Discussion
Afternoon Recreation/free time: Ski or alternate recreation
6:00 pm Social Hour (hosted)
7:00 pm Dinner (hosted)
Speaker: TBA
Saturday February 16
7:00 am Breakfast buffet for guests, spouses
7:50-8:05 am Vision 2020
Mary Schwartz, Pachyonychia Congenita Project, Utah, USA
Scientific Session 2 – Clinical (C. David Hansen, Session Chair)
8:10-8:30 am Pluripotent stem cells as a cellular model for ectodermal dysplasia syndromes
Daniel Aberdam, INSERM U633, France
8:35-8:55 am Dyskeratosis congenita: a rare but highly informative telomere biology disorder
Sharon Savage, NIH-NCI, Maryland, USA
9:00-9:15 am Connexin-mediated skin disease
Maurice van Steensel, University Hospital Maastricht, The Netherlands
9:20-9:35 am A Soft Story
Eli Sprecher, Tel Aviv Sourasky Medical Center, Israel
9:40-9:55 am Topical Rapamycin for genetic skin disease and transepidermal delivery
Joyce Teng, Stanford University, California, USA
10:00-10:30 Break
10:35-10:50 am TBA
10:55-11:10 am Preclinical and clinical development of an antisense for skin scarring
Nicholas Dean, California, USA
11:15-11:30 am PC Statin Study and DQLI for PC
Peter Hull, Royal University Hospital, Saskatchewan, Canada
11:35-11:55 am Upcoming sd101 and topical rapa clinical trials
Roger Kaspar, TransDerm, Inc, California, USA
12:00–1:15 pm Working Lunch – Discussion
Afternoon Recreation/free time: Ski or alternate recreation
4:00 – 6:00 pm Discussion Session: Planning Goals for IPCC – 2013 Forward
Leonard Milstone, Chair
Open to all; attendance optional
6:00 pm Social Hour (hosted)
7:00 pm Dinner (hosted)
Speaker: TBA
Sunday Feb 17
10:00-12:15 pm Closing Brunch Homestead Report
Speaker: Sancy Leachman, University of Utah, Utah, USA
Contact and Registration: Mary Schwartz, Director 801-401-6300 or 877-628-7300 (tollfree)