With excellent presentations, a room packed with researchers, and many more standing in the back, our annual meeting of scientific collaboration to advance research and drug development for those who suffer from PC exceeded our expectations!
Date: May 10th, 2023
Time: 8:00 am to 1:00 pm, Tokyo, Japan
Location: Takao Room (42nd Floor) at the Keio Plaza Hotel Tokyo, Japan
The meeting was held in person in conjunction with the First International Societies for Investigative Dermatology (ISID) Meeting in Japan.
All researchers, clinicians, and industry representatives interested in PC (and other rare conditions with painful PPK) were invited to join at no cost.
For symposium attendees, PC Project hosted a traditional Japanese dinner Tuesday, May 9th (the night before the meeting) at 6:00pm JST at Koshitsu Izakaya Banya Nishi Shinjuku, 2-6-1 Nishi Shinjuku, Sjinjuku Sumitomo Bldg. 49 Floor, Shinjuku, Tokyo 163-0249. It was a lovely evening with good company, good food, and a spectacular view.
Click here for the program book in pdf format. Below were the featured speakers for this meeting:
8:00 AM | PC Project Update Janice Schwartz, BA Executive Director, Pachyonychia Congenita Project |
 | 蕾 Tsubomi (Pathogenesis session) |
 | Chair: Edel O’Toole, MD, PhD, FRCP Professor of Molecular Dermatology, Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London and Consultant Dermatologist, Royal London Hospital |
8:10 AM | Palmoplantar keratodermas in 5 steps Eli Sprecher, MD, PhD, MBH Chair, Division of Dermatology, Deputy Director General for R&D and Innovation, Tel Aviv Sourasky Medical Center, Frederick Reiss Professor of Dermatology and Vice Dean for Clinical Affairs, Faculty of Medicine, Tel Aviv University. Tel Aviv, Israel; IPCC Chair |
8:30 AM | Effects of keratin gene loss on epidermal keratinization programs Leopold Eckhart, PhD Associate Professor, Department of Dermatology, Medical University of Vienna, Vienna, Austria |
8:45 AM | Experience with autograft therapy using revertant keratinocytes in severe recessive epidermolysis bullosa Akiharu Kubo, MD, PhD Professor, Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine |
9:00 AM | Neuronal control of sweat gland stem cells in the palmoplantar skin Catherine Pei-ju Lu, PhD Assistant Professor, Hansjӧrg Wyss Department of Plastic Surgery, New York University Grossman School of Medicine |
9:15 AM | Molecular mechanisms of intermediate filament tetramerization Christopher G. Bunick, MD, PhD Associate Professor of Dermatology Program in Translational Biomedicine, Yale University |
9:30 AM | Connecting Skin Inflammation and Morphogenesis through Desmosomes Kathleen J. Green, PhD Joseph L. Mayberry Professor, Departments of Pathology and Dermatology, Northwestern University Feinberg School of Medicine |
9:45 AM | Pachyonychia congenita keratin isoforms modulate motility signals during wound healing Benjamin A. Nanes, MD, PhD Instructor of Dermatology, University of Texas Southwestern Medical Center |
| 10:00 AM | BREAK – Group Photo |
 | 開花 Kaika (Therapies session) |
 | Chair: Roger Kaspar, PhD CSO and founder of Ayni Therapeutics |
10:15 AM | Towards an in vitro model of Pachyonychia Congenita Laura Ramos, PhD Postdoctoral Researcher, Blizard Institute, Queen Mary University of London, UK |
10:25 AM | Innovations in CRISPR gene editing for epidermolysis bullosa Joanna Jacków, PhD Lecturer in Molecular Dermatology and Therapeutics, St. John’s Institute of Dermatology, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, King’s College London |
10:40 AM | Personalized preclinical gene editing protocols for in vivo correction of pachyonychia congenita Marta Garcia Diez, PhD Bioengineering Department, Universidad Carlos III de Madrid (UC3M); Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT); Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII); Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD), Madrid, Spain |
10:55 AM | Gene therapy for Epidermolysis Bullosa M. Peter Marinkovich, MD Associate Professor Stanford University |
| 11:10 AM | BREAK |
 | 満開 Mankai (Clinical insights and disease modeling session) |
 | Chair: Alain Hovnanian, MD, PhD INSERM UMR1163, Imagine Institute, Department of Genetics, Necker hospital for sick children, Paris University, Paris, France |
11:25 AM  | Mouse models for Pachyonychia Congenita Pierre A. Coulombe, PhD & Amanda Orosco, PhD Candidate G. Carl Huber Professor and Chair, Department of Cell and Developmental Biology, University of Michigan Medical School |
11:40 AM | Lessons learned from pachyonychia congenita may provide clues to the pathogenesis of hidradenitis suppurativa Michelle Lynn Kerns, MD, MS Assistant Professor of Dermatology at Cleveland Clinic |
11:55 AM | Erythromelalgia: A newly identified feature of pachyonychia congenita Rebecca McCarthy, BMBS (Hons), BSc (Hons) Clinical Fellow for Professor Edel O’Toole, Blizard Institute, Queen Mary University of London |
12:05 PM | Palmoplantar keratoderma’s in the Netherlands, a continued learning experience Antoni Gostynski, MD, PhD Dermatologist, Maastricht University Medical Center |
12:20 PM | Complicated genetic background of palmoplantar keratoderma in Japanese: A heterozygous SERPINB7 variant is a possible modifying factor for clinical features. Masashi Akiyama, MD, PhD Vice Dean, Nagoya University Graduate School of Medicine, Nagoya, Japan, Professor and Chairman, Department of Dermatology |
12:35 PM | 花吹雪 Hanafubuki – Renewed commitment and a brighter future for patients! Lunch & Symposium Adjourns |
| 1:15PM | PC Project’s Medical and Scientific Advisory Board Meeting By Invitation Only |
