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PC Research Session at the 2025 ESDR

September 27, 2025

A Landmark Meeting Focused on PC

PC Project participated in the 2025 European Society for Dermatology Research (ESDR) Annual Meeting held in Antwerp, Belgium, September 10-13, 2025. We had a booth at the Patient Village, attended inspiring sessions, networked with new and old friends, and held the first-ever PC Project-sponsored research session at the ESDR!

The PC research session was held on Saturday, September 13, from 10–11 AM. It was a landmark session exploring how multi-omics analyses are guiding targeted therapies in skin disease. Most importantly, this milestone session showcased how cutting-edge research in Pachyonychia Congenita is shaping the future of treatment for rare skin disorders.

Scroll down to see photos from the ESDR.

SESSION PROGRAM
Pachyonychia Congenita: A Paradigm for Patient-Driven Research from Pathogenesis to Treatment

What’s in a Disease Name?

Eli Sprecher, MD, PhD, MBA

CEO, The Tel Aviv Sourasky Medical Center (Ichilov); Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel

Eli Sprecher is CEO of the Tel Aviv Sourasky Medical Center where he previously chaired the Division of Dermatology and served as Deputy Director for Patient Safety and Deputy Director for Research and Development. He is Frederick Reiss Professor of Dermatology at the Faculty of Medicine, Tel Aviv University and is past-president of the European Society for Dermatological Research (ESDR).
He received an MD degree from the Hebrew University, a PhD degree in Molecular Virology from the Hebrew University and an MBA degree from Tel Aviv University, and also spent a post-doctoral fellowship in Human Genetics at the Thomas Jefferson University, Philadelphia.
He has co-authored over 400 scientific publications and has earned several patents. He has mentored over 110 students and residents. His research focuses on the genetic basis of skin diseases. His group aims at understanding the molecular genetics of both simple and complex traits, deciphering their pathogenesis and then attempting at translating this new knowledge into innovative therapeutic tools.

Unmet Need to Discovery: Accelerating Patient-Centered Research for Rare Genetic Skin Disorders

Janice Schwartz, BA

Executive Director, Pachyonychia Congenita Project

Janice Schwartz received a B.A. in communications with an emphasis in advertising from Brigham Young University. She raised four children (two who have PC), was a founding member of PC Project, and has served as a patient advocate for over 20 years. In 2017, Janice became the Executive Director and donates her time and efforts to continue the mission to help and support patients and to find effective treatments and a cure for those who suffer with PC and other rare, genetic skin diseases with painful palmoplantar keratoderma. Although she was first motivated to help her own children with PC, she quickly became driven by love for her other ‘children’ of all ages throughout the world who deal with these debilitating conditions.

Key Insights from Modeling Pachyonychia Congenita in Mice

Pierre A. Coulombe, PhD

G. Carl Huber Professor and Chair, Department of Cell & Developmental Biology, University of Michigan Medical School, Ann Arbor, MI

Pierre has been serving as professor and chair of the Department of Cell & Developmental Biology at the University of Michigan Medical School since 2017. Up until then, Pierre had been on faculty at the Johns Hopkins University in Baltimore, Maryland, where he held numerous leadership roles. Pierre’s primary passion is for epithelial biology – efforts in his laboratory are focused on defining the properties and roles of keratin proteins in normal healthy skin and their alterations in the setting of various types of skin diseases. Pierre has been associated with the Pachyonychia Congenita Project since its inception >20 years ago, and currently leads the research committee in the PC project. Pierre also enjoys mentoring aspiring scientists and health professionals.

Proteomics and Phosphoproteomics to Unravel Pachyonychia Congenita Pathogenesis

Alain Hovnanian, MD, PhD

Professor of Genetics and Laboratory director, Imagine Institute for Genetic Diseases, INSERM, Necker Hospital, University Paris Cite, Paris, France

Alain Hovnanian is professor of Genetics at Necker hospital for sick children in Paris, and director of a research laboratory dedicated to genetic skin diseases at the Imagine Institute and Paris Cité University, France. He has identified the defective genes of several severe skin diseases and has developed a strong interest in PC. He recently showed that the EGFR pathway is activated in PC lesional skin and that the oral EGFR inhibitor erlotinib significantly improves PC patient pain and quality of life.

Emerging Treatments and a Call for Collaborative Innovation in Rare Genetic Skin Diseases

Edel O’Toole, MD, PhD, FRCPI, FRCP

Professor of Molecular Dermatology, Co-Director of HARP PhD Programme for Health Professionals, Queen Mary University of London, England UK

Professor O’Toole is a clinical academic in the Blizard Institute at Queen Mary University of London with an active research group working on diverse aspects of keratinocyte biology related to rare skin disease. Her clinical interests are genetic skin disease (palmoplantar keratodermas and ichthyoses) and pediatric dermatology.  She is the co-director of the Wellcome-funded HARP (Health Advances in Underrepresented Populations and Diseases) doctoral training programme.  She has been part of the Genetics group of PC Project since 2006 and has been chief investigator for 2 PC trials in the UK. 

While in Antwerp, because we love to connect with local patients when we travel, PC Project enjoyed a meal and the company of some amazing people in our patient community.

Here is an assortment of photos from our time in Belgium:

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PACHYONYCHIA CONGENITA PROJECT

P.O. Box 17850
Holladay, UT 84117

info@pachyonychia.org

801-987-8758

EIN 68-0567493

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