Related Experiment Video
Updated: Jul 8, 2025
Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors
Published on: July 17, 2020
Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration
Janice N Schwartz1, Holly A Evans1, Edel A O'Toole2,3
1Pachyonychia Congenita Project, Salt Lake City, Utah, USA.
Insights
Pachyonychia Congenita (PC) is a painful skin disorder caused by keratin gene mutations. PC Project unites global stakeholders to advance research and develop treatments for this rare condition.
Area of Science:
- Dermatology
- Genetics
- Rare Diseases
Background:
- Pachyonychia Congenita (PC) is a rare, debilitating skin disorder.
- It is characterized by painful nail dystrophy and skin abnormalities.
- Genetic mutations in keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17) cause PC.
Purpose of the Study:
- To describe the Pachyonychia Congenita Project (PC Project) and its role in patient advocacy.
- To highlight the organization's programs: International Pachyonychia Congenita Consortium (IPCC) and International Pachyonychia Congenita Research Registry (IPCRR).
- To emphasize the goal of advancing research and drug development for PC treatments.
Main Methods:
- Patient advocacy and support.
- Global collaboration through consortium and research registry.
- Facilitating connections between patients, researchers, physicians, and industry.
Main Results:
- Established an international network for PC patients and stakeholders.
- Provided comprehensive patient support and diagnostics.
- United diverse groups to accelerate research and drug development.
Conclusions:
- PC Project is a key organization for advancing PC research and treatment.
- Collaboration is essential for addressing rare genetic skin disorders like PC.
- The organization aims to improve the lives of individuals with Pachyonychia Congenita through dedicated programs and global partnerships.
Abstract:
Pachyonychia Congenita Project (PC Project) is an international patient advocacy organization dedicated to patients who suffer from pachyonychia congenita (PC). This condition is a painful and debilitating skin disorder caused by a mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16,or KRT17. Through two primary programs, namely the International Pachyonychia Congenita Consortium (IPCC) and the International Pachyonychia Congenita Research Registry (IPCRR), PC Project provides comprehensive patient support and diagnostics while uniting patients, researchers, physicians, and industry partners on a global level to advance research and drug development for meaningful treatments and, ultimately, a cure for PC.
