Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration.

Autor: Schwartz JN; Pachyonychia Congenita Project, Salt Lake City, Utah, USA., Evans HA; Pachyonychia Congenita Project, Salt Lake City, Utah, USA., O'toole EA; Centre for Cell Biology and Cutaneous Research, Blizard Institute, The Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, United Kingdom., Hansen CD; Pachyonychia Congenita Project, Salt Lake City, Utah, USA.; Department of Dermatology, University of Utah, Salt Lake City, Utah, USA.
Jazyk: angličtina
Zdroj: The Keio journal of medicine [Keio J Med] 2023 Dec 08. Date of Electronic Publication: 2023 Dec 08.
DOI: 10.2302/kjm.2023-0015-IR
Abstrakt: 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.
Databáze: MEDLINE