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

IF 1.1 Q4 MEDICINE, RESEARCH & EXPERIMENTAL KEIO JOURNAL OF MEDICINE Pub Date : 2023-12-08 DOI:10.2302/kjm.2023-0015-IR
Janice N Schwartz, Holly A Evans, Edel A O'toole, C David Hansen
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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.

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先天性红斑狼疮项目:通过合作推进研究和药物开发。
先天性软骨病项目(PC 项目)是一个国际性患者权益组织,致力于为先天性软骨病(PC)患者提供帮助。这种疾病是由五个角蛋白基因中的一个基因突变引起的一种令人痛苦和衰弱的皮肤疾病:KRT6A、KRT6B、KRT6C、KRT16 或 KRT17。通过两个主要项目,即国际先天性红斑狼疮联盟(IPCC)和国际先天性红斑狼疮研究登记处(IPCRR),PC 项目为患者提供全面的支持和诊断,同时在全球范围内联合患者、研究人员、医生和行业合作伙伴,推动研究和药物开发,以获得有效的治疗方法,并最终治愈 PC。
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来源期刊
KEIO JOURNAL OF MEDICINE
KEIO JOURNAL OF MEDICINE MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.10
自引率
0.00%
发文量
23
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