Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases is an open-access, peer-reviewed journal published by BioMed Central and the official journal of Orphanet, established in 2006, and it covers all aspects of rare diseases and orphan drugs, with a 2025 impact factor of 3.6（Orphanet Journal of Rare Diseases）是由（BioMed Central）出版的开放获取同行评审期刊，也是（Orphanet）的官方期刊，创刊于 2006 年，涵盖罕见病与孤儿药的各个方面，2025 年影响因子为 3.6。

Scope

• All aspects of rare diseases and orphan drugs罕见病与孤儿药的各个方面。
• High-quality reviews on specific rare diseases针对特定罕见病的高质量综述。
• Clinical trial outcome reports, whether positive or negative临床试验结果报告，无论阳性还是阴性。
• Public health issues in the field of rare diseases and orphan drugs罕见病与孤儿药领域的公共卫生问题。
• The journal does not accept case reports lacking clinical or pathological findings that add value该刊不接收缺乏临床或病理学价值的病例报告。

History

• The journal was launched in 2006, with a launch editorial by Ségolène Aymé, Bruno Dallapiccola and Dian Donnai该刊 2006 年创刊，创刊社论由（Ségolène Aymé）、Bruno Dallapiccola 与 Dian Donnai 撰写。
• Ségolène Aymé, director of Orphanet, was a leading editor as the journal grew out of the Orphanet rare disease database（Orphanet）主任（Ségolène Aymé）在期刊从（Orphanet）罕见病数据库发展而来的过程中担任主要编辑。
• It is published by BioMed Central, part of Springer Nature, and is the official journal of Orphanet该刊由隶属（Springer Nature）的（BioMed Central）出版，是（Orphanet）的官方期刊。
• It is an open access journal, with a 2025 impact factor of 3.6 and a five-year impact factor of 4.2该刊为开放获取期刊，2025 年影响因子为 3.6，五年影响因子为 4.2。

Editors

• The editor-in-chief is Francesc Palau of the Hospital Sant Joan de Déu Barcelona and CIBERER, Spain现任主编为西班牙（Hospital Sant Joan de Déu Barcelona）与（CIBERER）的 Francesc Palau。
• The journal is supported by an international editorial board with section editors for specialty areas该刊由设有各专科栏目编辑的国际编委会支持。
• It operates a single-blind peer review system, in which reviewer reports are anonymous but reviewers know the authors' identities该刊采用单盲同行评审，评审报告对作者匿名，但评审人知道作者身份。
• Manuscripts are evaluated first by the editor-in-chief, and the median time to first decision is 41 days稿件先由主编评估，初审中位时间为 41 天。