Global partnerships in rare disease research.

IF 3.3 3区 医学 Q2 CELL BIOLOGY
Disease Models & Mechanisms Pub Date : 2025-07-01 Epub Date: 2025-07-28 DOI:10.1242/dmm.052401
Sanja Rogic, Guillaume Poirier-Morency, Philip Hieter, Paul Pavlidis
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引用次数: 0

Abstract

Rare diseases collectively impact hundreds of millions worldwide, yet the genetic causes of many remain unknown or poorly understood. Model organisms (MOs) - such as yeast, fly, zebrafish and mouse - provide powerful experimental systems for functional validation of candidate genes and variants, elucidation of gene function and disease mechanisms, and identification of potential therapeutic targets and treatments. However, gaps persist between clinical gene discovery and MO-based research. The Canadian Rare Diseases: Models and Mechanisms (RDMM) Network was established in 2014 to address this gap by linking clinicians with MO researchers through a scientist registry and peer-reviewed funding process. Over the past decade, the RDMM Network has funded over 160 collaborative projects, enabled insights into numerous rare conditions, and led to sustained partnerships and external funding. The RDMM Registry software has been adopted internationally, forming a network of interoperable registries that enable cross-border collaborations and expand access to MO expertise worldwide. Going forward, the Canadian RDMM Network remains committed to sharing its tools, processes and experience to help establish new RDMM-like networks worldwide and invites the global research community to join efforts to accelerate rare disease research.

罕见病研究方面的全球伙伴关系。
罕见病共同影响着全世界数亿人,但许多罕见病的遗传原因仍然未知或知之甚少。模式生物(MOs)——如酵母、苍蝇、斑马鱼和小鼠——为候选基因和变异的功能验证、基因功能和疾病机制的阐明以及潜在治疗靶点和治疗方法的确定提供了强大的实验系统。然而,临床基因发现与基于mo的研究之间仍然存在差距。加拿大罕见疾病:模型和机制(RDMM)网络于2014年建立,通过科学家注册和同行评审的资助过程将临床医生与MO研究人员联系起来,以解决这一差距。在过去十年中,RDMM网络资助了160多个合作项目,使人们能够深入了解许多罕见疾病,并建立了持续的伙伴关系和外部资金。RDMM注册表软件已在国际上采用,形成了一个可互操作的注册表网络,使跨境合作成为可能,并扩大了对全球MO专业知识的获取。展望未来,加拿大RDMM网络将继续致力于分享其工具、流程和经验,以帮助在全球范围内建立新的类似RDMM的网络,并邀请全球研究界共同努力,加速罕见病研究。
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来源期刊
Disease Models & Mechanisms
Disease Models & Mechanisms 医学-病理学
CiteScore
6.60
自引率
7.00%
发文量
203
审稿时长
6-12 weeks
期刊介绍: Disease Models & Mechanisms (DMM) is an online Open Access journal focusing on the use of model systems to better understand, diagnose and treat human disease.
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