ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
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新一代测序是一种流行的未诊断疾病的诊断工具，并在罕见疾病基因发现中发挥了重要作用。虽然这项技术解决了一些问题，但也有一些可能有害的基因变异需要进行功能研究。科学家、临床医生和患者（受影响的个体）之间富有成效的合作可以帮助解决这些医学谜团，并为人类基因的体内功能提供见解。此外，促进科学家和研究资助者（包括非营利组织或商业实体）之间的互动，可以大大减少将发现从实验室转化为临床的时间。一些旨在将临床医生和研究人员与共同感兴趣的基因联系起来的系统已经取得了成功。然而，这些平台根据他们的角色或地理位置排除了一些利益相关者。在这里，我们描述了ModelMatcher，一个全球在线配对工具，旨在促进跨学科合作，特别是在罕见和未确诊疾病研究的科学家和其他利益相关者之间。ModelMatcher集成到罕见疾病模型和机制网络和媒人交换中，允许用户在其他注册表中识别潜在的合作者。这个活的数据库缩短了科学家或临床医生从发现他们感兴趣的基因到确定合作者和赞助者以促进转化和治疗研究的时间。
Next-generation sequencing is a prevalent diagnostic tool for undiagnosed diseases and has played a significant role in rare disease gene discovery. While this technology resolves some cases, others are given a list of possibly damaging genetic variants necessitating functional studies. Productive collaborations between scientists, clinicians, and patients (affected individuals) can help resolve such medical mysteries, and provide insights into in vivo function of human genes. Furthermore, facilitating interactions between scientists and research funders, including non-profit organizations or commercial entities, can dramatically reduce the time to translate discoveries from bench to bedside. Several systems designed to connect clinicians and researchers with a shared gene of interest have been successful. However, these platforms exclude some stakeholders based on their role or geography. Here we describe ModelMatcher, a global online matchmaking tool designed to facilitate cross-disciplinary collaborations, especially between scientists and other stakeholders of rare and undiagnosed disease research. ModelMatcher is integrated into the Rare Diseases Models and Mechanisms Network and Matchmaker Exchange, allowing users to identify potential collaborators in other registries. This living database decreases the time from when a scientist or clinician is making discoveries regarding their genes of interest, to when they identify collaborators and sponsors to facilitate translational and therapeutic research.
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影响因子：
5.2
作者：
Wakap, Stephanie Nguengang;Lambert, Deborah M.;Rath, Ana
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Rath, Ana
影响因子：
13.6
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Bangi, Erdem;Ang, Celina;Cagan, Ross L.
通讯作者：
Cagan, Ross L.
影响因子：
3.9
作者：
Sobreira N;Schiettecatte F;Boehm C;Valle D;Hamosh A
通讯作者：
Hamosh A
影响因子：
3.7
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Baldridge D;Wangler MF;Bowman AN;Yamamoto S;Undiagnosed Diseases Network;Schedl T;Pak SC;Postlethwait JH;Shin J;Solnica-Krezel L;Bellen HJ;Westerfield M
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Westerfield M
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1.9
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McConkie-Rosell, Allyn;Hooper, Stephen R.;Shashi, Vandana
通讯作者：
Shashi, Vandana