The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms
复制标题
DOI：
10.1016/j.ajhg.2020.01.009
复制
发表时间：
2020-02-06
影响因子：
9.8
通讯作者：
Hieter, Philip
中科院分区：
文献类型：
--
作者：
Boycott, Kym M.;Campeau, Philippe M.;Hieter, Philip
基因组学的进步已经改变了我们识别罕见疾病（RD）遗传原因的能力，但我们对大多数基因在健康和疾病中的机制作用的了解有限。当一个新的RD基因首次被发现时，对其生物学功能、致病变异的致病机制以及如何治疗的了解很少。为了解决这一差距，建立了加拿大罕见疾病模型和机制网络（RDMM），将发现新疾病基因的临床医生与能够研究模型生物（MO）中等效基因和途径的加拿大科学家联系起来。该网络是围绕着500多名加拿大科学家的注册而建立的，代表了7 500多个人类基因的专业知识。RDMM使用委员会程序来确定和评估临床医生-MO科学家合作，并批准25，000加元的催化剂资金。到目前为止，我们已经建立了85个临床医生-MO科学家联系，并资助了105个项目。这些合作有助于确认变异的致病性并揭示RD的分子机制，还可以测试新的疗法并导致长期合作。为了扩大这种模式的影响和范围，我们使RDMM注册表开源，可移植和可定制，我们自由分享我们的委员会结构和流程。我们目前正在与欧洲、澳大利亚和日本的新兴网络合作，将国际RDMM网络和注册中心连接起来，并实现跨境匹配。我们将继续创造有意义的合作，产生知识，并在本地和全球推进RD研究，以造福RD患者和家庭。
Advances in genomics have transformed our ability to identify the genetic causes of rare diseases (RDs), yet we have a limited understanding of the mechanistic roles of most genes in health and disease. When a novel RD gene is first discovered, there is minimal insight into its biological function, the pathogenic mechanisms of disease-causing variants, and how therapy might be approached. To address this gap, the Canadian Rare Diseases Models and Mechanisms (RDMM) Network was established to connect clinicians discovering new disease genes with Canadian scientists able to study equivalent genes and pathways in model organisms (MOs). The Network is built around a registry of more than 500 Canadian MO scientists, representing expertise for over 7,500 human genes. RDMM uses a committee process to identify and evaluate clinician-MO scientist collaborations and approve 25,000 Canadian dollars in catalyst funding. To date, we have made 85 clinician-MO scientist connections and funded 105 projects. These collaborations help confirm variant pathogenicity and unravel the molecular mechanisms of RD, and also test novel therapies and lead to long-term collaborations. To expand the impact and reach of this model, we made the RDMM Registry open-source, portable, and customizable, and we freely share our committee structures and processes. We are currently working with emerging networks in Europe, Australia, and Japan to link international RDMM networks and registries and enable matches across borders. We will continue to create meaningful collaborations, generate knowledge, and advance RD research locally and globally for the benefit of patients and families living with RD.