A Resource for Mouse Models of Peripheral Neuropathy

患有遗传性周围神经疾病的患者，如夏科-玛丽-图斯病(CMT)，可以提供终身支持性护理，但目前还没有治疗或治愈的方法。此类治疗的进展缓慢，部分原因是可用于进行可能导致新治疗方法的研究的动物模型太少。目前，识别新的CMT疾病基因/突变的速度超过了开发适当模型的速度。目前大约有80个人类CMT病基因座，包括至少60个基因，其中大多数还没有与临床相关的动物模型。为了解决这个问题，我们建议在杰克逊实验室(JAX)建立外周神经病研究资源(RRPN)。JAX-RRPN(www.jax.org/rrpn)是一个协调的、社区驱动的努力，利用世界领先的小鼠遗传学知识、最先进的基因组编辑能力、数十年的疾病模型开发经验和有效的疾病模型库经验，加速CMT研究的高优先级小鼠模型的创建、分发和正确使用。

Patients with inherited peripheral neuropathies, such as Charcot-Marie-Tooth disease (CMT), are provided life-long supportive care, but there are currently no treatments or cures. Progress toward such treatments is slow due, in part, to the fact that there are too few animal models available to conduct research that could lead to new treatments. The rate at which new CMT disease genes/mutations are identified currently exceeds the rate at which appropriate models can be developed. There are now ~80 human CMT disease loci, including at least 60 genes, and most of these do not yet have an associated clinically-relevant animal model. To remedy this problem we propose the creation of The Resource for Research of Peripheral Neuropathy (RRPN) at The Jackson Laboratory (JAX). The JAX-RRPN (www.jax.org/rrpn) is a coordinated, community-driven effort that leverages a world-leading knowledge of mouse genetics, state-of-the-art genome editing capability, decades of experience in disease model development and experience with effective disease model repositories, to accelerate the creation, distribution and proper use of high-priority mouse models for CMT research.