A Resource for Mouse Models of Peripheral Neuropathy

患有遗传性周围神经病变的患者，如腓骨肌萎缩症（CMT），可获得终身支持治疗，但目前尚无治疗方法或治愈方法。这种治疗方法的进展缓慢，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，发现新的CMT疾病基因/突变的速度超过了开发适当模型的速度。目前约有80个人类CMT疾病位点，包括至少60个基因，其中大多数尚未建立相关的临床相关动物模型。为了解决这个问题，我们建议在杰克逊实验室（JAX）创建周围神经病变研究资源（RRPN）。JAX-RRPN （www.jax.org/rrpn）是一项协调的、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，加速创建、分发和正确使用用于CMT研究的高优先级小鼠模型。

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.