A Resource for Mouse Models of Peripheral Neuropathy

周围神经病变小鼠模型的资源

基本信息

批准号：
9333448
负责人：
Robert W Burgess
金额：
$ 30.48万
依托单位：
JACKSON LABORATORY
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-09-01 至 2020-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9333448
关键词：
Age of Onset Alzheimer&apos s Disease Animal Model Biological Biological Assay Charcot-Marie-Tooth Disease Clinical Clinical Trials Collection Communities Complement Cryopreservation Custom Data Deposition Development Disease Disease model Ensure Failure Fees Gene Mutation Genes Genetic Genetic Models Goals Human Human Genetics Human Genome Incidence Inherited Institution Knowledge Lead Legal Lesion Licensing Life Longevity Mendelian disorder Modeling Motor Motor Neurons Mus Mutation Neurologic Neuromuscular Diseases Online Systems Onset of illness Pathology Pathway interactions Patients Peer Review Peripheral Peripheral Nervous System Diseases Phenotype Pre-Clinical Model Preclinical Testing Preventive treatment Protocols documentation Publications Reproducibility Research Research Design Research Infrastructure Research Personnel Resources Science Sensory Severities Standardization Supportive care The Jackson Laboratory Time Work axonal degeneration base clinically relevant cost curative treatments design disability experience genetic resource genome editing improved model development mouse model phenotypic data pre-clinical precision genetics preclinical study preclinical trial repository research clinical testing sex success therapeutic evaluation tool

项目摘要

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.

患有遗传性周围神经病（例如腓骨肌萎缩症（CMT））的患者可以获得终身支持护理，但目前尚无治疗方法或治愈方法。此类治疗的进展缓慢，部分原因是可用于开展可能产生新治疗方法的研究的动物模型太少。目前识别新 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 疾病基因座，包括至少 60 个基因，其中大多数尚无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) 创建周围神经病研究资源 (RRPN)。 JAX-RRPN (www.jax.org/rrpn) 是一项协调一致、社区驱动的工作，利用了世界领先的小鼠遗传学知识、最先进的基因组编辑能力以及数十年的疾病模型开发经验以及有效疾病模型库的经验，以加速 CMT 研究的高优先级小鼠模型的创建、分发和正确使用。