Unraveling the molecular basis of novel forms of hypomyelinating leukodystrophies

揭示新型髓鞘形成性脑白质营养不良的分子基础

• 批准号: 408747
• 负责人: Bernard Geneviève
• 金额: $ 81.09万
• 依托单位: Research Institute of the McGill University Health Centre
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2019
• 资助国家: 加拿大
• 起止时间: 2019-09-01 至 2024-09-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=408747&lang=en
• 关键词: Eprs1-Related Leukodystrophy; Gene Discovery; Hypomyelinating Leukodystrophies; Induced Pluripotent Stem Cells; Myelination Studies; Next Generation Sequencing; Oligodendrocyte Progenitor Cells / Oligodendrocytes; Polr3-Related Leukodystrophy; Proteomics

Leukodystrophies are a group of genetic diseases affecting previously healthy children, leading to progressive disabilities and death over months to years. Unfortunately, no curative treatment is available for most of these children, a situation only exac

脑白质营养不良是一组遗传性疾病，影响以前健康的儿童，导致进行性残疾和死亡数月至数年。不幸的是，这些儿童中的大多数没有治愈性治疗，这种情况只会发生在儿童身上。