Novel forms of adult genetic white matter disorders: clinical-radiological phenotyping and identification of causal genes.

成人遗传性白质疾病的新形式：临床放射学表型和致病基因的鉴定。

• 批准号: 488945
• 负责人: La Piana Roberta
• 金额: $ 51.55万
• 依托单位: Montreal Neurological Institute-Hospital
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2023
• 资助国家: 加拿大
• 起止时间: 2023-09-01 至 2028-09-01
• 项目状态: 未结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=488945&lang=en
• 关键词: Gene Discovery; Leukodystrophies; Mri; Next Generation Sequencing; Rare Diseases; White Matter Diseases

This research project has the goal to identify new forms of hereditary diseases of the brain white matter. The white matter is made of myelin, an insulating material covering nerves and neurons and thus allowing the electrical conduction throughout the c

该研究项目的目标是确定大脑白色物质遗传性疾病的新形式。这白色物质是由髓磷脂组成的，髓磷脂是一种覆盖神经和神经元的绝缘材料，因此可以使整个脑组织进行电传导。