Role for ion conducting proteins in cortical malformation diseases

离子传导蛋白在皮质畸形疾病中的作用

• 批准号: 10435714
• 负责人: Richard S Smith
• 金额: $ 9.21万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-06-22 至 2022-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10435714
• 关键词: Area; Biological Assay; Brain; Brain Diseases; Cell physiology; Cerebral Palsy; Cerebral cortex; Cerebrum; Cortical Malformation; Development; Diagnosis; Disease; Epilepsy; Functional disorder; Gene Mutation; Goals; Health; Human; Individual; Ion Channel; Ions; Nature; Organoids; Physiological; Plant Roots; Proteins; Research; Role; Speech; Testing; Work; disease phenotype; genetic testing; improved; innovation; malformation; mouse model; newborn neuron; novel; pressure; stem cells

K99 Admin Supplement Project Summary The idea that ion channels can disrupt cortex formation is a new area of study, particularly when exploring the mechanisms activated at a cellular level. Since dividing progenitor cells and newborn neurons in the developing cerebral cortex rely on ions for controlling cellular processes, I will test the new hypothesis that disrupted activity of specific ion fluxes is critical to cortex assembly. Proof of the existence of developmental channelopathies in the brain has remained elusive due to the heterogenous nature of cortical malformations and the fact that they are often are under extreme negative pressure evolutionarily. Given that I am describing and categorizing brain disorders that improve our understanding of disease mechanisms and the treatment of conditions related to malformation of cortical development (MCD), the significance of this work to human research will immediately improve health is immediate as the results generated by this genetic testing for diagnosed disorders. I will complete this research with a combination of both proven and innovative strategies, including: Aim 1) Completed (K99 Aim 1, year 1) Aim 2) Characterizing a novel mouse model for a developmental channelopathy; Aim 3) Development of a novel physiological assay in developing human cerebral organoids.

K99管理补充项目总结