Assessing mechanisms of brain malformation in SCN3A encephalopathy using stem cell-based models

使用干细胞模型评估 SCN3A 脑病的脑畸形机制

• 批准号: 10841993
• 负责人: ETHAN M GOLDBERG
• 金额: $ 0.82万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-07-01 至 2024-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10841993
• 关键词: Administrative Supplement; Affect; Award; Brain; Cell model; Development; Doctor of Philosophy; Education; Encephalopathies; Epilepsy; Female; Laboratories; Leadership; Learning; Medicine; Mentors; Mentorship; National Institute of Neurological Disorders and Stroke; Neurites; Neurodevelopmental Disorder; Neurons; Neurosciences; Parents; Procedures; Protocols documentation; Reproducibility; Research; Research Personnel; Role; Scientist; United States National Institutes of Health; Variant; Vietnamese; Work; brain malformation; career; experience; experimental study; induced pluripotent stem cell; meetings; migration; nerve stem cell; postnatal; skills; stem cell model; stem cell proliferation; symposium; undergraduate student

ABSTRACT This administrative supplement will be used to support the work of Ms. Sarah Pham, an undergraduate-level, female scientist of Vietnamese descent who is pursuing a career in the neurosciences. Under the leadership and mentoring of Dr. Ethan Goldberg (MD, PhD), Ms. Pham will conduct experiments related to the parent proposal titled entitled “Pathomechanisms of SCN3A-related neurodevelopmental disorder (NIH NINDS R01NS119977- 03). The R01 proposal explores the involvement of Nav1.3 to the excitability of early postnatal neurons and the role of Nav1.3 in brain development. Ms. Pham’s research will utilize and induced pluripotent stem cell-derived neural progenitor cell (NPC) model to explore how the SCNA3-I875T variant affects NPC proliferation, migration, and neurite outgrowth. Ms. Pham will have regular and ongoing mentorship, shadowing, and constructive input opportunities with Dr. Goldberg- a premiere clinician scientist leading pioneering discoveries in epilepsy research and treatment who has demonstrated experience mentoring and developing scientists from various diverse and under-represented backgrounds. She will author lab protocols, procedures, and work product of experiments conducted under this supplement all of which will be assessed by Dr. Goldberg and colleagues partnered with this lab. Ms. Pham will maintain an increasing level of independence as a researcher within the Goldberg lab through this administrative supplement period. She will attend lab meetings, educational seminars and conferences, and will have opportunities both to learn and to disseminate the findings of her research in through this supplement. This award will afford her the opportunity to develop skills in rigor and reproducibility that are critical skills to enable her further development and successful transition to a career in neuroscience.

抽象的 该行政补充文件将用于支持 Sarah Pham 女士的工作，她是一名本科生， 越南裔女科学家，在他的领导下从事神经科学事业。 在 Ethan Goldberg 博士（MD、PhD）的指导下，Pham 女士将进行与家长提案相关的实验 标题为“SCN3A 相关神经发育障碍的病理机制”（NIH NINDS R01NS119977- 03) R01 提案探讨了 Nav1.3 对出生后早期神经元兴奋性的影响以及 Pham 女士的研究将利用和诱导多能干细胞衍生的 Nav1.3 在大脑发育中的作用。 神经祖细胞 (NPC) 模型，探索 SCNA3-I875T 变异如何影响 NPC 增殖、迁移、 范女士将获得定期、持续的指导、跟踪和建设性意见。 与 Goldberg 博士合作的机会 - 一位在癫痫研究领域引领开创性发现的首席临床科学家 和治疗谁具有指导和培养来自不同领域的科学家的经验 她将撰写实验室方案、程序和实验工作产品。 在此补充下进行的所有这些都将由 Goldberg 博士及其合作伙伴进行评估 作为戈德堡实验室的研究人员，范女士将继续保持该实验室的独立性。 在这个行政补充期间，她将参加实验室会议、教育研讨会和 会议，并将有机会通过以下方式学习和传播她的研究成果 该补充将为她提供发展严谨性和可重复性技能的机会。 使她能够进一步发展并成功过渡到神经科学职业的关键技能。