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

摘要 这一行政补充将用于支持Sarah Pham女士的工作，她是一名本科生， 越南裔女科学家，从事神经科学研究。在领导和 Pham女士将在Ethan Goldberg博士（医学博士、博士）的指导下进行与母提案相关的实验 标题为“与SCN 3A相关的神经发育障碍的病理机制”（NIH NINDS R 01 NS 119977- 03）。R 01的提案探讨了Nav1.3对出生后早期神经元兴奋性的影响， Nav1.3在大脑发育中的作用Pham女士的研究将利用诱导多能干细胞衍生的 神经祖细胞（NPC）模型，以探索SCNA 3-I875 T变体如何影响NPC增殖，迁移， 和神经突生长范女士将定期和持续的指导，影子，和建设性的投入 机会与戈德堡博士-一个首屈一指的临床科学家领先的开创性发现，在癫痫研究 和治疗谁已经证明经验指导和发展科学家从各种不同的， 代表性不足的背景。她将撰写实验室协议、程序和实验的工作产品 所有这些都将由Goldberg博士及其同事进行评估， 这个实验室作为戈德堡实验室的研究员，范女士将保持越来越高的独立性 在这段行政补充期间。她将参加实验室会议，教育研讨会， 会议，并将有机会学习和传播她的研究成果，通过 这个补充。这个奖项将为她提供机会，发展技能的严谨性和可重复性， 关键技能，使她能够进一步发展和成功过渡到神经科学的职业生涯。

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.