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

摘要 这一行政副刊将用于支持本科生Sarah Pham女士的工作， 越南裔女科学家，从事神经科学研究。在他的领导下 在Ethan Goldberg博士(医学博士)的指导下，Pham女士将进行与家长提案相关的实验 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参与，以及 Nav1.3在脑发育中的作用。范女士的研究将利用和诱导多潜能干细胞来源 神经祖细胞(NPC)模型探讨SCNA3-I875T变异如何影响NPC的增殖、迁移和 和轴突生长。范女士将得到定期和持续的指导、跟踪和建设性的意见 与Goldberg博士的机会-一位领先的临床科学家领导癫痫研究的开创性发现 和治疗，他有丰富的经验，指导和培养来自各种不同和 代表不足的背景。她将编写实验室方案、程序和实验的工作成果 在本补编下进行，所有这些都将由Goldberg博士和同事与 这个实验室。作为戈德堡实验室的一名研究人员，范女士将保持越来越高的独立性 通过这一行政补充期。她将参加实验室会议、教育研讨会和 她将有机会学习和传播她的研究成果，通过 这份副刊。这一奖项将使她有机会发展严谨和可重复性方面的技能，这些技能 使她能够进一步发展并成功过渡到神经科学职业生涯的关键技能。

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.