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

Children'S Hosp Of Philadelphia, Philadelphia PA

Investigators

Linked publications, trials & patents

Abstract

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.