
Lee Niswander, PhD
Principal Investigator

The Niswander lab investigates novel mouse models of embryonic development with the overarching goal of providing insights into fundamental developmental processes, major human birth defects and potential clinical therapies. Her studies over the years have provided a unique perspective on the molecular mechanisms that control the formation of the central and peripheral nervous system, as well as lung, limb, and neuromuscular development. The current focus of the lab is on the common and severe birth defect wherein the neural tube (NT) fails to close resulting in neural tube defects (NTDs) such as spina bifida. Using a combination of genetic, molecular, biochemical and cell biological assays they have identified numerous genes involved in NT closure and determined their mechanisms of action. Niswander’s lab also developed innovative methods for time-lapse imaging of the living mammalian embryo to couple molecular insights to the regulation of cell behaviors that drive NT closure. Environmental factors clearly influence human NTD risk, and her lab uses mouse models to explore gene-environment interactions that influence NTD incidence.
Facts about neural tube defects:
- Neural tube defects are the occur in 1/1000
births worldwide (Zaganjor et. al., 2016)
- The two most common birth defects
are anencephaly and spina bifida
​
- Over 200 mutations have been associated
with neural tube defects in the mouse model
https://sbseqconsortium.org/

