The Biology of Neural Tube Defects: From Prevention Efforts to Stem Cell Therapeutics

Richard H. Finnell holds the William T. Butler, M.D. Distinguished Chair in the Center for Precision Environmental Health at Baylor College of Medicine.  Dr. Finnell has academic appointments in the Department of Molecular and Cell Biology, the Department of Molecular and Human Genetics, and in the Department of Medicine at Baylor College of Medicine.  A pediatric geneticist, he has had a distinguished career researching environmentally induced birth defects.  His early work with murine embryonic stem cells established the dire embryonic consequences of folate deficiency during embryonic development. This work takes advantage of his training as a pediatric geneticist, as well as a background grounded in developmental and molecular biology and teratology. The Finnell laboratory uses the latest genome editing approaches to create novel transgenic mouse models and to dissect out critical events during embryonic development that result in structural birth defects. During his 40⁺-year career, he has authored over 380 peer-reviewed publications in journals such as Science, Nature Genetics, Nature Cell Biology, PNAS and Developmental Cell.  The current focus of the laboratory is to utilize gene-editing approaches in stem cells to treat complex congenital malformations and unique genetic defects in the one carbon metabolic pathway.  The laboratory is also utilizing amniotic fluid derived stem cells and exosomes to administer in utero to mutant FKBP8 mice with spina bifida to mitigate the adverse consequences of this disorder. His ongoing research efforts are funded by multiple grants from the US National Institutes of Health.