Sandell Lab Research
Vitamin A metabolism: How does it happen? Why does an embryo need it?
The goal of research in the Sandell lab is to understand the causes of birth defects, with particular emphasis on identifying how perturbations of Vitamin A metabolism may contribute to congenital abnormalities. We use mouse as a model system to identify genetic loci that can cause or contribute to congenital defects in heart, limb, and craniofacial structures. We have determined that the enzyme RDH10 is required for balanced homeostatic metabolism of Vitamin A into its active form retinoic acid. We also seek to understand how the process of Vitamin A metabolism may interact with other genetic and environmental factors to cause embryonic abnormalities. Such information could alter genetic counseling and treatment approaches for inherited birth defects and could be used to guide clinical therapeutic interventions aimed at preventing or ameliorating congenital abnormalities.