Birth defects occur in 1:33 births and account for 20% of infant deaths globally. However, despite their impact on health, our understanding of how the embryo normally develops, and how these processes are disrupted in disease, remains limited. Discovering the genetic and cellular mechanisms that regulate development is a critical step towards new treatments, improved patient prognosis, and informed genetic counselling for patients and their families.
Mutations in alkylglycerol monooxygenase (AGMO), an ether lipid processing enzyme, are increasingly associated with human birth defects, including craniofacial, cardiac and muscular abnormalities. We recently confirmed a role for agmo in vertebrate craniofacial and cardiac development and discovered that it is an unexpected and potent regulator of the canonical WNT signal pathway during embryogenesis. In this project, the successful student will use state of the art molecular tools and advanced imaging techniques to fully determine developmental requirements for agmo, as well as investigate its molecular function, and test patient mutations to assess their likely contribution to disease. Ultimately, this project will increase our knowledge of a fundamental but poorly understood process in cell and developmental biology, as well as generate clinically relevant insight into human disease.