Primordial dwarfism is a rare genetic condition in which growth is restricted before birth and remains restricted through life. Mutations in CENPJ can cause the condition in both humans and mice, but the route from a centrosomal protein to whole-body growth was not straightforward.
My research examined how the mutation changed cell division in embryonic tissue. The work focused on cell-cycle timing and on a population of cells that took substantially longer than normal to complete mitosis. Studying that delay offered a way to connect a molecular defect with impaired growth.
The broader scientific interest was the relationship between the mechanisms that constrain growth and those that become dysregulated in cancer. It was a formative project: close observation, careful quantification and a willingness to move between scales—from protein, to cell, to organism.
The project received the Max A. Barrett Prize for the best project in Cancer and Genetic Disease from the University of Cambridge Department of Pathology.