Dr. Trainor discusses the genetic and molecular approaches his lab uses to study two human birth defects — Treacher Collins syndrome and Hirschsprung disease — in animal models of the human disorders.
It is possible to selectively mark proteins produced by cells with fluorescent molecules, which allows researchers to track these proteins, as well as the cells that carry them, and study their activity in development. In this image of a zebrafish embryo 36 hours post fertilization, scientists are able to track neural crest cells by tagging a protein exclusively produced by this cell type (sox10, green). They also look at proliferating cells by tagging a protein only made by cells undergoing cell division (phospho-histone H3, red). Finally, the DNA of every cell is stained blue, revealing the cell nuclei. By combining these different elements of observation, scientists can test their hypotheses and draw conclusions.
This video explains briefly why animal models are instrumental for human health research.
Dr. Paul Trainor and his lab study a population of cells called neural crest cells. During the early stages of vertebrate development, these cells migrate in the embryo – sometimes over very long distances – and become many different cell types. Abnormal neural crest cell development or migration can result in birth defects that affect tissues such as the intestinal tract or the head and face.
One of the aims of the Trainor Lab is to determine more precisely how neural crest cells develop and migrate, and to understand how particular genes and molecules affect these processes. Using animal model systems that mimic human diseases, the Trainor Lab gains insight to uncover possible avenues for treatment and prevention of human ailments involving neural crest cells such as Treacher Collins syndrome and Hirschsprung disease.
The cartilage elements of the jaw (stained in blue) are smaller (hypoplastic) in the Treacher Collins model animals. The smaller lower jaw, called micrognathia, in the zebrafish model mimics one of the features of Treacher Collins syndrome in humans.