In Perspective

By David Chao, PhD, President and CEO

Each year, approximately four million babies are born with birth defects severe enough to cause disability or death. Although birth defects can manifest themselves in a myriad of ways, they all arise from a flaw in the normal development process.

“Development” is the term used by biologists to describe the carefully balanced and highly choreographed process that generates trillions of cells and coordinates their interactions to form tissues, organs and, ultimately, the entire human body. Any disruption of normal development by genetic abnormalities, infectious pathogens, or environmental influences can result in a birth defect.

Much of the Institute’s research focuses on answering fundamental questions about the development process. Our scientists use a variety of approaches in diverse settings in their quest for answers. Some of the stories in this issue of the Stowers Report describe the application of different approaches in yeast, birds, fish, and mice to understand the basic processes of development applicable to all organisms. By learning more about how different genes guide development and how the process can go awry, scientists are building an intellectual foundation for generating new strategies to prevent or treat specific birth defects.

This issue’s cover story describes work on neural crest cells, an important group of cells involved in a startlingly diverse array of common birth defects. Neural crest cells are formed when early stage cells are pinched off during the formation of the neural cord. Soon afterwards in development, neural crest cells fan out along migratory pathways to numerous destinations throughout the body. There they contribute to a surprising diversity of specialized cells and tissues. Researcher Paul Kulesa and his lab develop and use sophisticated imaging technologies to track and study individual neural crest cells as they migrate. In a complementary approach, researcher Paul Trainor and his lab use mouse mutants to understand the mechanisms by which specific mutations lead to defects in neural crest cells.

In another area, researcher Jennifer Gerton and her team study the various functions of cohesins, ring-shaped protein complexes that help organize the DNA in cells. Mutations in cohesins and related proteins lead to a class of related birth defects called cohesinopathies. The Gerton laboratory’s careful mechanistic studies of two cohesinopathies have laid the foundation for the long-term development of new therapies to treat these conditions.

I hope you enjoy reading these stories of fundamental discovery and scientific detective work. The breadth and depth of these research programs serve as concrete and inspiring examples of Jim and Virginia Stowers’ vision of improving human health through basic research.