Why is the Human Developmental Biology Resource needed?
Basic knowledge about human development
Scientists' understanding of the growth and development of many organisms has increased significantly in recent years. Research has identified many of the genes controlling these processes and their functions. A diverse range of species has been studied, with particular focus on the nematode worm, fruit fly, zebrafish, frog and mouse. A striking feature of the studies has been the similarities between the genes controlling development in these species.
There are, however, significant morphological differences between species during early development. The publication of the human genome sequence provides an inventory of all human genes but the gargantuan task remains of explaining their function. Studies into which genes are turned on and off during embryogenesis provide valuable clues to gene function. However, if we are to understand human development more fully, it is necessary to study human tissue directly. Insights from comparative genomic analyses have identified human-specific sequences generating great interest in the molecular basis of "what makes us human". Comparative expression and functional analyses will be a powerful means of advancing this molecular characterisation.
Studies in these vital areas of research have been limited by the scarcity of the necessary human developmental tissue. Using material from the HDBR, researchers can carry out human developmental studies that will help us understand how a single fertilised egg is transformed into a fully functional human being. This is one of biology's greatest challenges.
Clinical benefits
The HDBR will help researchers shed light on a large number of distressing medical disorders. Birth defects taken as a whole are the biggest cause of infant mortality in the Western world. Currently one in 30 babies is born with a significant malformation but the causes of many of these malformations are poorly understood. Studying human development during the period when most malformations arise will be an important step towards understanding, and perhaps eventually preventing, fetal abnormality. Furthermore, adult diseases often have their origins during development or involve a reactivation of developmental mechanisms.
The clinical benefits of research into early human development are many. For example, it is known that the incidence of spina bifida in babies can be reduced if mothers are given folic acid supplementation in early pregnancy. Studies are beginning to explain this by showing how early developmental processes are related to folic acid metabolism.