During the past two decades we have witnessed great technical advances in the analysis of DNA and the completion of the Human Genome Project. These advances have facilitated the discovery of many Mendelian disease-related genes and contributed to a better understanding of the molecular basis of single gene disorders. In fact, such discoveries coupled to careful phenotyping have led to the reclassification of several diseases on molecular grounds.
Gene silencing through DNA methylation involved in genomic imprinting is an example of epigenetic regulation of gene activity. Epigenetic regulation underpins normal development from the fertilised egg to an embryo. It remains to be determined the role of genetic variations and epigenetic regulation in multifactorial disorders such as diabetes, heart disease and cancer. Adult health depends on a complex interaction between inheritance, nutrition and the physical and social environment throughout prenatal development and childhood.
This section focuses on disease gene discovery, the architecture of the genome, inheritance patterns and the regulation of gene expression.