ABSTRACT
Genetics is a rapidly advancing and fascinating field of medicine, which has particular relevance in paediatrics. Increasingly, medical genetics is becoming central to our understanding of many diseases, and not just rare disorders. Genetic screening is the search in a population for individuals possessing certain genotypes that: Are known to be associated with disease or predisposition to disease, or May lead to disease in their offspring. Gene therapy is the treatment of genetic disease via genetic alteration of the genome of cells of individuals with a genetic disease. Although this is an exciting area which may in the future provide treatment for genetic disorders, success to date has been limited. The gene is the basic unit of inheritance. Humans are estimated to have around 30 000 structural genes, i.e. that code for proteins. Genes are made of deoxyribonucleic acid (DNA) and are organized within chromosomes in the cell.
