Abstract for presentation at 11th International Congress of Human Genetics

In 1948 JBS Haldane suggested that the high frequency of thalassaemia in the Mediterranean population might reflect heterozygote advantage against malaria. Although his suggestion took many years to investigate, considerable progress has now been made in the study of genetic variability and response to infection. It is now firmly established that the extraordinarily high frequency of thalassaemia and related red cell disorders is related to past or present malaria infection. And at least some progress has been made in defining the cellular mechanisms involved. More recently, there have also been major advances in understanding the genetic variability in response to many other infections. It is now clear that exposure to overwhelming infection has had a remarkable effect on the genetic make-up of many of the world’s populations. Furthermore, it is becoming clear that, as well as its evolutionary interest, this field may have potential for helping to evolve new strategies for the control and treatment of infectious disease.