Genetics and human health

With a broad research programme ranging from the study of single gene disorders to the way molecular genetics can contribute to the diagnosis and treatment of cancer, our researchers are at the forefront of the application of genetic technology to the understanding of human health.

Southampton academics in this field include a pioneer in the study of human genetics, Professor Patricia Jacobs. As a cytogeneticist, Patricia's work seeks to understand hereditary diseases and conditions by studying the structural and numerical abnormalities of chromosomes. Patricia and the endocrinologist John Strong were the first scientists to discover an extra chromosome in humans, specifically the 47,XXY constitution in males with Klinefelter Syndrome.

This additional genetic material results in, among other things, tall stature and infertility. The discovery was groundbreaking not only because it identified the cause of these patients' clinical phenotype, but because it was one of the earliest pieces of evidence that the Y chromosome is responsible for 'maleness' - until that point it was widely believed that only the X chromosomes had a role in determining a person's sex.

Since then Patricia has made a succession of important contributions which have fostered a fundamental understanding of the role of chromosome abnormalities and their relationship to human health, work which has had a direct impact on patient care.

Understanding of the link between our genes and our health has been advanced by a range of Southampton projects including Professor Karen Temple's work on the characterisation of childhood developmental disorders. Karen's research into the genetic causes of transient neonatal diabetes has led to changes in the treatment for newborn babies with diabetes. She is also recognised for her identification of a number of syndromes caused by genetic imprinting abnormalities.

Southampton researchers have also made a link between genes and blood cancers. A study showed that susceptibility to a series of blood cancers, known as myeloproliferative disorders, is linked to a particular area of the patient's DNA, which is prone to developing mutations. This is an important step forward as it helps scientists to understand why some people might be predisposed to acquiring genetic mutations that lead to cancers.

Southampton's collaborative approach in this field of research includes strong links with Wessex Genetics, an NHS genetics and genomics laboratory which hosts much of the University's genetics research.