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The University of Southampton

New insights into improved health through genetics

The University of Southampton’s 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 ensured our researchers are at the forefront of the application of genetic technology to the understanding of human health.

impact of genetics on health

Southampton academic in this field includes 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 the 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’ chromosome has 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; this work 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’s projects, including Professor Karen Temple’s research into the genetic causes of transient neonatal diabetes has led to changes in the treatment for new born babies with diabetes. She is also recognized for her identification of a number of syndromes caused by genetic imprinting abnormalities.

Our researchers have also made a link between genes and blood cancer. A study showed that susceptibility to a series of blood cancers, known as mycloproliferative 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 the field of research includes strong links with Wessex Regional Genetics Laboratory, an NHS genetics and genomics centre which hosts much of the University’s genetic research. It is based at the Salisbury Health Care NHS Foundation Trust.

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