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The University of Southampton


Sequencing the human genome (the entire human genetic code) is now possible due to next generation sequencing technology and for the first time enables us to challenge what constitutes normal genome variation across populations and what DNA variation predisposes to disease.

Human Genetics and Genomics Medicine group in Southampton tackles these questions from both ends.

Professor Karen Temple, is co-lead of the UK South Coast Genomics Medicine Centre. Through this she is offering patients with inherited disorders the opportunity to have complete genomics sequencing as part of the UK 100,000 Genomes project.This NHS transformation project is identifying a myriad of genomic variation among humans that requires research to deep dive into the discoveries to understand the significance for diagnosis and disease stratification.

Professor Diana Baralle, for example, is studying gene variation identified through the project that alters the RNA message through splicing errors.

Professor Sarah Ennis, is taking patients with one significant disease, Inflammatory Bowel Disease and using genomics to investigate the relationship between environment, the gut flora and the DNA sequence.Understanding mechanisms predisposing to disease enables a chance at prevention.

Dr. Deborah Mackay, studies the origin of epigenetic variation (molecules that interact with DNA) and how it affects genome function. For example, she has identified new genes in the mother that effect the makeup of the oocyte that then alters the early development of the unborn child through epigenetic aberrations. These mechanisms are a cause of disorders of growth and development called Imprinting syndromes.

Professor Andrew Collins, on the other hand analyses normal genetic variation between populations to understand normal DNA architecture. It enables him to identify variations of medical consequence, especially in cancer.

There is an active education program for undergraduate and postgraduate students e.g. Professor Diana Baralle leads the Southampton Genomics Medicine MSc.

Public understanding of the genomics program is led by Dr. Catherine Mercer, the NIHR Health Education genomics lead for Wessex and involves Café Science events, school talks, public science meetings and displays around hospitals.

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