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Genetics in medicine

Professor Julian Sampson

Professor Julian Sampson, School of Medicine, became interested in the potential of genetics in medicine over two decades ago while involved in the treatment of children with cancer. "It was clear that changes in genes — sometimes inherited, sometimes occurring out of the blue — were causing the initiation and growth of tumours in these patients" he says. "I became interested in the part genetics has to play in determining health and disease."

Since then Professor Sampson has identified genes that cause a range of diseases from bowel cancer to kidney failure and has developed accurate diagnostic tests for them.

Now he is exploring the use of novel treatments that replace the action of the damaged genes using drugs.

The Wales Gene Park, which Professor Sampson chairs, was established to translate new genetic knowledge into better healthcare and to help NHS staff and the public understanding so that these advances are applied in a responsible way.