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Focus On Genetics

Focus On Genetics also features articles on: Genetics in Medicine, the Wales Gene Park, The "Impossible" breakthrough, Stopping the cancer "clock", Getting to grips with depression and Facing moral dilemmas. Use the navigation on the left to browse this Focus On.

The enemy within: hunting the genes that kill


The human genome is the basic genetic recipe for every person on the planet. The completion of the genome’s sequencing at the start of the 21st century brings with it the prospect of cures for a host of hereditary diseases. Cardiff University is at the forefront of this science, pinpointing the genetic mechanisms behind cancers, Huntington’s Disease, mental breakdown, and much more. University researchers have developed tests for many conditions which are now offered to patients in the National Health Service (NHS) and around the world. Now researchers are looking to the next stage - developing treatments which for the first time allow us to fight back against the dangers lying inside our own DNA.


The Institute of Medical Genetics

The Institute of Medical Genetics, based at the School of Medicine, has provided a focus for Cardiff’s activity in the genetic field. The Institute combines the talents of geneticists from medical, psychological and social science backgrounds.

The Institute is established as a world leader in the field of tumour development. Its research identified the gene mutations leading to the disorder tuberous sclerosis, which makes tumours grow throughout the body. Having worked out the functions of the genes, researchers identified a drug called Rapamycin, found in a rare fungus on Easter Island, that could replace the action of the faulty gene.

Trials in patients are now underway in several UK centres, led and coordinated by the Institute of Medical Genetics and representing one of the first therapies to result from the Human Genome Project.

Brain cell transplantation is another innovative treatment being assessed at the Institute. Since identifying the Huntington’s Disease gene, researchers have been studying the disease processes that cause involuntary movements, psychological problems and dementia in patients with this devastating inherited disorder. Now, in an exciting clinical trial, genetically unaffected cells are being transplanted directly into the affected areas of the brain in people suffering from Huntington’s disease.

Scientists at the Institute are acutely aware of the ethical issues that surround human genetics research and its translation to clinical practice. They have undertaken research to look at how these issues impact on patients and their families. They have helped to inform and develop policy in areas including genetic testing in childhood, insurance, screening for cystic fibrosis, muscular dystrophy and inherited forms of cancer.

As well as being the academic focus for genetic research in Wales the Institute is also the hub of the NHS Medical Genetics Service for Wales. Close working between the researchers and the NHS has brought about many improvements in clinical and laboratory genetics and often influences not only national but international practice.

Research funding is strong, with more than 100 research grants currently held at the Institute, which plays the lead role in The Wales Gene Park.

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