Genetic disorder treatment has wider possibilities

Stephen Robertson
Stephen Robertson
The advanced genomic tools used by a University of Otago paediatric geneticist to make world-leading discoveries on rare genetic disorders could also help improve the treatment of more common medical conditions.

Prof Stephen Robertson, the university's Cure Kids professor of paediatric genetics, said genetic diversity among patients was an important factor in mainstream treatment, as well as in dealing with rare conditions.

He and his team at the clinical genetics group have gained an international reputation for genetic detective work involving single-gene disorders in children, particularly on the development of the skeleton and the brain.

But there was also a significant genetic component in the different way individual patients responded to drugs given to them to treat more common conditions, such as high blood pressure.

Sometimes patients could embark on a lengthy treatment ''odyssey'' before the best treatment was reached, he said in an interview.

If further funding was invested by government, in future savings could be made by determining the patient's likely response to such medications in advance.

''Our health system could really benefit from this,'' he added in an interview.

Recently Prof Robertson had a research paper published in the American Journal of Human Genetics, describing his team's discovery of the cause of a rare condition that results in the fusion of bones in the spine and limbs.

DNA samples from 16 children from throughout the world were sent to his laboratory at the Otago Medical School.

Researchers used genome sequencing to find the culpable gene mutated in the disorder, Recessive Spondylocarpotarsal Synostosis Syndrome.

By finding the gene responsible, we ''open up a lot of options both diagnostic and perhaps even therapeutic, to help these families'', he said.

In other research, published in the journal PLoS Genetics in May, his research team took part in a worldwide collaboration using new genome sequencing technologies.

The researchers found a new gene for a rare neurological disorder, characterised by malformations of specific structures in the brain, and called periventricular nodular heterotopia.

The Dunedin team sequenced 65 separate families with this condition and then pooled their data and results with a wider international team to make the new finding after analysing more than 200 families with the condition.

This activity showed that ''genomically-informed medicine'' had arrived, and could lead to ''more accurate, earlier and more efficient diagnoses for children'', he said.


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