They found about 25 per cent of cases could be diagnosed straight away
A GROUP of scientists says a breakthrough in gene technology offers fresh hope to people suffering from some potentially fatal genetic conditions.
The team based at the Murdoch Children’s Research Institute in Melbourne and the Broad Institute in the United States recently performed a trial of gene sequencing technology to identify mitochondrial diseases and other genetic conditions.
Mitochondrial diseases affect the way the body converts food into energy and arises after human mitochondria, which provide the energy cells needs to be active, become dysfunctional.
In Australia, about one child every week will be born with a mitochondrial illness and about half of them will die.
Lead researcher Professor David Thorburn said the ability to diagnose some of the most complicated genetic disorders will greatly increase over the next few years.
“New next-generation DNA sequencing technologies are transforming the way we do research on inherited diseases,” Professor Thorburn said in a statement.
“However, it remains a real challenge to transfer these approaches from a research tool into methods that can be used efficiently by doctors trying to sort out if a patient’s disease is due to a genetic condition.”
He said the development would make it easier for people who suffer from a mitochondrial disease, as well as their families.
“Although not successful in every child, this new technology is a big advance that will allow us to speed up diagnosis for families to end their diagnostic odyssey,” he said.
“It should mean that within the next few years we can diagnose most children with suspected mitochondrial disease within a month using just a blood sample, instead of needing a muscle biopsy and taking months or years.”
The team believes its approach will also work for conditions such as epilepsy, deafness and some forms of heart disease.
The scientists examined 42 people with mitochondrial disorders and sequenced the DNA of their mitochondrial genes.
They found about 25 per cent of cases could be diagnosed straight away.
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