Finding the answer in Isa’s genes

04 August 2014
Isa's Story

Little Isa Al Boush is one of only two children in the world with a particularly unusual form of a mitochondrial respiratory chain disorder, complex III deficiency. Using sophisticated gene sequencing techniques, researchers at Kids Research Institute discovered a new gene which causes his disorder.

Isa was just five months old when he first got sick. He developed a fever and within minutes was dangerously ill.

Transferred from his local hospital to The Children’s Hospital at Westmead, Isa spent 10 days in intensive care. Doctors thought he had a metabolic disorder, but they could not diagnose it accurately.

When he relapsed a few months later, a biopsy was taken from his liver and muscle and the samples were sent to laboratories in Melbourne for specialised testing. It confirmed him to have complex III deficiency, which results in a severe problem in his ability to make enough energy for his body’s needs, especially when he becomes unwell even with the most trivial of viral infections.

New technology has considerably accelerated the process of gene discovery. New techniques mean a child’s entire genome can be sequenced in a matter of weeks, and at a fraction of the cost that the process took a decade ago.

That’s leading to the discovery of new genes responsible for rare diseases. While the conditions may not be curable right now, it means families can receive genetic counselling or have IVF to prevent the condition when they have another baby.

“What it means is we now will have the capacity to identify this in other children with a similar clinical picture,” says Director of the Western Sydney Genetics Research Program, Professor John Christodoulou.

“We are now in a position to offer much more accurate genetic information to the family and hopefully prevent recurrence.  Importantly, now that we have a clear idea of what we are dealing with, we are in a much better position to get in early and prevent Isa from becoming desperately ill, hopefully minimising the number of hospital admissions that he will need to endure.”

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