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Researchers identify gene mutation in child with rare disease

ANGUS Bond has just had his 100th blood transfusion due to a disease found in just five children of every million births.

However, breakthrough genetic mapping at SA Pathology — the first laboratory in Australia to be accredited for full genetic mapping — has just pinpointed the gene mutation causing his condition, giving new hope for future genetic therapy to treat the disease.

The seven-year-old Aldgate boy was diagnosed with Diamond Blackfan Anemia eight weeks after he was born in Singapore. It is a rare bone marrow failure disorder where the body does not produce enough red blood cells to move oxygen around the body.

Angus’s parents, Jessica and Jeff, sister Molly, 12 and brother Ted, 10 are not suitable matches for a bone marrow donation, and even the difficult thought of having another child in the hope of a match was fraught with extremely long odds of being a perfect match.

A rare tissue type within Angus’ bone marrow means no suitable donor from elsewhere has been found.

Without a successful transplant or tailored genetic treatment, Angus must face several hundred blood transfusions before he turns 20 — the same amount of blood in 50 men — while his body struggles to deal with the foreign blood.

The condition can be life-threatening and there is no known cure. Treatment consists of regular blood transfusions, coupled with drugs to remove the build-up of iron in the body caused by the disease.

As revealed in The Advertiser yesterday, full genetic mapping is now available at SA Pathology. Professor Hamish Scott, of the Department of Genetics and Molecular Pathology, said it holds hope of cutting years off complex diagnoses as well as tailoring genetic treatment to individuals as mutations causing rare conditions are identified.

For Angus’s mum, the revelation of the mutation opens the door to hope of a cure.

“It has just been incredible that they have been able to find the mutation — for a long time, we have been in the dark,” Mrs Bond said.

“Ultimately, it may lead to potential gene therapy to fix it, although we are a long way off that point just yet. This gives us a huge measure of hope.”

Angus’ parents have not been idle while hoping for a cure — after returning to Adelaide in 2010 from working in Singapore then Canada, they set up the Captain Courageous Foundation which has raised more than $2 million for research into bone marrow failure diseases.

“The research program is a collaborative effort between institutes in five states who all share information which is vital if we are going to find a treatment,” Mrs Bond said.

“Angus is our own Captain Courageous — he has to go to the Women’s and Children’s Hospital every three months for a transfusion but he loves to play outside and has a quirky sense of humour — he is always making his big sister Molly and big brother Ted laugh out loud.”

 

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