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AUTISM, GENES
absorption spectroscopy in the early 1960s, but was a key member of the team that turned it into an internationally indispensable medical research technique.
The atomic absorption technique was pioneered by a group of Australian scientists led by physicist Sir Alan Walsh, and quickly became a bedrock of modern analytical chemistry.
Brian’s instruments calculate the exact amount of an element in patient samples – usually a biological metal like zinc, copper or iron.
Flashback to Australia in the 1960s with its agriculture-reliant economy. When sheep grazing on molybdenum-rich pasture were found to be copper deficient, their weight and wool quality were compromised and farmers were worried. Our famous Australian merino sheep were suddenly growing short, curly and weak wool.
At the same time, the head of research at the Royal Children’s Hospital, Dr David Danks, was treating a young baby with fine, silky hair who presented with developmental and neurological defects. Dr Danks immediately identified the baby as having Menkes syndrome – a known condition with an unknown cause.
One afternoon, Dr Danks was having lunch with a mate, Dr Mort Gillespie, from the CSIRO’s wool division. Dr Gillespie described the problem he was having with the fine, silky, weak wool in copper-deficient sheep. Dr Danks raced back to the hospital and spoke to Brian who was making the first measurements of trace metals in patient samples.
Brian showed that the child’s copper levels were critically low in blood samples, but were off the charts in a gut biopsy. This suggested that Menkes disease was due to copper being unavailable for use by the body, as it was trapped in the gut lining.
Absorption spectroscopy had proved its worth in the clinic, and its future as a medical research technique was assured.
These days Brian has a particular interest in zinc levels in patients with Alzheimer's disease.
In a key and novel finding, Florey researchers have found that serum zinc is low in Alzheimer’s patients. So, are people with Alzheimer’s zinc deficient, or is zinc just difficult to measure?
Brian has developed a method to quantify micro amounts of zinc and, with his colleagues, will soon compare results from stored patient samples from a number of combined studies, which together comprise one of the biggest collections in the world.
Brian says, “I still love coming in to work and being surrounded by these young, enthusiastic, and extremely bright young minds. I’m glad to contribute to our knowledge of the disease processes causing Alzheimer’s and other neurodegenerative conditions.”
The head of the metalloproteomics group, Dr Blaine Roberts, is grateful for Brian’s depth of understanding. “To have someone who was instrumental in developing one of our central technologies is an enormously valuable resource. There is nothing that Brian can’t tell you about measuring metals. If we have a problem, it’s extremely likely Brian has ‘been there, done that’. He’s also a great example that age is no barrier.”
Brian is content with his daily routine and plans to continue making his way in to the Florey, enriching us with his experience, wisdom and gentle humour.