Written by Janine MacDonald Friday, 26 October 2007 10:25
A STORY told by her year 10 biology teacher whose siblings had died of dwarfism set Kristen Nowak on her path to genetic research.
“(The teacher) drew up her family tree on the blackboard and explained that her family had a particular genetic disease, a lethal form of dwarfism which had caused five or six of her siblings to die at an early age,” she said.
“I can remember being touched by this and finding it a very sad story, yet also fascinating.
“My teacher then explained that it was possible to detect a defective gene that had caused so many of her brothers’ and sisters’ deaths – and this could be done by looking at DNA.”
Dr Nowak’s world-first discoveries into the genetics of actin-caused muscle diseases have helped to make Perth the leading international reference centre assisting families with accurate diagnosis. Dr Nowak is dedicated to finding a therapy for patients with these diseases.
She completed a PhD at The University of Western Australia on the genetics of “floppy baby” syndrome, which often claims the lives of its infant victims within a year of birth, and other inherited muscle diseases such as muscular dystrophy.
Named Young Western Australian of the Year, Science and Technology in 2001, she was awarded a National Health and Medical Research Council grant to study at Oxford University where she began her research into a therapy for floppy baby syndrome.
When she identified the first defect in the gene called “skeletal muscle actin’”– one of the two major genes that make the muscles contract - and saw it on the computer screen, she was astounded.
“It was an amazing feeling – knowing that we were the first people to see this. No one else in the world had ever seen a defect in this fundamentally important gene before.”
“The DNA we were looking at was from a young baby who had passed away from a devastating muscle disease, so it was extremely rewarding to know that we had uncovered the cause of this baby’s death and that we could give its family some valuable answers.”
The discovery lead to many different defects in this gene being identified and gave her work international renown.
Although she is a researcher she has met some families of people affected by these genetic defects.
“Being able to help a family by pinpointing the gene and defect causing their genetic disease – giving them answers as to why their children had been born paralysed – is enormously gratifying and rewarding because it usually means a great deal to them,” she said.
“Spending time with families always refreshes my inspiration and determination to do my best to help find a cure for these diseases.”
“All the families I have met have such courage and optimism despite being faced with these devastating diseases – they truly are inspirational.”
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