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Search: radio tv shop news sport local children science environment more topics help abc radio national the science show program home past programs galleries podcasts and feeds about us contact us actin gene causes congenital myopathy download audio show transcript broadcast: saturday 18 july 2009 12:43pm (view full episode) congenital myopathy covers a range of rare lethal diseases. They affect muscle fibres. Babies born with congenital myopathy are often born paralysed. Kristen nowak and nigel laing at the university of western australia traced mutations in the actin gene as the cause. They describe how the project began and how their work has produced results which may lead to a cure. Facebook twitter delicious reddit digg what are these? Transcript robyn williams: the floppy baby story also began in south australia. It's a story about genes and babies and long-term detective work. Meet kristen nowak and professor nigel laing from the university of western australia. Nigel laing: our work with this group of diseases, the congenital myopathies, actually started with a large family from south australia. The real beginning of all this was walking down alice spring's high street with eric haan who is the chief clinical geneticist in south australia, and he said, 'nigel, we have this family in south australia with ten living affected people. Are you interested in working with this family? ' and of course ten is the magic number, and that family was big enough to track down. So that's where we started from. http://nationalityinworldhistory.net/bsh-buy-viagra-on-the-internet-xd/ generic viagra online viagra for sale cheap viagra viagra online viagra for sale http://howtosmudge.com/pjn-viagra-buying-di/ buy cheap viagra viagra online nationalityinworldhistory.net/bsh-buying-generic-viagra-ap/ And in 1995 we tracked that gene down to being a mutation in tropomyosin which is one of the proteins of the thin filament in your muscle fibres. Robyn williams: okay, so it affects muscle. In what way? Nigel laing: children are born affected, and in the most severe form they can be born almost completely paralysed. And then there is a spectrum of severity through to adult forms. So nemaline myopathy can come on at any time from in utero to being an adult. It was always known that it was genetic and the question was how to track down the genes, and that first big family from south australia basically unlocked the disease. Robyn williams: how did the family respond to being under your microscope? Nigel laing: the family was very keen to be involved and it all went very smoothly. Robyn williams: with these genetic clues, kristen, how did you get involved? Kristen nowak: i started with nigel doing some work experience and he was brave enough to take me on as a research assistant to start with, and i found that he was so dedicated to the families that we were researching. We were studying dna samples from patients and families all around the world. Robyn williams: when you say 'work experience', do you mean when you were at school, you were just wanting to know what it was like in a lab? Kristen nowak: no, i actually had already graduated, i'd done my bachelor of biotechnology and then honours. But i do remember thinking.
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