''YOU'VE got to have a go'' if you want to make a difference, is businessman Bill Moss's motto, and it has paid off.
Medical research that he helped fund into an untreatable muscle-wasting disease from which he and many others suffer has come up trumps. It has revealed that a defect in gene regulation - one never seen before in a human disease - leads to this common form of muscular dystrophy known as facioscapulohumeral dystrophy.
The discovery not only gives hope to people with the hereditary crippling condition but it may also have an impact on research on other genetic diseases, such as cancer and diabetes.
Four years ago, Mr Moss, a former Macquarie Bank executive director, established a charitable research foundation, FSHD Global, which partly funded the Italian researchers who made the breakthrough.
Until then, there had been no government money in Australia, and very little overseas, for studying the poorly diagnosed disease, which may affect as many as one in 7500 people and which leads to a weakening of the muscles in the face, shoulders and limbs.
Mr Moss, who has difficulty walking, said he was proud that donations to the Australian foundation had supported the discovery. ''It is great news. You can change the world. But if you don't try, you never will,'' he told the Herald.
Scientists had known since 1992 that the disease was linked to a reduced number of specific, repeated units of DNA on chromosome 4. It was assumed this defect switched off genes, preventing protein production.
Researchers led by Davide Gabellini, however, showed the opposite was true: sufferers had an excess of protein production.
Dr Gabellini, of the San Raffaele Scientific Institute in Milan, and his colleagues have now determined the unusual mechanism responsible for this effect.
Their results are published in the journal Cell.
They found that loss of the repeated units leads to production of a specific piece of RNA genetic material that allows genes to become hyperactive. Blocking production of the RNA led to normal gene function, making it a target for drug development. Dr Gabellini said repeated units of DNA are found near genes linked to other diseases, such as diabetes. ''There is a good chance that alterations in other repetitive sequences in our genome are responsible for bad gene regulation in other diseases.''
The foundation has supported 17 research projects in Australia and around the world.