Tasmanian-born Elizabeth Blackburn, a professor of biology and physiology at the University of California, was presented with the award at the American Society for Human Genetics meeting in New Orleans on Tuesday.
“Elizabeth Blackburn has transformed our understanding of how cells age and die,” Peter Gruber, chairman of the Peter Gruber Foundation, said in a statement. “And she has acted as a true citizen scientist, working to ensure that public debate on the impact of science on society is well informed and grounded in fact.”
Ms Blackburn will receive a US$250,000 (A$336,283) cash prize.
The foundation explained in a statement that her work in the 1970s showed how DNA is copied and protected as cells divide and grow.
A small DNA cap known as a telomere protects the ends of chromosomes from damage. Ms Blackburn and her team discovered telomerase, and enzyme that repairs telomeres and demonstrated its role in normal cells, cancer cells and ageing. They found that telomerase effectively keeps DNA young.
Ms Blackburn and her University of California colleagues also showed that low telomerase in white blood cells was associated with the risk factors for cardiovascular disease.
Mr Gruber also acknowledged Ms Blackburn's fight against the “politicisation of science”.
In 2001 she was appointed to President George W Bush’s Council on Bioethics only to be dismissed in 2004 over her insistence that the council’s reports should incorporate the best possible scientific information, the statement said.
Ms Blackburn earned her Bachelor of Science degree at the University of Melbourne.
She studied at the University of Cambridge in Britain and researched molecular and cellular biology at Yale in the US. She was named Californian Scientist of the Year in 1999.
She holds joint Australian and US citizenship.