A leading Australian scientist says geneticists are on the cusp of a revolution which will enable science and medicine to look at individual DNA and tailor treatments for common cancers.

His comments follow the case of a Melbourne father with no medical experience who helped uncover his one-year-old son's rare disease.

Risk management specialist Stephen Damiani refused to accept that nothing could be done for his son Massimo when the toddler's nervous system collapsed from an unknown cause.

In the space of three months, Massimo lost the ability to crawl, talk or sit without losing his balance.

Doctors told Mr Damiani and his wife Sally to "take him home and enjoy him".

"It was a double whammy of you're going to lose your son, we can't tell you why, and you can't have other children because the same thing might happen again," Mr Damiani said.

Mr Damiani set out to find the reason behind his son's illness, with the ultimate goal of finding a cure.

The medical community advised him that Massimo's condition was probably genetic, but the gene at fault remained a mystery.

Through a chance meeting, Mr Damiani teamed up with young Queensland genetic scientist Dr Ryan Taft.

Together they found the gene responsible for Massimo's disease and pioneered a new and more efficient way to find any rare or mysterious illness.

The discovery has been hailed around the world and written up in the the American Journal of Human Genetics.

Overcoming the odds... (L to R) Stephen Damiani and son Massimo with Leo, mum Sally and Marco. ( Max Walker )

Professor hails progress in genetic science

Professor Brandon Wainwright, Director of the Institute of Molecular Bioscience at the University of Queensland, says the fields of medicine and science are on the cusp of a revolution.

"We have to be very careful not to over-promise. But the progress over the last three years is absolutely mind-bending," he said.

"As the technology advances you have you have to learn how to deal with this avalanche of new information and that's where people like Ryan Taft come in."

Assistant Professor Adeline Vanderver, of the Children's National Medical Centre in Washington, also praised Dr Taft for his contribution.

"Ryan Taft applies bioinformatics or computers to huge amounts of data to permit us to better understand common diseases," she said.

"It's likely that diseases like diabetes, cancer, cardiovascular risk are all genetically mediated to some degree.

"It's like finding a needle in a haystack and if you don't know what gene you're looking for, you couldn't get an answer.

"Now you've blown the haystack to pieces and the needle is right there."

Dr Ryan Taft teamed with Stephen Damiani to help find the cause of Massimo's illness. ( Max Walker )

Massimo's doctors now able to trial different treatments

The discovery of Massimo's disease has brought about the end of the Damiani family's isolation.

To date, 12 other children across the world have been found with the same mutation in the DARS gene responsible for Massimo's condition.

It has also given the Damiani family more certainty of their son's prognosis.

"What we've also seen is a glimpse into the future," Mr Damiani said.

"Many of these children are in their teens, they present differently to Massimo.

"Many of them can talk, many of them are intellectually age appropriate and gifted."

The breakthrough has also allowed Massimo's doctors to begin trialling different treatments being practiced by other doctors caring for children who are now known to also suffer Massimo's disease.

"We've just started Massimo on a steroid-based therapy and the initial signs are very positive," Mr Damiani said.

Ms Damiani says her son is doing well.

"It was like first we were fighting a war and we didn't know who the enemy was," she said.

"Now we know who the enemy is and now we're actually starting to build up a bit of an army.

"Mo has come an incredibly long way since when we first started.

"He's regained some of the skills he lost originally, he's now at his local kindergarten and absolutely loving it."