Emily Stokes has a rare autoimmune disease successfully treated by new Canberra clinical genomics centre

Seemingly out of nowhere, Emily Stokes woke up one day unable to move.

She had come down with a mysterious rash the day before, but there were no other warning signs of her debilitating condition.

"Some mornings I can't talk, I can't eat," she said.

"I couldn't do anything for myself, you don't realise how much you need your hands until you can't use them."

The then 16-year-old's symptoms only got worse and her condition perplexed every doctor she saw.

Emily Stokes, pictured with her four-week-old daughter, Charlie Lang, has a rare autoimmune disease and has been successfully treated by new Canberra clinical genomics centre.  Photo: Karleen Minney

Emily Stokes, pictured with her four-week-old daughter, Charlie Lang, has a rare autoimmune disease and has been successfully treated by new Canberra clinical genomics centre. Photo: Karleen Minney

Treatments that provided some relief often came with nasty side effects, others were only effective for a short time.

Last year Canberra scientists at the Centre for Personalised Immunology were able to fully sequence her genome.

Doctors then pinpointed the gene causing her condition and tailor the most effective treatment.

Ms Stokes, now 20, was diagnosed with the incredibly rare Yao syndrome, an autoinflammatory disease of which there are fewer than 100 documented cases in the world.

Her and partner Jordan Lang were never sure if her condition would allow them to have children. So they regard the recent arrival of daughter Charlie as nothing short of a miracle.

"These treatments have been life changing," Ms Stokes said.

"We trialled every drug under the sun before."

The Centre for Personalised Immunology, co-directed by professors Matthew Cook and Carola Vinuesa, helps people living with immune-related diseases by providing a personalised diagnosis - using their genetic sequences - to find more effective treatments for their condition.

It was launched in 2014 and its work was made possible by rapid progress throughout the 21st century towards understanding the human genetic code.

Scientists decoded the human genome for the first time at the turn of the century thanks to a worldwide effort spanning decades.

However it has been possible only recently, through further technical developments, for this information to be applied to individual patients.

Professor Cook said genome sequencing so far had the greatest impact on people with rare disorders based on a single abnormality, allowing doctors to work out the mechanism of the disorder and find an effective treatment.

Emily Stokes was never sure if her condition would allow her to have children, so regards the arrival of daughter Charlie as nothing short of a miracle. Photo: Karleen Minney

Emily Stokes was never sure if her condition would allow her to have children, so regards the arrival of daughter Charlie as nothing short of a miracle. Photo: Karleen Minney

The treatments make use of drugs that target a single molecule in the body called precision medicine.

"Before we could sequence individuals, all doctors could do was to make an educated guess about which gene may have gone wrong and sequence that gene," he said.

He said before Ms Stokes' genome was sequenced, they had no choice but to guess what drugs might be effective through a series of trials.

"It's tremendously rewarding. All clinicians are trying to do the best for their patients and sometimes we're limited by the diagnostic tests and treatments we have available," he said.

"That's why genomics promises this sort of transformation, suddenly we can manage conditions we could not before.

"The ultimate aim is to continue on this transition to precision therapy where we can make a diagnosis according to the mechanism that's gone wrong and then give the patient a treatment that targets that particular pathway."

While there are now a number of centres that have the capacity to sequence an individual's genome, their discovery centre is unique for its ability to introduce a genetic variation into a mouse model or human cell line.

This allows them to find out if the isolated mutation is responsible for an individual's condition.

The centre has led to the opening of Canberra Clinical Genomics last year, which allows more patients to have access to the treatments.

"It's a very complicated task to sequence someone's genome, we all have about 20,000 genes and our genome consists of three billion bases," Professor Cook said.

"We had set up a lot of infrastructure in order to do that, then we suggested to ACT health that we could capitalise on all of this work to develop a clinical service."