Hope for a cure on Rare Disease Day

Fixing genes.

It sounds like science fiction, but it’s a breakthrough on the near horizon according to Dr Michel Tchan, head of genetic medicine at Westmead Hospital.

Speaking ahead of Rare Disease Day on 29 February, Michel said it is an exciting time to work in genetic medicine.

Rapid advances in genetic testing over recent years mean patients can now have their entire genome sequenced to diagnose genetic disorders, rather than only having specific genes examined.

“One of the most difficult things about having a rare disease is what we call the ‘diagnostic odyssey’, or the long journey from having symptoms to finding out the cause,” Michel said.

“Genome sequencing has helped to address this, and hopefully through increased awareness we can improve the journey for others.”

There are now specific treatments for many rare diseases, and the number is steadily growing.

The hope for the near future is that gene therapy will allow doctors to actually fix patients’ faulty genes rather than just treat the symptoms.

Michel’s work also involves screening family members for genetic mutations after diagnosing someone with a rare disease.

This is vital for conditions such as long QT syndrome, which can result in sudden death without any prior symptoms.

Michel hopes initiatives such as Rare Disease Day will help improve awareness and diagnosis.

“While each rare disease by nature does not affect many people, cumulatively there are up to two million people in Australia with some kind of rare disease. The phrase we use is ‘rare but common’,” he said.

“At Westmead Hospital we care for nearly 1000 patients with more than 500 different rare, genetic metabolic disorders which cause a wide range of symptoms.

“There have been major advances in the diagnostic space and I’m hopeful that we will be able to improve treatment and even cure these diseases in the not-too-distant future.”