For patients living with a rare disease, the journey to get an accurate diagnosis, let alone treatment, is often long and expensive.
Now, Murdoch University researchers are offering hope to people living with these debilitating conditions, and their families, thanks to new developments in treatments.
Perth patients were able to hear first-hand from researchers from the University’s Centre for Molecular Medicine and Innovative Therapeutics who are working hard to ensure no rare disease patient gets left behind, and that safe and effective treatment is available.
The researchers showcased their exciting developments at a public forum hosted at Murdoch University.
Senior Research Fellow Dr May Aung-Htut said patients, as well as those interested in molecular medicine, are always welcome to attend community conversations that delve into the therapy treatments being developed at the Centre.
“The discussion was designed for people with rare disease, care-givers and the general community to learn about the personalised treatments we’re developing, what these medicines can and cannot do, and what are the challenges,” she said.
Although 90% of rare diseases still have no treatment, the forum was an opportunity to showcase to the community our exciting progress, and a chance for those affected to talk about their needs to researchers directly.”
Attendees heard about the prominent research coming out of the Centre that is going towards changing lives for the better.
“Eighty per cent of rare disease cases are attributed to genetics, and of these, 20 per cent of them affect how gene messages are processed,” Dr Aung-Htut said.
To target the defective mRNA molecule, we have been developing ribonucleic acid (RNA) medication to reduce errors.”
To date, the team has delivered three US Food and Drug Administration (FDA) approved mRNA treatments for Duchenne muscular dystrophy (DMD) – a debilitating disease that causes muscle wasting.
“The disease stems from mutations in the dystrophin gene, and the mRNA medication tricks cells into skipping, and masking the defective part of the gene, slowing disease progression by delaying the loss of muscle function,” Dr Aung-Htut said.
Initial development of this treatment was conducted by researchers at Perth’s Perron Institute who are now based at CMMIT, and so far only approved in America.
Additionally, the technology will also be used to combat common chronic conditions or infection.
“For patients with a rare genetic disorder, these targeted, accelerated treatments will not only improve their life, it will greatly improve the quality of life of caregivers and families,” Dr Aung-Htut said.
In Australia, a disease is considered rare if it affects fewer than 5 in 10,000 people. Examples of rare conditions include spinal muscular atrophy, Pompe disease and cystic fibrosis.
Learn more about the important work of the Centre for Molecular Medicine and Innovative Therapeutics.