Dr Laura Croft, 25 February, 2025
Every year on the last day of February, people around the world come together to recognise Rare Disease Day, raising awareness and advocating for people living with rare diseases and their families.
Jump to:
- Why rare diseases matter
- What can this research achieve?
- Collaboration with families
- Why choose QUT for rare disease research?
- Research for students
Rare diseases, as the term suggests, affect only a small percentage of the population. Due to their low prevalence, pharmaceutical companies and researchers often overlook these diseases, leaving affected individuals and their families without viable treatment options.
We talk to Dr Laura Croft, a researcher determined to change this reality for a specific genetic mutation.
Laura’s research
“I am currently working on a project investigating if a natural compound could be developed into a treatment option for an extremely rare neurodevelopmental disorder caused by mutation in the SLC6A1 gene.”
What is the SLC6A1 gene?
Think of the SLC6A1 gene as a gatekeeper that helps the brain stay calm and work well. If it’s not working correctly, it could lead to issues like seizures, movement problems, and learning difficulties.
“In addition to this project, I am also working towards enabling access to advanced RNA therapeutics development for Queensland children with extremely rare, life-limiting conditions caused by single-gene mutations.”
“In some cases, a technology called antisense oligonucleotides (ASOs) can be designed to correct these mutations directly addressing the root cause of the disease, rather than managing the symptoms as current treatments do.”
How do ASOs work?
To put it simply, ASOs attach themselves to faulty RNA molecules in cells to block or modify the faulty genetic instructions, helping to treat genetic diseases at their source.
Why rare diseases matter
Diseases with fewer than a thousand known cases worldwide make them almost invisible in the eyes of traditional drug development companies. The cost of developing treatments for such a small population is often deemed too high in comparison to the potential market.
“Patients who are often young children with ultra-rare diseases are left without treatment because traditional drug development models fail them, despite the existence of ASOs and other genetic based therapies.”
“I chose this field of research because I believe that no person should be denied treatment simply because their condition is rare.”
What can this research achieve?
The ultimate goal of this research is to advance treatment options for patients affected with rare single-gene mutations. One key focus is to determine if a natural compound could become a viable, low-cost treatment for the SLC6A1 neurodevelopmental disorder.
“I also hope to implement personalised treatment development using ASO technology for ultra-rare disease patients in Australia, just as they have been in the USA and Europe. By doing so, I aim to bridge the gap between existing medical advancements and the lack of treatment options for rare disease patients.”
Collaboration with families
One of the most powerful aspects of this project is the partnership with an Australian family whose child has the SLC6A1 mutation. This project itself was co-designed with the child’s father, when he came across a study showing how a natural compound could increase SLC6A1 levels in zebrafish brains.
“This experience has been deeply meaningful on many levels – not only scientifically but also personally. Connecting with the people we are trying to help brings a profound sense of purpose. Hearing their story, witnessing their child’s suffering and decline, and understanding the enormous burden they carry has reinforced the urgency of this work.”
Why choose QUT for rare disease research?
“QUT has a strong reputation in biomedical innovation, translational research and precision medicine. The Centre for Genomics and Personalised Health conducts cutting-edge research and has expertise in genomic medicine, RNA therapeutics, and personalised healthcare, making it an ideal place to conduct my research.”
“I also have access to state-of-the-art laboratories and genomic sequencing technologies, which are crucial for conducting my work. QUT has strong partnerships with hospitals and government agencies, which can accelerate clinical implementation of my research.”
Research for students
This Rare Disease Day, it’s important to recognise the impact rare diseases have on the lives of those affected. Laura’s innovative research shows that there is hope on the horizon. There are endless opportunities to make a difference if you are considering a health course at university, whether you are looking at an undergraduate or postgraduate course.
Students interested in working alongside researchers can undertake a paid project for approximately 6-10 weeks under the Vacation Research Experience Scheme (VRES). This allows you to contribute to a real research project, and decide if a research career is for you.
To read about what our other researchers are working on across QUT, head over to our Real Focus blog.
