Through AI, medical professionals can make faster, more accurate medical decisions – especially in areas like medical imaging, genomics, and patient monitoring.
AI has completely revolutionised healthcare. It has improved diagnostics, made treatment plans more personalised, sped up drug delivery and optimised hospital operations. Through AI, medical professionals can make faster, more accurate medical decisions – especially in areas like medical imaging, genomics, and patient monitoring.
One area that’s proving itself to be increasingly vital into the innovation of healthcare is how AI, using machine learning and large language models (or LLMs), can identify patterns in genetic datasets to identify and diagnose genetic disorders – including heart disease. This could lead to doctors being able to predict rare diseases long before symptoms appear.
It’s potentially life-saving work – and the focus of a cutting-edge project led by the BioMedical Machine Learning Team at UNSW Biomedical Engineering School, in collaboration with NSW Health and Sydney Children’s Hospital.
Genetic disorders pose significant diagnostic challenges, due to their complex genetic and phenotypic characteristics. The CLinAI Initiative, led by UNSW Scientia Senior Lecturer Dr. Hamid Alinejad Rokny, is working to change that.
The project uses advanced AI and LLM to process and analyse vast amounts of genetic, clinical and even phenotypic data, revealing genetic markers linked to diseases. This gives doctors the ability to intervene early and personalise treatments for patients who need it most.
“We’re not just diagnosing conditions faster; we’re diagnosing them better,” says Dr. Rokny. “AI and LLMs allow us to find patterns in data that were previously invisible, giving us a whole new way to tackle rare and complex heart diseases.”
Cardiovascular diseases can be unpredictable – and early, accurate diagnosis could mean the difference between life and death. The AI-driven platform developed by the CLinAI team is designed to cut diagnostic times by 80% and reduce healthcare costs by 70%. This means faster treatments, fewer hospital visits, and better outcomes for patients and their families.
“I can’t imagine the relief this will bring to so many people,” says Prof. Nigel Lovell, the Head of UNSW Biomedical Engineering School. “The earlier we catch these conditions, the more we can do to prevent severe complications down the line.”
What makes this initiative truly special is the global collaboration driving it forward. UNSW is working alongside partners like NSW Health (Professor Tony Roscioli), Chinese Academy of Sciences, and Thailand Genomics Service to push the boundaries of AI and LLMs in healthcare, benefiting patients both in Australia and overseas.
“By working together, we’re making sure that these innovations aren’t just theoretical—they’re making a real-world difference,” Dr. Rokny explains.
As the CLinAI Initiative continues to evolve, the team envision a future where AI and large language models don’t just assist in diagnosing diseases – but helping to predict them. Revolutionising healthcare as we know it.
“We’re on the cusp of a new era in medicine,” says Dr. Reza Argha, the CLinAI’s team member. “This is just the beginning.”
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