Leading research into novel therapies for rare diseases

In support of Rare Diseases Day 2025, Luminesce Alliance Partner, the Sydney Children’s Hospitals Network, interviewed Professor Adam Jaffe, Head of the Respiratory Department at Randwick Children’s Hospital, about his latest research paper on the use of personalised (precision) medicine for treatment of people living with very rare diseases. You can find the original interview on LinkedIn. 

Professor Adam Jaffe has co-led a research paper that analyses the challenges in bringing personalised therapies from the laboratory bench to the patient’s bedside. Only 5% of people with a rare disease have access to a treatment, and even when one exists, delivering it remains a challenge, as it must be personalised to them.

“Personalised medicine cannot go down the traditional path that other drugs do. Normally, drugs are tested in a large number of patients in clinical trials before being approved to use in a clinic. But if there’s only one person with the rare disease, how do we test it for potential risks and its safety?”

The research paper defines a framework of what this personalised therapy pathway might look like and how it might be implemented into the healthcare system. While there is no definitive answer, it does highlight the important questions and ideas to help get there.

“We are living in a fascinating time in medicine,” he explained, “where we are seeing the success of discovering and developing personalised therapies for those living with rare diseases. While these therapies are promising, they’re often very hard to implement into practice.” “What we need to do is bring together doctors, scientists and healthcare workers with government regulatory bodies, with community members, patients and their families, educating each other on what a path forward might look like.”

Our Sydney Children’s Hospitals Network – Kids Research have been instrumental in leading research into novel therapies for rare diseases as well as giving families their say in how we implement such therapies into clinical practice.

“Our patients and families play a significant role. We need to listen to their voices and be driven by their voices.

And as we continue to research and help those living with a rare disease, we get closer to a future where personalised therapies can be delivered to those patients in our care without delay.”

For more information:

• View research paper The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap published in the Nature Reviews Drug Discovery journal
• Find out more about Luminesce Alliance latest rare disease research and resources