Rare Disease Day

A ‘rare disease’ is surprisingly hard to define. The European Union states a rare disease affects less than one in 2000 people, while America prefers an incidence statistic of one in 200,000. What is clear is that more than 6000 known rare diseases affect almost two million Australians, half of which are children. Eighty per cent of rare diseases have genetic origins and can sometimes occur in families without any history of the disease.

School of Biomedical Science Associate Professor Michael Piper answers some questions about his research on rare diseases.

Why does research into rare diseases matter? Can your findings help people with more common diseases too?

My lab’s research aims to understand the fundamental mechanisms that control brain development. One of the challenges involved in rare disease research is funding. Rare disease research is often ignored due to the small number of patients with these disorders. But for people who have rare diseases, their family and their friends, these diseases are just as important as any other. For example, in the case of Malan syndrome, basic research into the mechanisms controlling neural development can be immensely beneficial for understanding a wide range of other developmental disorders, such as macrocephaly (large head size), microcephaly (small head size) and autism. 

What is Malan syndrome?

Malan syndrome is an very rare disease, affecting about one in every million people. It causes something called macrocephaly, where the head is significantly larger than normal. As well as intellectual disability, these patients exhibit overgrowth and developmental delay. Patients with Malan syndrome have an abnormal version of one copy of a gene known as NFIX. Our research has been focussed on understanding how mutations to NFIX result in larger head size. We have shown that the neural stem cells which form the brain persist for a longer period during development in patients with Malan syndrome, producing a larger brain. We are now working towards understanding why neural stem cells need NFIX to develop appropriately.

Why did you become a rare disease researcher?

I have been interested in developmental biology throughout my career. I love the challenge of understanding how the generation of complex organisms like ourselves is orchestrated developmentally from such simple beginnings. In the last three to four years I have been using this knowledge to try and understand the biology behind neurodevelopmental disorders, including rare diseases responsible for causing macrocephaly (larger head size). Macrocephaly often arises due to abnormal neural stem cell biology during development, and is frequently associated with intellectual disability.

What motivates you to keep researching rare diseases?

Being a scientist is an incredible privilege, and I love the challenge of asking different questions every day. It is also wonderful working with, and training, the next generation of young, enthusiastic Australian scientists. I hope that basic, fundamental research in Australia receives more support in the future, so that the scientific community can use this understanding of development to understand rare diseases like Malan syndrome.

Associate Professor Michael Piper also heads the Neural stem cells in development and disease lab.

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