BPAN
Beta propeller associated neurodegeneration (BPAN) is a rare genetic condition that damages the nervous system and affects a child’s development.
When a child’s nervous system is damaged, it can mean they are slow to develop certain skills and may never develop others. Many children with BPAN never walk or talk.
BPAN can cause recurring seizures (epilepsy), intellectual disability and difficulty coordinating movements.
BPAN is a progressive condition, meaning it gradually gets worse. As children get older they begin to decline, with hard-won skills and milestones such as sitting up, eating or swallowing being lost. Children with BPAN also have a reduced lifespan.
In most cases, BPAN is not an inherited condition. It is caused by a random change (mutation) in a gene called WDR45.
There are no treatments that can cure the condition or slow its progression so there is a critical need for research.
Who does it affect?
Who does it affect?
- Less than 500 people have been diagnosed worldwide, including more than 10 people in Australia.
- People diagnosed with BPAN in Australia range from toddlers to a 36-year-old.
- BPAN mostly affects females. But boys can be affected and two boys have been diagnosed in Australia.
- The number of children being detected with the condition is rising steadily mainly because it has become easier to do gene testing and more doctors are ordering genetic tests for it.
Our BPAN research
Our BPAN research
Our previous research involved using laboratory-grown human nerve cells to try to understand how faults in the WDR45 gene cause BPAN. This research was conducted to test potential treatments.
Using cutting-edge technologies, we reprogrammed skin or blood cells from children with BPAN to become the nerve cell types affected by the condition.
This ‘brain in a dish’ model allowed us directly test how BPAN affects brain cell function. It has provided us with a method to quickly test drugs in the future to see if they could be effective treatments.
Current treatments only aim to alleviate symptoms but there are no drugs that can cure the condition or slow its progression.
There is a critical need for additional research to understand the disease and identify and develop new treatments. Research advances in this field aim to improve long-term health outcomes for this vulnerable group of children and deepen our knowledge about a range of different but related rare genetic diseases.
Impacts of our research
Impacts of our research
- In 2019 we launched the first BPAN project in Australia and one of only a few worldwide. The project investigated the cause of BPAN and searched for potential treatments.
- BPAN stems from a fault in the WDR45 gene and results in a build-up of iron in the brain. This build-up is thought to contribute to the condition. The study focused on iron accumulation, one area considered to be a very strong prospect for a cure. Our researchers included those with experience investigating brain degeneration brought about by iron.
- The project was funded by several generous donors including David and Edwina Hunter whose son Angus has BPAN and who have raised more than $400,000 for BPAN research.
- A previous Australian study found that about one in three people with rare genetic conditions waited more than five years for a diagnosis, a similar number saw more than six doctors before a diagnosis and half had at least one incorrect diagnosis. Our gene testing facilities and expertise now enable much faster diagnosis for people with BPAN.
- Advances in genetic testing also mean children who in the past were diagnosed with an unknown developmental disorder can now be given a definitive BPAN diagnosis.
Our vision
Our vision
We are working towards a treatment breakthrough to slow progression and possibly cure this devastating condition. We hope it offers unprecedented and life-changing opportunities for individuals and families affected by BPAN.
Where to next?
Where to next?
Our research aims to understand how a fault in the WDR45 gene can cause such a devastating neurodevelopmental condition. This knowledge will enable testing of therapies in model systems and then clinical trials for benefit to affected individuals and families.
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