BPAN is a rare genetic condition, but new families are continually being identified thanks to modern genomic sequencing technology.
Currently there are no drugs that can cure or even slow the progression of this devastating disorder, as little is known about its biology. Current treatments only aim to alleviate symptoms. There is a critical need for research to develop improved treatments and methods of intervention and prevention.
MCRI has developed a new research program using a patient’s own cells to understand how the faults in the WDR45 gene lead to BPAN, and test novel treatments that could one day be used in these same patients. These advances will improve long term health outcomes for this vulnerable group of children, and may potentially offer unprecedented and life changing opportunities for individuals and families affected by BPAN.
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Beta-propeller protein-associated neurodegeneration or BPAN is a devastating genetic condition, characterised by a progressive brain disorder. Children initially have developmental delay and seizures while young adults may experience cognitive decline, dementia and a movement disorder similar to Parkinson disease. BPAN is due to a fault (the technical name is mutation) in a gene called WDR45, which causes an accumulation of iron in the brain.
Until recently BPAN was considered an extremely rare disorder, with the majority of individuals affected by BPAN being female. However, it was likely often misdiagnosed in the clinic due to the nonspecific clinical features. The recent identification of WDR45 as the cause of the condition has meant that many new diagnoses are now being made. For example, Professor Martin Delatycki, Medical Director for the Victorian Clinical Genetics Service, who recently featured in an ABC News story about BPAN, has identified five children with BPAN in the last two years.
Traditionally, many conditions such as BPAN, presenting with intellectual and cognitive deficits have been viewed as “untreatable conditions”. Although it is now known that this is not always correct.
MCRI is developing a new research program to understand and treat BPAN. Using skin cells from individuals with BPAN, MCRI researchers will reprogram them using cutting-edge stem cell technologies to generate the exact type of nerve cells affected by the condition. This so-called ‘brain in a dish’ model allows direct testing of how BPAN affects the function of the brain and offers a way to rapidly screen large numbers of drugs for potential therapeutic benefit.
The research is being conducted by the Bruce Lefroy Centre, an outstanding genetics research unit within the MCRI. The Centre is led by Professor Martin Delatycki, a clinician researcher, and Associate Professor Paul Lockhart, a molecular biologist.
Critical for the success of this new research will be the linkages between foundation research and clinical research expertise, which facilitates discovery research and clinical translation.