29/02/24 - The initial development of a novel drug treatment for children living with rare genetic diseases including Angelman syndrome has been supported by a Channel 7 Telethon Trust grant.
World Rare Disease Day is Thursday 29 February 2024.
The research focuses on three imprinting disorders (congenital conditions) associated with faulty genes on chromosome 15: Angelman syndrome (AS), Prader-Willi syndrome (PWS) and 15q11-q13 duplication syndrome (dup15q).
Affected children can experience developmental delays, impaired balance, seizures, difficulty with feeding, swallowing and speech, cognitive and behavioural impairment, autism spectrum disorder, and life-threatening obesity. The symptoms can be seen as early as six months.
There are no drug treatment options that target these currently incurable genetic neurological diseases. The research aims to develop novel treatments for these disorders using antisense oligonucleotides (gene patching technology) to correct gene expression.
A common factor identified for the three disorders could be an inappropriate level of an enzyme encoded by the UBE3A gene which maintains the balance of protein levels in neurons. If these levels in UBE3A are too high or too low it can lead to AS, dup15q and part of PWS.
The goal of this project is to develop antisense drugs to correct the protein level of UBE3A in the brain and potentially treat neurological problems in affected children and improve their quality of life. The proposed antisense therapies bring hope to children with chromosome 15 disorders and their families.
The Principal Investigator of this work is Dr ChiPang (Andrew) Tai, a Postdoctoral Research Fellow at the Perron Institute and The University of Western Australia (UWA). He will lead the drug development to specifically target chromosome 15 imprinting disorders.
“A friend of mine has a son with Angelman syndrome, and I hope that I can help them and others living with a rare condition in some way,” Dr Tai said. “Ideally with a potential treatment, and also with raising awareness.”
Co-Investigators are Professor Minghao Zheng (head of the Bone and Brain Research group at the Perron Institute and UWA), Professor Steve Wilton AO and Dr May Aung-Htut (co-leads of the Molecular Therapy Laboratory at the Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University and Perron Institute).
Dr Tai’s team has a history of pioneering antisense oligonucleotide drugs, including three treatments for Duchenne muscular dystrophy, approved by the United States Food and Drug Administration.
This Telethon grant will enable the team to produce sufficient research data for further drug development.
The project will access and test patient samples from the Australian Chromosome 15 Disorders Biobank, established by the Prader-Willi Research Foundation Australia, the Foundation for Angelman Syndrome Therapeutics, and Associate Professor David Godler and Professor David Amor at Murdoch Children's Research Institute.
Dr Andrew Tai at the Perron Institute