A severe genetic disorder known as Angelman syndrome (AS) is one of three rare conditions targeted in WA research receiving support from the Channel 7 Telethon Trust.
Postdoctoral Research Fellow Dr Andrew Chi Pang Tai (Perron Institute) has been awarded a grant for a project focusing on developing antisense therapies for Chromosome 15 imprinting disorders which include Angelman and two other currently untreatable congenital disorders – Prader-Willi syndrome (PWS) and 15q11-q13 duplication syndrome (DUP15q).
Children with AS, PWS and DUP15q experience a wide range of physical symptoms, learning difficulties and behavioral problems.
AS, named after British pediatrician Harry Angelman, who first described the syndrome, is associated with seizures and movement difficulties and children with AS have a happy demeanor and are usually non-verbal.
PWS can lead to excessive appetite, overeating and weight gain that can cause life-threatening obesity. Autism is another characteristic, among other mental health issues.
DUP15q can cause autism, seizures as well as cognitive and behavioural problems.
“All are due to the misregulation of genes located on chromosome 15. The symptoms can be seen as early as six months and the total number of children affected in WA is estimated to be over 100,” Dr Tai said.”
“There are no effective treatments that target these currently incurable genetic neurological diseases.”
“A previous Telethon grant has led to the discovery of lead compounds for potential treatments for PWS and DUP15q. This promising result also helped us secure another competitive research grant for 2025 from Prader-Willi Research Foundation of Australia.”
“This 2025 Telethon grant provides a valuable resource to launch a preclinical study for testing these novel lead compounds on neurons derived from patients’ stem cells which have an ability to generate all types of cells in the body. Today’s technology allows patients’ stem cells to be generated easily and safely from their blood or skin cells.
“We will also analyse and expand patients’ stem cells of AS, PWS and DUP15q from a biobank in the United States. This will further help us build a robust pipeline to test potential drugs for Chromosome 15 imprinting disorders in the future.
“We hope an active WA research community for Chromosome 15 imprinting disorders can be formed in the future.”
The key collaborator on this project is Dr May Aung-Htut (Co-Head of the Molecular Therapy Laboratory at the Personalised Medicine Centre at Murdoch University and Perron Institute).