Australian Biobank for Chromosome 15 Imprinting Disorders

Project status: Active

Research area: Genomic Medicine > Diagnosis and Development

Leading the way: Innovative biobank for Prader-Willi and Angelman syndromes.

We have established and operate the first biobank in Australia aimed at improving research and treatments for rare genetic diseases caused by changes to genes on chromosome 15, including Prader-Willi syndrome (PWS) and Angelman syndrome (AS).

Recruitment and sample collection

Since 2020, the biobank has been recruiting individuals with these syndromes and collecting biological samples from various tissues, such as blood and skin cells. These samples are linked to family and clinical histories, and detailed clinical and psychological assessments are performed.

Understanding genetic variability

These resources help us better understand how changes to genes and their products (RNA and protein) cause variability in the severity of physical, intellectual, and behavioural challenges faced by individuals with these conditions. This understanding can lead to more effective treatments.

Data analysis and treatment development

The collected data will be analysed using advanced AI software to identify new biological pathways affected in PWS or AS. This information will be used to develop new treatments or repurpose existing drugs.

Collaboration and resource sharing

The biobank also makes these resources available to other researchers and industry, maximising the benefit of the samples and information collected for people with PWS.