Biobank for chromosome 15 disorders coming to Melbourne

Monday, 12 October, 2020

Biobank for chromosome 15 disorders coming to Melbourne

The first biobank in Australia aiming to improve research and treatments into rare genetic diseases caused by changes to genes on chromosome 15, including Prader-Willi syndrome and Angelman syndrome, will be established at the Murdoch Children’s Research Institute (MCRI) in Melbourne after receiving over $150,000 in funding.

“For the first time Australia will have a purpose-built biobank of different biological samples from people with genetic diseases caused by changes to genes on chromosome 15,” said Kath Jones, founder and CEO of the Prader-Willi Research Foundation Australia (PWRFA).

“This is the gold standard for biomedical sample collection. It meets a glaring need in Australia, laying the foundation for new lines of research to potentially help thousands of families around the world.”

MCRI’s Professor David Amor added that there is a great need to establish national and international infrastructure that will enable sharing of biospecimens such as blood and tissue samples that could be linked to already established registries and cohorts.

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are considered to be rare diseases found 1 in 15,000 in the general population. PWS is a leading cause of life-threatening obesity, while AS is associated with severe seizures that can be lethal. Individuals affected with either AS or PWS encounter significant intellectual and behavioural challenges and require targeted treatments that are not yet available.

MCRI researchers and their national collaborators will recruit 100 people over three years with PWS and AS and collect biological samples from different tissues such as blood and skin cells, which will be linked to family/clinical histories, and perform detailed clinical and psychological assessments.

MCRI’s Associate Professor David Godler said this resource will help to better understand the links between the genetic changes that cause PWS and AS and the physical, intellectual and behavioural challenges faced by these individuals. He said a particular focus will be on the mental health problems experienced by people with PWS and AS and how these might be treated more effectively.

Data generated by the biobank will be analysed using advanced artificial intelligence software to identify biological pathways that are disrupted in these disorders, with the aim of developing new treatments. Data and biological specimens from the biobank will also be made available to other researchers and industry, maximising the impact of sample collection for people and their families affected with these rare and complex genetic diseases.

Assoc Prof Godler said the facility will help better diagnose and treat newborns, children and adolescents affected by genetic diseases caused by faulty regions of chromosome 15.

“The clinical data will identify targets for support most relevant to the Australian setting that may lead to more effective models of treatment in the first year or to improve long-term outcomes,” he said.

“Increasing awareness of the early markers may help us diagnose these syndromes earlier, while tracking the critical developmental period from birth to the first birthday.”

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