Australia’s first chromosome 15 disorders biobank

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).

Prader-Willi Research Foundation Australia (PWRFA) founder and CEO Kath Jones announced the chromosome 15 disorders biobank project earlier this week, in collaboration with MCRI’s Associate Professor David Godler and Professor David Amor and the Foundation for Angelman Syndrome Therapeutics (FAST) Chairperson Meagan Cross.

“For the first time Australia will have a purpose-built biobank of different biological samples from people with genetic diseases cause by changes to genes on chromosome 15,” Ms Jones said.

“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.”

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.

Associate Professor Godler said this resource would 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 was 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.

The biobank initiative has been made possible by over $150,000 in funding. This included a $65,000 Perpetual 2020 IMPACT Philanthropy grant funded by the Laurence G & Jean E Brown Charitable Trust, $25,000 from donors to the PWRFA granted to co-investigators Associate Professor Godler and Professor Amor, $25,000 in-kind contribution from Professor Godler’s lab, as well as, $45,000 for a two year fellowship awarded by FAST to MCRI Dr Emma Baker.

Associate Professor Godler said the facility would 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.”