Happy child with a rare genetic disorder, sitting in a classroom

For families of children with Prader-Willi syndrome, it can mean a lifetime spent searching for the right treatments.  

Beginning in childhood, the rare genetic disorder causes delayed development and behavioural issues, and those affected constantly become hungry, which often leads to obesity and type 2 diabetes.   

Like most rare diseases, it’s an uphill battle for early diagnosis and medical interventions given the scarcity of the condition – one in 15,000 children are born with Prader-Willi syndrome.  

But in a comfort to these families, an international project aiming to better understand and treat the syndrome will continue its vital work after receiving renewed funding. 

After an initial $140,000 grant from the Foundation for Prader-Willi Research in 2021, the foundation has gifted the project a further $254,000 over the next two years.

The project is a collaboration between the Murdoch Children’s Research Institute, the University of Kansas Medical Center  (KUMC) and the Florey Institute of Neuroscience and Mental Health, and is led by Associate Professor David Godler.  

Prader-Willi syndrome occurs due to an alteration of chromosome 15, one of the most complex regions of the human genome, affecting almost all systems of the body and brain.

The disorder is associated with life-threatening obesity in children and results in constant insatiable hunger, decreased physical activity and a reduced metabolic rate. People with the disorder also experience mental health challenges, physical changes and hormone deficiencies.   

Associate Professor Godler said he hoped to better understand the genetic causes to help children and their families identify early predictors of symptoms that may be targeted with specific treatments. 

“Using state-of-the-art genomic technologies, we hope to define abnormalities in specific cells of the brain in Prader-Willi syndrome and identify medications to target these abnormalities in future clinical trials,” he said. This would help improve the lives of children and adults with this disorder and help their families and clinicians better care for them.”  

The project will use the world’s largest collection of brain tissues from the University of Maryland Brain and Tissue Bank to further research the differences in the function of different types of cells.  

“Datasets obtained from this collection will be shared with a global community of scientists and will build on the work performed in this project to better understand how impairment of neurological pathways affect different types of cells in the brain and how they may cause various Prader-Willi syndrome symptoms,” Murdoch Children’s Associate Professor Mirana Ramialison said.  

Murdoch Children’s Professor David Amor said the findings could lead to the development of new disease models to test new therapies and prognostic tests, enabling early intervention and targeted treatments for people with this complex condition.   

The study was funded by the Foundation for Prader Willi Research (USA) and the Murdoch Children’s Research Institute.