A Murdoch Children's Research Institute project has received funding to advance research into a new rare disease that causes severe neurological symptoms in children.

Dr Nicole Van Bergen secured USD$155,744 from the RTW Charitable Foundation which will support her research into a disease she identified in children with mutations in the TRAPPC4 gene.

Children with genetic variants in this gene have seizures, developmental delay, microcephaly (a birth defect where a baby's head is smaller than expected), deafness, and other severe neurological symptoms reported Dr Van Bergen in Brain.

"Until now there were no genetic links between the gene TRAPPC4 and these children's health problems, and families did not know what the underlying cause for their child's health issues was," Dr Van Bergen said.

"Our work has critically completed the lengthy genetic diagnostic odyssey for these children. We are now aware of clinicians diagnosing more children with this condition, using the genetic discoveries from our work."

Dr Van Bergen aims to uncover the molecular basis of this rare disease to improve clinical diagnosis which may inform her of treatments available for children and families suffering from this hereditary disease.

A genetic disorder happens when a gene (or genes) has a problem with its code (similar to a blueprint), and this causes a health problem. Sometimes a genetic disorder happens when a child inherits it from one or both parents – such as the TRAPPC4 gene mutation.  

By understanding the molecular makeup of the TRAPPC4 gene mutation, Dr Van Bergen hopes to address fundamental questions relating to this neurodevelopmental disease and use the latest genetic therapies in an effort to improve the symptoms of this condition.

The RTW Charitable Foundation supports research in ultra-rare diseases with a special emphasis on projects that have the clearest potential to lead to a therapy.