Funding boost for research into genetic disorder that causes nerve tumours

Two Murdoch Children's Research Institute (MCRI) projects have received funding for Neurofibromatosis 1 (NF1) research, which could lead to faster diagnosis and better treatment. 

NF1 affects about 1 in 2500 people worldwide, including 10,000 Australians. NF1 is a tumour predisposition syndrome. As well as tumours, the mutated genetic pathway in NF1 often gives rise to neurodevelopmental disorders and delayed or impaired development. As a result, 40 per cent of affected children have ADHD, a quarter have autism spectrum disorder and more than half experience learning difficulties like dyslexia.

Dr Jonathan Payne and Dr Gabriel Dabscheck have secured grants to advance their research into NF1 from the Medical Research Future Fund (MRFF). The funding was announced as part of the 2021 MRFF neurofibromatosis round by Federal Health Minister Greg Hunt.

Dr Dabscheck's project will focus on a specific type of cancer that occurs in NF1 patients called Malignant Peripheral Nerve Sheath Tumour (MPNST). His team aims to develop a blood test to diagnose this cancer. Dr Dabscheck's team at the MCRI will lead a multi-site study involving The Royal Children's Hospital, Royal Melbourne Hospital, St Vincent's Hospital, Peter MacCallum Cancer Centre, Royal North Shore Hospital, The Children's Hospital at Westmead and the Garvan Institute of Medical Research.

"Our study will explore the genetic changes that lead to this type of cancer in NF1 patients to create a new diagnostic intervention. Liquid biopsies are an exciting new area of genomics which help us detect cancer through a simple blood test," he said.

"The current clinical diagnosis involves MRI and PET scans followed by an invasive biopsy. By working with doctors and scientists across Australia to develop this new technology, with key pilot funding from philanthropic organisations including the Flicker of Hope foundation, we hope to improve the lives of patients with NF1."

Dr Payne's project, in collaboration with the University of Melbourne's Professor Gary Rance, will trial a device to help children with NF1 overcome hearing problems, which affect almost half of all children with the condition.

"We expect this pivotal trial to substantially change how we treat the many children with NF1 who experience impaired hearing symptoms across Australia and worldwide," he said.

"Severe hearing problems cause disruptions to children's everyday communication and academic progress. Unfortunately, there are minimal evidence-based interventions for these problems in patients with NF1, and there is an urgent need for trials targeting this area of clinical need.

"We think that remote microphone listening devices, which help patients discriminate important sounds like a teacher's voice from background noise, could have immediate benefits for these kids at home, school and in the community. Prolonged use has also been linked with improved speech, further improving quality of life."