More than AU $4.6 million has been awarded to four successful research projects to better understand Neurofibromatosis (NF) and help improve the lives of people living with this condition, which marks the most significant amount of funding to be dedicated to NF research in Australian history.
The Children’s Tumour Foundation (CTF)— the peak national body supporting people living with NF—says this funding is a remarkable leap forward for the community, validating that their clients' voices have been heard.
NF is the most common neurological genetic condition, and yet awareness is still relatively low around Australia. NF causes tumours to form on nerves in the body, including the brain and spine. Progressive and unpredictable, it can also cause cancer, blindness, deafness, as well as physical differences, learning difficulties and chronic pain. In Australia, it affects one in every 2,500 people and on average, every three days a child is born with NF.
Announced earlier this year, the funding was made possible through the federal government’s Medical Research Future Fund (MRFF). It has been the culmination of numerous discussions between the CTF, the NF community and the Minister for Health and Aged Care, The Hon. Greg Hunt MP. The funding represents the first-ever large-scale investment into NF research in Australia. The MRFF had set aside up to AU$7 million for successful research projects that met its criteria.
The University of Newcastle in New South Wales was awarded AU$1.6 million in funding for its research into the underlying causes of NF tumours on the skin. The research team led by Dr Tracy Dudding hopes to uncover genetic information that can lead to better treatments for people living with these tumours. “There’s no way of predicting whether a person will have less than a hundred or thousands of neurofibromas. It is incredibly exciting to have this opportunity to positively impact the lives of people living with NF1 and their families,” says Dr Tracy Dudding.
For Bradley Dowling, who has previously appeared on “You Can’t Ask That” on ABC TV to share his story about living with visible NF tumours, the research is a welcome step forward. “If you don’t do the research, you don’t know. But if we do the research, one day we will have a cure.”
The Murdoch Children’s Research Institute (MCRI) in Victoria received funding for two projects. The first aims to detect Malignant Peripheral Nerve Sheath Tumours (MPNST) led by Dr Gabriel Dabscheck was awarded AU$1.6 million in funding. His team hopes to develop a simple blood test that can diagnose this type of cancer that is common for people living with NF1. At the moment, patients have to undergo numerous scans and an invasive biopsy to get to a diagnosis.
The MPNST research team at 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.
Also at MCRI, a research team led by Dr Jonathan Payne and the University of Melbourne’s Professor Gary Rance has been awarded AU$599,000. The funds will be used to trial listening devices to help children with NF1 overcome hearing difficulties. Almost half of all children living with NF1 are affected by hearing difficulties. The device is hoped to improve learning outcomes for children and allow them to engage more in the classroom, improve their attention and behaviour.
19-year old Mykaela lives with NF1 and was involved in an initial study looking to validate this area of research at MCRI. Her mother, Kathleen was surprised to learn that her daughter was having hearing difficulties. “This research is so important so that we can better understand and move forward with helping our children learn. Mykaela even taught herself to lip read in a classroom setting from Year 1, where the background noise brings her hearing level down to about one in every six spoken words. All of us didn’t come to realise this was happening until she was in Year 9,” says Mykaela’s mother Kathleen Bernoth.
Monash University in Victoria was awarded AU$818,000 to help define clinical variations in NF1. By building knowledge of the factors that underlie variation in NF1, the research team led by Dr Andrew Ellisdon hopes to improve clinical care for Australians living with NF.
“We are elated to see these four research projects receive funding through the government’s MRFF. We support hundreds of people each year living with NF and we know they are keen for research to continue providing answers and one day find a cure,” says Natalie McCloughan, National Support Coordinator CTF.