A new research project aimed at finding a cure for the genetic disorder Neurofibromatosis (NF) has been given a Flicker of Hope. The project underway at The Children’s Hospital at Westmead (CHW) has received $350,000 in funding from the Flicker of Hope Foundation delivered through the Sydney Children’s Hospitals Foundation.

This boost will go towards a gene therapy approach to NF, led by Associate Professor Aaron Schindeler and a team of researchers across CHW, the Children’s Medical Research Institute (CMRI) and the Australian National University.

“We are incredibly excited to be funding Aaron’s research, as this project is the first to come to us actively seeking a cure for NF. It has the potential to dramatically impact all those affected by NF,” Anne Petropoulos, Board Director of Flicker of Hope, said.

Neurofibromatosis is a genetic condition characterised by tumours on the covering of the nerves. There are two types, both are associated with tumours, but can lead to other health issues including orthopaedic problems, childhood learning difficulties, muscle weakness or fatigue, deafness and tumour-associated vision loss.

About one in 3,000 births globally has NF1, affecting 10,000 Australians, while one in 30,000 births has NF2.

A/Prof Schindeler’s Bioengineering and Molecular Medicine group has made great strides in the treatment of NF1, after successfully treating muscle weakness in children with NF1 with an over-the-counter nutritional supplement. However, without a cure for NF, medical professionals are currently limited to monitoring and managing complications once they have occurred.

With gene therapy the goal moves from the treatment of symptoms, to overcoming the disease-causing mutation through gene repair.

“Patients are often given a concerning or even bleak picture of their future. There's very little that can be done to stop these things from happening. But gene therapy will allow us to proactively prevent things like tumour formation before they even happen,” A/Prof Schindeler said.

The team, including Dr Samantha Ginn from the Gene Therapy Research Unit at Kids Research and CMRI, have developed a gene therapy vector that targets the tumour-causing cells in NF.

If this gene editing technique achieves a high enough efficiency, then it can be used to repair those mutated cells in childhood, leading to a brighter outlook for the patient in adulthood.

“Tumour formation can often ramp up during adolescence. So if we can do something before the tumours occur, then that would be a great time to treat what is often the big concern in patients with NF,” A/Prof Schindeler said.

Gene therapy breakthroughs in the last decade have seen remarkable results for severe conditions including Spinal Muscular Atrophy and inherited retinal dystrophy.

Despite distinct challenges, including the range of tissues that need to be targeted and the high level of editing efficacy needed, these are not unique to NF. So this project’s technology innovations will be applicable to the widespread use of gene medicine as a practical treatment for other genetic conditions.

If you would like to directly donate to this project please visit the Sydney Children’s Hospitals Foundation website, or if you would like to support Flicker of Hope’s ongoing commitment to NF medical research, you can make a tax deductible donation at Flicker of Hope's website.