Dr Tracy Dudding-Byth, from the regional Hunter New England Local Health District, recently received A$1.6 million for a new study to learn more about the rare disease neurofibromatosis type 1 (NF1).
NF1 is the most common neurogenetic condition, affecting around 1 in 3000 people, and causes tumours within nerve tissue. Children and adults with NF1 have an increased susceptibility to benign and malignant tumours, short stature, bone abnormalities, macrocephaly and learning problems. One of the most common features of NF1 are cutaneous neurofibroma. Most affected adults develop these distressing skin tumours, which increase in severity with age. Adult patients report potential cosmetic disfigurement due to these skin tumours as the greatest burden of living with NF1.
Identifying pathways for future treatment through research
The research team led by Dr Dudding-Byth hopes to uncover genetic information that can lead to better treatments for people living with these tumours. The study is called ‘The Neurofibromatosis type 1 (NF1) Cutaneous Neurofibroma Consortium: Identifying Genetic modifiers of disease burden to inform treatment pathways’.
There is no current treatment for NF1, nor any way to predict the number of tumours it will cause – which can range from fewer than 100 to thousands. The new study aims to identify genetic modifiers to understand the disease’s variability and characterise potential treatment pathways.
The study will establish a population cohort of 2000 adults with NF1. The project will use computer vision-based machine learning to assess the severity of the skin tumors using photographs. DNA samples will be used to look for genes which influence whether a person with NF1 will develop a mild or more severe form of the condition.
‘I am incredibly excited to have the opportunity to lead a project with the potential to make a difference in the lives of brave people with NF1 and their families. I just want to play a role in helping to find a treatment for this condition,’ says Dr Dudding-Byth.
Dr Dudding-Byth has shown an extraordinary commitment to patients, including co-founding Rare Voices Australia to unite and advocate for people living with a rare disease.
Data innovation through facial recognition technology
The funding announcement comes as the national health and medical research peak body, Research Australia, announced Dr Dudding-Byth as a finalist in its Health and Medical Research Awards.
Dr Dudding-Byth has been recognised in the Data Innovation award category (sponsored by Bupa Health Foundation) for her work using facial recognition technology to investigate and help diagnose children and adults with syndromic intellectual disability.
The FaceMatch project, led by Dr Dudding-Byth, is a first-of-its-kind international platform incorporating facial recognition technology to learn more about different monogenic causes of intellectual disability. About 50 per cent of children with moderate to severe intellectual disability have unique facial features, which can provide a clue to diagnosis.
Dr Dudding-Byth said the innovative rare disease recruitment platform developed for FaceMatch would be repurposed to enable international recruitment into the new NF1 study.
The most significant amount of funding dedicated to neurofibromatosis research in Australian history
The funding was made possible through the Australian Government’s Medical Research Future Fund (MRFF) and was propelled by advocacy efforts by neurofibromatosis (NF) families and the Children’s Tumour Foundation of Australia. The funding represents the first-ever large-scale investment into NF research in Australia. The MRFF had set aside up to A$7 million for successful research projects that met its criteria.