Genetic Health (BLC)

Health, wellbeing, access and equity for children and adults living with genetic diseases.

The primary focus of the Genetics Health group, as part of the Bruce LeFroy Centre (BLC) is conducting cutting-edge research on neurogenetic diseases affecting both children and adults.

Our group has a long-standing clinical and research interest in Friedreich ataxia and other ataxias, such as spinocerebellar ataxia (SCA) and dentatorubral-pallidoluysian atrophy (DRPLA).

The challenge for our researchers is identifying a treatment that can, at the very least, slow the progression of rare diseases in children and adults. While the search for treatment continues, people with rare neurogenetic diseases require access to specialist multi-disciplinary care based on long-term, evidence-based management.

The BLC addresses both critical needs by conducting clinical trials for treatments that aim to slow the progression of neurogenetic disease and by providing the evidence base for translational clinical care. The BLC was a site for the Friedreich ataxia omaveloxolone drug trial, which is now approved as the first pharmaceutical with proven benefits in the US and Europe.

Our Genetic Health group also conducts research into genetic screening. This includes screening for reproductive risks such as cystic fibrosis, Tay Sachs disease and thalassaemia, and screening for conditions that can affect the individual's health, including haemochromatosis. The BLC has led Mackenzie’s Mission, a $20 million Medical Research Future Fund (MRFF) project.

The Bruce LeFroy Centre is made possible by the generosity of the Lefroy family and friends, understands that children and adults with rare neurodegenerative diseases cannot wait for the cycle of pharmacological intervention to turn their way; they need intervention now that will at least slow, but optimistically, reverse the effects of these relentless diseases.