Genetic Health - Bruce LeFroy Centre

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

The Genetic Health group at the Bruce Lefroy Centre (BLC) is dedicated to improving the lives of children and adults living with genetic conditions.

Our research focus

Our group has a long-standing clinical and research focus on neurogenetic diseases, such as Friedreich ataxia, and other ataxias such as spinocerebellar ataxias, and dentatorubral-pallidoluysian atrophy (DRPLA).

We aim to accelerate diagnosis, improve treatment options, and enhance support for individuals and families affected by these complex conditions.

Challenges

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.

Our research priorities

We are committed to:

  • Understanding disease mechanisms: Investigating how genetic mutations cause neurodegenerative diseases.
  • Improving diagnostics: Developing faster, more accurate genetic testing methods.
  • Enhancing clinical care: Informing best practices for managing symptoms and improving quality of life.
  • Promoting equity in healthcare: Ensuring all communities have access to genetic services and support.

Key projects and collaborations

Our team leads and contributes to several national and international research initiatives, including:

  • Friedreich Ataxia Clinical Research Program: A long-standing program focused on understanding disease progression and testing new therapies.
  • Community genetics initiatives: Working with diverse communities to improve access to genetic information and services.
  • Collaborative studies: Partnering with universities, hospitals, and research institutes to share knowledge and drive innovation.

Clinical trials and genetic screening

The Bruce Lefroy Centre (BLC) addresses two critical needs in neurogenetic healthcare: advancing treatment and improving clinical care. We conduct clinical trials for therapies designed to slow the progression of neurogenetic diseases and generate the evidence base needed for effective, translational clinical care.

BLC was the trial site for the Friedreich ataxia omaveloxolone drug trial — the first pharmaceutical treatment for this condition to be approved in the United States and Europe.

In addition to treatment research, our Genetic Health group conducts research into genetic screening. This includes:

  • Reproductive carrier screening for conditions such as Cystic fibrosis, Tay Sachs disease and Thalassaemia.
  • Health screening for conditions that may affect an individual's wellbeing, including Haemochromatosis.

We also led Mackenzie’s Mission, a $20 million initiative funded by the Medical Research Future Fund (MRFF), aimed at exploring the national implementation of reproductive genetic screening in Australia.

Leadership and collaboration

The Centre is co-directed by Professor Martin Delatycki and Professor Paul Lockhart, both internationally recognised leaders in clinical genetics and molecular research.

We work closely with clinicians, scientists and community groups to ensure our research translates into real-world benefits.

Funding of BLC

The Bruce Lefroy Centre, made possible through the generosity of the Lefroy family and friends, recognises that families affected by rare neurodegenerative diseases cannot afford to wait.

While long-term pharmacological solutions are in development, there is an urgent need for interventions that can slow and ideally reverse the effects of these relentless conditions.

Contact us

Professor Paul Lockhart, Group Leader / Co-Director BLC
Email: 

Professor Martin Delatycki, Group Leader / Co-Director BLC
Email: [email protected]