Your Donations at Work

Thanks to the generosity of our supporters, new research is taking place bringing us closer to effective treatments and cures for mitochondrial disease (mito), as well as prevention and improved diagnostic methods.

You have also helped deliver a new GP education project, which will have an immediate impact on many patients.

Your donations are enabling vital research and education to take place.

NEW Medical Research Funding

Functional Genomics in Gene Discovery and Clinical Practice

Australian children with suspected mitochondrial disease (mito) will have the best possible opportunity to achieve a diagnosis, thanks to this project. Professor Thorburn’s work will underpin ongoing sustainable provision of genomic and functional genomic testing.

Dysfunction of Mitochondiral Protein Import and Mito

Future development of treatments will, it is hoped, stem from this important research. The project aims to improve our understanding of mitochondrial biology, mitochondrial function and mitochondrial physiology in disease. This knowledge will have far reaching implications for many areas of mitochondrial research.

Building a National Clinic Database for Patients with Mito to Provide a Future for Precision Medicine

Professor Sue will lead clinical and public health teams in designing the first custom-built, secure national clinical database for adult patients. The database will assist in the assessment of new treatments and preventative strategies, and will help to improve the care and treatment of patients.

Investigating Pathogenesis Associated with Dysfunctional Mitochondrial Protein Import

Understanding how mitochondria work is the key to finding treatments and cures for the many types of mitochondrial diseases (mito). This project focuses on increasing knowledge about a specific molecular component within mitochondria and its impact on patients with Sengers syndrome, a severe type of mito.

Evaluating the Cost-Effectiveness of Whole Genome Sequencing for the Diagnosis of Mito

Aiming to change the diagnostic model to a more accurate and cost-effective blood test, this project will provide a rapid answer, faster access to early intervention, and completely transform the way mito is treated. Faster diagnosis will help avoid some of the anxiety and financial impact caused by long waits for often inconclusive results.

 Creating an Australian Clinical Trials Network for Mito

This project will support the creation of an Australian Clinical Trials Network for Mitochondrial Disease (ACTN-MD) and then test the framework by running a clinical trial. The ACTN-MD will form a sustainable framework to provide access to clinical trials, giving patients the opportunity to access potentially lifesaving treatments.

NEW Education Project

Maybe it’s Mito

One of the biggest challenges facing mito patients is finding a GP who recognises the signs of mito and who understand the disease in order to correctly manage them. By educating GPs the project aims to help undiagnosed patients get referrals to specialists earlier and improve symptom management.