Areas of Focus
The LifeArc Centre for Rare Mitochondrial Diseases has four main areas of focus:
Diagnosis
Over-arching aim: To help more patients and families get a genetic diagnosis for mitochondrial disease.
- Mitochondrial diseases are difficult to diagnose because they have a range of symptoms and complex causes.
- New advances have helped, but approximately 30% of families still don’t have a genetic diagnosis.
- New methods are needed to increase diagnosis. This will improve clinical care through monitoring and preventing mitochondrial disease and help identify patients for clinical trials.
- Examples of new methods include: Long-read genome sequencing, transcriptomics, metabolomics, and proteomics.
Biomarkers
Over-arching aim: To develop a list of biomarkers that are specific to different organs, to help test new treatments.
- There is a lot of variation between patients, making it hard to track how a disease changes over a short period of time.
- There are no universally recognised biological markers to check how well treatments are working.
- We need new, reliable markers that are specific to diseases and less invasive.
New Treatments
Over-arching aim: To show that the national platform works by testing and delivering new treatments.
- There are many new ways to treat diseases using advanced therapies, including for both nuclear and mitochondrial DNA problems.
- We will set up a national platform to test if these treatments are safe and effective for mitochondrial diseases.
- The Lily Foundation will lead a single recruitment strategy.
- The platform will start by testing 6 new treatment approaches, including advanced therapies.
- Examples of treatments include: gene therapies, gene editing, small molecules, and food supplements.
- These treatments will be based on scientific research and our understanding of how diseases work
Patient and Public Involvement and Engagement (PPIE)
Over-arching aim: To give patients a voice and encourage them to take part in research.
- The centre’s Patient and Public Involvement and Engagement (PPIE) activity will be led by the Lily Foundation.
- Breaking news, personal stories and research updates can be found on the Lily Foundation news feeds on a rolling basis.
- The Lily Foundation will continue to offer support services (including emotional and practical support).
- Communications about the centre will be highlighted on the Lily Foundation Research Zone.