Project Lead
Dr Megan Ball
BIO
Mitochondria are tiny structures within our cells that provide our bodies with over 90% of the energy we need to live and function. Mitochondrial disorders (MD) occur when this energy pathway is not working properly, so cells can’t create energy efficiently, and start to fail. These conditions are rare and have been associated with over 350 different genes. MitoMDT is a national program aiming to improve the diagnostic pathway for individuals with suspected MD. My research will explore how diagnostic yields can be enhanced using the integration of genomics and multi-omics to identify pathogenic variants in known and novel mitochondrial disease genes.
- Megan Ball, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Jason Pinner, Matthew F Hunter, Christopher P Barnett, Mathew Wallis, Benjamin Kamien, Tiong Y Tan, Mary-Louise Freckmann, Karin Kassahn, Tony Roscioli, Alison G Compton, David R Thorburn, Sebastian Lunke, Zornitza Stark, John Christodoulou. Critically unwell children with mitochondrial disorders diagnosed by ultra-rapid genomic sequencing
- Poster Presentation at Euromit 2023 – Bologna, Italy
- Oral Presentation at HGSA ASIEM SIG 2023 – Melbourne Australia
- Oral Presentation at Students of Brain Research 2023 – Melbourne Australia – Third Prize for Oral Presentation
- Poster Presentation at SSIEM 2024 – Porto, Portugal – Top Ranked Poster
- Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [Updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1173/
- Megan Ball, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Jason Pinner, Matthew F Hunter, Christopher P Barnett, Mathew Wallis, Benjamin Kamien, Tiong Y Tan, Mary-Louise Freckmann, Karin Kassahn, Tony Roscioli, Alison G Compton, David R Thorburn, Sebastian Lunke, Zornitza Stark, John Christodoulou. Critically unwell children with mitochondrial disorders diagnosed by ultra-rapid genomic sequencing – Accepted for publication in Genetics in Medicine
- Finalist for No Bell Prize
- Mito Foundation PhD Top Up Scholarship
- Ackmann Travelling Scholarship – to attend SSIEM in Portugal 2024