Synopsis
The primary mitochondrial oxidative phosphorylation disorders are characterized by clinical and genetic heterogeneity, limited treatment options, and poor outcomes. Part of the complexity is because both the nuclear and mitochondrial genomes may be involved. Mitochondrial DNA is maternally inherited. From a reproductive counselling perspective, couples with a family history of mitochondrial DNA disease often have limited reproductive options available to them. Until recently, one of those options, mitochondrial donation (aka mitochondrial replacement), was illegal in Australia. With the passage of the Mitochondrial Donation Law Reform (Maeve’s Law) Bill 2021 earlier this year, this technology will soon become available in Australia.
In this presentation we will provide a brief clinical, biochemical, and genetic overview of mitochondrial disorders and the science and potential health risks associated with mitochondrial donation. In addition, we will consider some of the key ethical, legal, and practical challenges associated with mitochondrial donation, and will provide an overview of the Maeve’s Law campaign that ultimately led to Australia being only the second country to make mitochondrial donation legal.
Speakers
Professor John Christodoulou is the Director of the Genetics Research Theme and Co-Group Leader of the Brain and Mitochondrial Research Group at the Murdoch Children’s Research Institute (MCRI). In addition, he holds a chair in genomic medicine within the University of Melbourne’s Department of Paediatrics. As a metabolic physician and clinical geneticist for over three decades, he has been involved in the diagnosis and management of many children with mitochondrial disorders. He has had a longstanding collaborative research with Professor Thorburn in applying emerging multi-omic technologies to improve our understanding of the genetics and biology of mitochondrial disorders and other rare disorders. He has been actively engaged in helping promote the passage of Maeve’s Law through the Australian Parliament.
Professor David Thorburn is Co-Group Leader of the Brain and Mitochondrial Research Group at the MCRI, Head of the VCGS Mitochondrial Laboratory and an Honorary Professorial Fellow in the University of Melbourne’s Department of Paediatrics. He has worked in diagnosis and research of mitochondrial disorders for many years, with a particular interest in converting knowledge about mitochondrial DNA genetics into reproductive advice and options. This has enabled prenatal diagnosis and pre-implantation genetic diagnosis to be available to a subset of women at relatively low reproductive risk for mitochondrial DNA disease. He has advocated for legalising mitochondrial donation under a strong regulatory regime and was a member of the NHMRC Expert Working Committee that reviewed this topic.
Mr Sean Murray is the CEO and a founding director of the Mito Foundation. He is responsible for the development and execution of the Mito Foundation Strategic Plan and all aspects of Mito Foundation operations. Sean has worked in Australia, the UK and the US with broad industry experience in private and government sectors, including software development, business consulting and general management. Sean holds a degree in Computer Science and Pure Mathematics (BSc) from Sydney University. With multiple generations of family members affected by mitochondrial disease, Sean is deeply motivated to drive the impact of the work of the Mito Foundation in supporting the affected community and ultimately finding cures.
Professor Megan Munsie, PhD is a Group Leader of Stem Cell Ethics & Policy at the Murdoch Children’s Research Institute and Professor of Emerging Technology (Stem Cells) at the Melbourne Medical School. She is a highly experienced interdisciplinary scholar who leads a research theme on ethical, legal, and social implications of stem cell research for the international Novo Nordisk Foundation Center for Stem Cell Medicine. Findings from her research have influenced policy reforms at a national and international level and informed the design and delivery of educational resources for patients, healthcare professionals and the general public.