Our first webinar follows the recent passage of the Mitochondrial Donation Law Reform (Maeve’s Law) Bill 2021. Join Professor David Thorburn on a closer look at mito donation and other reproductive options, designed to support conversations involving your patients’ family planning.
Prof Thorburn will briefly revisit mitochondrial disease genetics, including both mtDNA and nuclear DNA variations. The challenges of offering reproductive options for mtDNA disorders will be compared and contrasted to nuclear gene disorders. Other reproductive options including prenatal diagnosis, PGD and egg donation will be considered prior to exploring mitochondrial donation in further detail. Case examples will also be presented.
Presenter
Professor David Thorburn
BSc(Hons) PhD FHGSA FFSc(RCPA) FAHMS
Professor David Thorburn received his PhD in Biochemistry from the University of Sydney in 1987 before completing a Fulbright Fellowship with Prof Ernie Beutler at Scripps Clinic, La Jolla (San Diego), California. David returned to Australia in 1990, and is an NHMRC Principal Research Fellow at the Murdoch Children’s Research Institute (MCRI), located in the Royal Children’s Hospital in Melbourne. He holds honorary appointments in the Department of Paediatrics, University of Melbourne and with Victorian Clinical Genetics Services. David is a former President of the Human Genetics Society of Australasia and a former member of the Scientific Advisory Board for the United Mitochondrial Disease Foundation (USA).
David and John Christodoulou co-lead the MCRI Brain and Mitochondrial Research Group, which is primarily involved in research but also acts as the Australasian referral centre for diagnosis of mitochondrial disease in children. His lab has diagnosed more than 700 patients with mitochondrial disease and published over 200 scientific journal articles and reviews. David’s research focuses on the genetic basis of mitochondrial energy generation diseases. He has had a particular interest in understanding how mitochondrial DNA mutations are passed on from mothers to their children, and translating this knowledge into approaches for genetic counselling, prenatal diagnosis and prevention. He also studies the roles of nuclear genes, which are inherited from both parents. His lab has identified over 25 novel “disease” genes using a range of genomic and cell biology approaches. His lab has developed mouse models and human stem cell models of mitochondrial disease that are being used to study the precise disease mechanisms and to trial treatment strategies.
David is a founding director of the Mito Foundation and a member of the Mito Foundation Nominations Committee and the Mito Foundation Scientific & Medical Advisory Panel.