The Mito Foundation held a digital symposium on Thursday 17 September, as part of World Mitochondrial Disease Week (formerly Global Mitochondrial Disease Awareness Week). The Symposium gathered leading local and international mitochondrial disease (mito) experts to explore the latest research developments and their implications on future treatments and diagnosis of mito.

The Symposium’s theme was “Gene Therapies and the Promise for Mitochondrial Disease”.

Curated by two leading Australian mitochondrial disease experts, Prof Mike Ryan and Prof David Thorburn, the Symposium explored the latest in gene therapies and the implications for future diagnosis and treatments.

We were excited to have an incredible line-up of expert speakers from around the globe:

• Prof Ian Alexander, Children’s Medical Research Institute (Australia)
• Prof Carlos Moraes, Miller School of Medicine, University of Miami (USA)
• Prof Vamsi Mootha, Howard Hughes Medical Institute & Harvard Medical School (USA)
• Dr Beverly Mok, Harvard University (USA)

Symposium Resources and Recordings

 

Please use the links below to access the relevant resource:

 

• Prof Ian Alexander – Advances in gene therapy at the clinic (recording)

• Bioengineered AAV Capsids with Combined High Human Liver Transduction In Vivo and Unique Humoral Seroreactivity (article) – Featuring work done by Prof Ian Alexander

• Prof Carlos Moraes – Gene therapy & mouse models of mito disease (recording)

• Myopathy reversion in mice after restauration of mitochondrial complex I (article) – Featuring work done by Prof Carlos Moraes

• Sean Murray – Mito Foundation Update (recording)

• New molecular tool precisely edits mitochondrial DNA (article) – Featuring work done by Beverly Mok

Expressions of interest for the 2021 Symposium will open soon.

Symposium Program and Speaker Information

Please expand each section to learn more about a session’s speaker.

9:00am – 9:05am | Welcome, Prof Mike Ryan Co-chair Expand Professor Mike Ryan
BSc (Hons) PhD

Professor Mike Ryan is Head of the Mitochondria lab at Monash University. He has performed research into the molecular cell biology of mitochondria for over 20 years. In 1997, he was awarded an Alexander von Humboldt fellowship and worked for 3 years at the University of Freiburg in Germany. In 2000, he took up a position at La Trobe University with a postdoctoral fellowship from the Australian Research Council and then became an academic member in 2001. Over the past 10 years, Mike and his group have investigated the biochemical and cellular defects associated with mitochondrial disease and also research into the inheritance of mitochondria. Mike and his team relocated to Monash University from La Trobe University in 2014.

Session 1: Advances in gene therapy – Prof Nigel Turner, Chair Expand Professor Nigel Turner
BSc (Hons) PhD

A/Professor Nigel Turner is head of the Mitochondrial Bioenergetics Laboratory at UNSW Australia. He completed a PhD in 2004 in comparative physiology and biochemistry at the University of Wollongong. From 2005-2012 he was in the Diabetes and Obesity Research Program at the Garvan Institute of Medical Research in Sydney, supported by a NHMRC Peter Doherty Fellowship and NMHRC Career Development Award. In 2012 he was awarded an Australian Research Council Future Fellowship and relocated his research group to UNSW.Nigel’s research focuses on investigating factors that regulate mitochondrial function and cellular bioenergetics in healthy and diseased states. In particular his research group is seeking to understand how aberrations in cellular energy metabolism may contribute to the pathogenesis of diseases such as diabetes and cancer.

9:05am – 9:25am | Prof Ian Alexander – Advances in gene therapy at the clinic Expand Prof Ian Alexander
BMedSci, MBBS (Hons), PhD, FRACP (paeds), HGSACG, FAHMS

Professor Alexander is head of the Gene Therapy Research Unit, a joint initiative of Sydney Children’s Hospitals Network and Children’s Medical Research Institute in Sydney. Within the hospital he also holds appointments as a senior staff specialist and Director of laboratory research. His training and day-to-day activities in both clinical medicine and laboratory research reflect his interest in translating research progress into improved health outcomes for children. After finishing specialty training in paediatrics he obtained a PhD in Molecular Biology from the Garvan Institute in Sydney before completing clinical genetics training at the Murdoch Institute in Melbourne. He then undertook postdoctoral studies at the Fred Hutchinson Cancer Research Center in Seattle, returning to Australia to take up his current position. His specific expertise and interests include virus-mediated gene transfer with a focus on metabolic liver disease and primary immunodeficiencies. He is currently Associate Editor for Human Gene Therapy and The Journal of Gene Medicine and an Editorial Board Member for Molecular Therapy – Methods & Clinical Development. He is a Fellow of the Australian Academy of Health and Medical Sciences and a Visiting Professor at University College London. In 2017 he was appointed as Co-Chair, NSW Health Genomics Steering Committee and in 2018 appointed as a member of the NSW Health New Technology and Specialised Services (NTASS) Committee and Commonwealth Health Genomic Screening Working Group of the Standing Committee on Screening.

9:25am – 9:45am | Prof Carlos Moraes – Gene therapy & mouse models of mito disease Expand Prof Carlos T. Moraes
BSc,MSc,MA,PhD

Dr Moraes’ lab works on the molecular basis of mitochondrial disorders, which are caused by defects in the cellular energy production system. Mitochondria contain their own DNA (mtDNA), and mutations in either mtDNA or nuclear DNA can disrupt the ATP synthesis machinery and trigger several pathways that can lead to disease or participate in cancer progression. He also studies the role of mitochondrial function in aging and develops pharmacological and genetic approaches to treat mitochondrial defects.

9:45am – 10:05am | Q&A moderated by Prof Carolyn Sue AM Expand

Professor Carolyn Sue AM
MBBS, PhD, FRACP Professor Carolyn Sue has been trained as a neurologist as well as a research scientist. She has been running Australia’s largest specialised clinic dedicated to the diagnosis, assessment and treatment of adult patients with mitochondrial disease since 1994. In 2003, she set-up Australia’s first exercise laboratory dedicated to the treatment of mitochondrial muscle disease and showed that aerobic exercise training improved muscle performance in Australian patients with mitochondrial disease. It was her vision, combined with the actions of Dr Doug Lingard, which led to the establishment of the Mito Foundation in 2009.Professor Sue is currently appointed as Professor at the University of Sydney, the Director of the Department of Neurogenetics at Royal North Shore Hospital and the Director of the National Centre for Adult Stem Cell Research (Sydney Node). She completed her post-doctoral studies at Columbia University in New York, and returned to Australia in 2000 to establish her own research team, currently located at the Kolling Institute of Medical Research, at Royal North Shore Hospital. She has a major interest in understanding the disease processes involved in mitochondrial disorders, with an emphasis on developing new treatment options for affected patients. She is also using stem cells as a cellular model to investigate mitochondrial disease.Carolyn is a founding director of the Mito Foundation. 10:10am – 10:20am | Sean Murray, CEO Mito Foundation Expand

Sean Murray

Sean 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 lived and worked in Australia, the UK and the US with broad industry experience in both private and government sectors, covering 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 mito, Sean is deeply motivated to drive the impact of the work of the Mito Foundation in supporting the mito community and ultimately finding a cure for mito.

Beyond the world of mito, Sean lives with his wife and two children in a tight-knit community in inner Sydney.  He has a soft spot for classic rock hits from the ’70s & ’80s as well as American muscle cars from the ‘60s.  Sean also pretends to play saxophone in a Brazilian drumming band.

Session 2: Precise editing of mtDNA – Dr Diana Stojanovski, Chair Expand

Dr Diana Stojanovski

Diana Stojanovski obtained her BSc (Hons) and PhD in the Department of Biochemistry at La Trobe University. In 2006 she commenced post-doctoral work in the lab of Professor Nikolaus Pfanner, a world-leader in mitochondrial protein import at the University of Freiburg in Germany. Her time in Germany was supported by a prestigious Alexander von Humboldt Fellowship. In 2009 Diana returned to the Department of Biochemistry at La Trobe University and as an Australian post-doctoral fellow (funded through the ARC) set up her independent research group dealing with mitochondrial protein trafficking. She was recruited to the Department of Biochemistry and Molecular Biology at the University of Melbourne in 2013 as the Biochemistry Fund Fellow and runs the Mitochondrial Biogenesis and Disease lab. 

10:20am – 10:40am | Prof Vamsi Mootha – The challenges of manipulating mtDNA Expand Prof Vamsi Mootha
BS(Hons), MD

Dr Vamsi Mootha is an Investigator of the Howard Hughes Medical Institute and a Professor of Systems Biology and of Medicine at Harvard Medical School. His laboratory is based in the Department of Molecular Biology and Center for Genome Medicine at Massachusetts General Hospital. Dr. Mootha leads a research team dedicated to mitochondrial biology.

Dr Mootha received his B.S. (with honors, with distinction) in Mathematical and Computational Science at Stanford University. He then received his M.D. (cum laude) from the Harvard-MIT Division of Health Sciences and Technology, where his thesis research focused on mitochondrial energetics. Following an internship and residency in Internal Medicine at Brigham and Women’s Hospital, he pursued postdoctoral training in genomics at the Whitehead Institute.

His research group consists of clinicians, computer scientists, and biologists, who work collaboratively to elucidate the network properties of mitochondria, and how these properties go awry in human disease. His work has led to the discovery of nearly 20 Mendelian disease genes, to the discovery that mitochondrial dysfunction is associated with the common form of type 2 diabetes mellitus, and to the discovery of all of the molecular components of the mitochondrial calcium uniporter.  His team has also developed generic, computational tools that have been widely used in biomedical research.

Dr. Mootha has received a number of honors, including a MacArthur Foundation Fellowship, the Judson Daland Prize of the American Philosophical Society, the Keilin Medal of the Biochemical Society, a Padma Shri from the Government of India, and election to the National Academy of Sciences.

10:40am – 11:00am | Dr Beverly Mok – Precise editing of mtDNA Expand

Dr Beverly Mok

Beverly Mok is a fifth-year graduate student at the Chemistry and Chemical Biology program in Harvard University. Mok received her B.A from the University of Cambridge in 2015. She took a gap year to work at the Institute of Materials Research and Engineering in Singapore before starting graduate school in 2016. In her PhD research with Professor David Liu, she collaborated with Professor Joseph Mougous (University of Washington) and Professor Vamsi Mootha (Harvard Medical School/Massachusetts General Hospital) to develop the first reported genome editing agent (DdCBE) that performs precise DNA edits in human mitochondrial DNA. She is currently learning the ropes of phage-assisted continuous evolution (PACE), a laboratory method developed in the Liu lab that enables proteins to evolve continuously. She hopes to apply PACE to expand the targeting scope and DNA substrate preferences of DdCBE.

11:00am – 11:20am | Q&A moderated by Prof Aleksandra Filipovska Expand Prof Aleksandra Filipovska
BSc(Hons) PhD

Aleksandra Filipovska is a Professor and NHMRC Senior Research Fellow at the University of Western Australia, the Harry Perkins Institute of Medical Research and Telethon Kids Institute in Perth, Australia. She received her PhD from the University of Otago, New Zealand and she was a NZ Foundation for Research, Science and Technology Fellow at the MRC Mitochondrial Biology Unit in Cambridge, the United Kingdom. She established her group in 2006 focusing on the regulation of gene expression by RNA-binding proteins and the use of animal models and multi-omic technologies to elucidate their molecular functions in health and disease. Her research group uses genomic technologies to design new models of mitochondrial, metabolic and cardiovascular diseases and develops treatments for these disorders.

11:20am – 11:30am | Final remarks, Prof David Thorburn Expand Prof 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, 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’s Brain and Mitochondrial Research Group 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 180 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 20 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 member of the Mito Foundation Nominations Committee and a founding director of the Mito Foundation.