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Articles by David Thorburn
Automated reanalysis of genomic data for rare disease diagnostics at scale
Abstract Reanalysis of genomic data in rare disease is highly effective in increasing diagnostic yields but remains limited by manual approaches. Automation and optimization for high specificity will be necessary to ensure scalability, adoption and sustainability of iterative reanalysis.
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
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Keywords NDUFA5 mitochondrial disease mitochondriopathy complex I deficiency CI deficiency Main text The nuclear gene NDUFA5 (MIM: 601677) encodes a structural subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), specifically located in the peripheral arm (Q module) of the enzyme complex. Complex I is the largest enzyme of the mitochondrial respiratory chain and is essential for oxidative phosphorylation.
By Natalie Tan, Matthias Gautschi, Daniella H. Hock, Robert Kopajtich, Jia Wang, Xiao Qian, Tanavi Sharma, Timothy Green, Jean-Marc Nuoffer, Katrina Bell, Tegan Stait, Chloe Pike, Michelle Cao, Susan White, David Thorburn, Theresa Brunet, Matias Wagner, Wolfgang Müller-Felber, Thomas Klopstock, André Schaller, Jing J. Liu, David Stroud, Holger Prokisch, Michael Raum, Katarzyna Pospieszny, Leopold Zeng
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The American Journal of Human Genetics
Verified
Mainstreaming genomic testing for mitochondrial disease in Australia - European Journal of Human Genetics
Abstract Genomic sequencing has transformed the diagnostic approach for mitochondrial disease, yet integration into standard clinical practice is limited by access and funding. We conducted a post-implementation evaluation of genome sequencing (GS) for mitochondrial disease in Australia, which became publicly funded through the Medicare Benefits Scheme (MBS) in November 2023, to allow for broader access to testing.
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome
Funding: This work was supported by the Research Training Program Scholarship offered by the University of Melbourne. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children's Hospital Foundation.
Cutting the diagnosis journey for children born with rare genetic diseases
In its standard definition, the word "rare" describes something that doesn't happen very often. So families who receive a diagnosis of a "rare genetic disease" understandably feel isolated and that their situation is indeed uncommon. But in reality, when all diagnoses of "rare genetic diseases" in Australia are combined, they affect about 2 million people or about 8% of our population. Despite affecting so many individuals and families, the journey to a diagnosis can still be long and complicated.
Review: Utility of mass spectrometry in rare disease research and diagnosis - npj Genomic Medicine
Abstract Individuals affected by a rare disease often experience a long and arduous diagnostic odyssey. Delivery of genetic answers in a timely manner is critical to affected individuals and their families. Multi-omics, a term which usually encompasses genomics, transcriptomics, proteomics, metabolomics and lipidomics, has gained increasing popularity in rare disease research and diagnosis over the past decade.
Most patients with mitochondrial disease can be diagnosed via genomic sequencing - InSight+
Diagnosis of mitochondrial diseases has often required invasive muscle biopsies, but a national study shows that most patients can be diagnosed by genomic testing of blood. The term “mitochondrial diseases” (MDs) encompasses nearly 400 monogenic disorders. MDs result in problems in mitochondrial energy generation and can be caused by pathogenic variants in any of the 37 mitochondrial DNA (mtDNA) genes, which we inherit from our mother, or in over 300 nuclear genes.
Quantifying constraint in the human mitochondrial genome - Nature
Abstract Mitochondrial DNA (mtDNA) has an important yet often overlooked role in health and disease. Constraint models quantify the removal of deleterious variation from the population by selection and represent powerful tools for identifying genetic variation that underlies human phenotypes1,2,3,4. However, nuclear constraint models are not applicable to mtDNA, owing to its distinct features.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome - Nature
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Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2.
By Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah Stenton, Susan Walker, Jenny Lord, Alexandra Martin-Geary, Erwan Delage, Elston N. D’Souza, Seth Berger, Jonathan Bernstein, David J. Coman, Alison G. Compton, Kerith-Rae Dias, Frances Elmslie, Jamie Fraser, Lyndon Gallacher, Anne Goriely, Christina L. Grant, Tobias B. Haack, Anjali G. Hinch, Matthew E Hurles, Elsa Leitão, Anna Le Fevre, Sarah J Lindsay, Paul J. Lockhart, Taylor Maurer, Hector Mendez, Stephen Montgomery, Serena M. Neumann, Melanie O’Leary, Nikhil Pattani, Nicole Revencu, Rocio Rius, Jill A. Rosenfeld, Cas Simons, Penny Snell, David Thorburn, Eloise Uebergang, Pradeep Vasudevan, Matthew Wheeler, Zoe Wolfenson, Caroline Wright, Sebastian M. Fica, Christel Depienne, Joanna M. M. Howson, Stephan Sanders, Anne H. O’Donnell-Luria
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Nature
Verified
Integrated multi-omics for rapid rare disease diagnosis on a national scale - Nature Medicine
Ethics The Australian Genomics Acute Care study has Human Research Ethics Committee approval (HREC/16/MH/251). Parents provided informed consent for participation in the study, following genetic counseling. Study design and participants The Acute Care Genomics program is a national multi-site study delivering ultra-rapid genomic testing to critically ill pediatric patients with suspected genetic conditions.
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease - Nature Communications
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Abstract Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA biology. The TEFM gene encodes the mitochondrial transcription elongation factor responsible for enhancing the processivity of mitochondrial RNA polymerase, POLRMT.
By Lindsey Van Haute, Daniella H. Hock, Nicola Brunetti-Pierri, Nikeisha Caruana, Guy Helman, Henry Houlden, Guy Lenaers, Pedro Rebelo-Guiomar, Maha S. Zaki, David Thorburn, David Stroud, John Christodoulou, Claes Gustafsson, Michal Minczuk, Kiran Polavarapu, Mainak Bardhan, Rocio Rius, Cas Simons, Seena Vengalil
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Nature
Verified
'Maeve's law' would let IVF parents access technology to prevent mitochondrial disease. Here's what the Senate is debating
Mon Feb 14 Written by David Thorburn, co-Group Leader, Brain & Mitochondrial Research, Murdoch Children's Research Institute The Senate is this week debating “Maeve’s law” – a proposal to legalise access to new assisted reproductive techniques that will reduce the risk of parents passing on mitochondrial disease to their children. Maeve with her mother Sarah Hood.
'Maeve's law' would let IVF parents access technology to prevent mitochondrial disease
Credit: Louise Hyslop & Mary Herbert, Univ. Newcastle upon Tyne The Senate is this week debating "Maeve's law"—a proposal to legalize access to new assisted reproductive techniques that will reduce the risk of parents passing on mitochondrial disease to their children.
'Maeve's law' would let IVF parents access technology to prevent mitochondrial disease. Here's what the Senate is debating
The Senate is this week debating “Maeve’s law” – a proposal to legalise access to new assisted reproductive techniques that will reduce the risk of parents passing on mitochondrial disease to their children. Maeve with her mother Sarah Hood.
Film Is for Everyone with Prof. David Thorburn
Film Is for Everyone with Prof. David Thorburn Episode Summary In this episode, Prof. David Thorburn, who has spent his career challenging conventional assumptions about what kinds of works have artistic merit, speaks eloquently about why popular art forms like film and television belong in the classroom. Episode Notes What would Shakespeare have made of today's popular television shows? He might or might not like them, but he wouldn't dismiss them simply because they're popular.
Major cause of rare genetic mitochondrial disease identified
Journal/conference: Med DOI: 10.1016/j.medj.2020.06.004 Organisation/s: Murdoch Children's Research Institute (MCRI), The University of Melbourne, Monash University, Telethon Kids Institute, The University of Western Australia, University of Sydney, Garvan Institute of Medical Research, The University of Queensland Funder: The research was supported by grants and fellowships from the Australian National Health and Medical Research Council (NHMRC) [1164479; 1155244; 1068278; 1140851], the US...
3-parent IVF could prevent illness in many children (but it's really more like 2.002-parent IVF)
Mon Nov 11 Written by David Thorburn, co-Group Leader, Brain & Mitochondrial Research, Murdoch Children's Research Institute Mitochondrial donation is an assisted reproductive technology sometimes described as “three-parent IVF”. It’s designed for women at high risk of passing on faulty mitochondrial DNA and having a child with severe mitochondrial disease.
3-parent IVF could prevent illness in many children (but it's really more like 2.002-parent IVF)
Mitochondrial donation is an assisted reproductive technology sometimes described as “three-parent IVF”. It’s designed for women at high risk of passing on faulty mitochondrial DNA and having a child with severe mitochondrial disease. Mitochondrial diseases comprise at least 300 different genetic conditions which affect the energy-producing structures within human cells, impacting organ function.
3-parent IVF could prevent illness in many children (but it’s really more like 2.002-parent IVF)
Mitochondrial donation is an assisted reproductive technology sometimes described as “three-parent IVF”. It’s designed for women at high risk of passing on faulty mitochondrial DNA and having a child with severe mitochondrial disease. Mitochondrial diseases comprise at least 300 different genetic conditions which affect the energy-producing structures within human cells, impacting organ function.
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology
Ann E. Frazier‡, David R. Thorburn‡,§ and Alison G. Compton‡1 From the ‡Murdoch Children's Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, and §Victorian Clinical Genetic Services, Royal Children's Hospital, Melbourne, Victoria 3052, Australia ↵1 To whom correspondence should be addressed: Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria 3052, Australia.
MIT SHASS: Bookshelf
When People Want Punishment Lily Tsai Cambridge University Press, 2021 Against the backdrop of rising populism around the world and democratic backsliding in countries with robust, multiparty elections, this book asks why ordinary people favor authoritarian leaders.
Mitochondrial dysfunction in diabetic kidney disease
Key Points The kidneys are highly metabolic organs, and their function is tightly coupled to mitochondrial energy production Kidneys share their reliance on mitochondrial energy production with other organs that are similarly susceptible to diabetes complications, such as the heart and nervous system Dysfunctional mitochondria are present in nondiabetic kidney disease and in diabetic kidneys; defects include impaired respiratory chain function, structural and networking abnormalities,...
Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology
Inherited disorders of oxidative phosphorylation cause the clinically and genetically heterogeneous diseases known as mitochondrial energy generation disorders, or mitochondrial diseases. Over the last three decades, mutations causing these disorders have been identified in almost 290 genes, but many patients still remain without a molecular diagnosis.
The Film Experience
This course concentrates on close analysis and criticism of a wide range of films, from the early silent period, classic Hollywood genres including musicals, thrillers and westerns, and European and Japanese art cinema. It explores the work of Griffith, Chaplin, Keaton, Capra, Hawks, Hitchcock, Altman, Renoir, DeSica, and Kurosawa.
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