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About
Dr Isabel Lopez Sanchez
Head of Mitochondrial Biology and Disease
Dr Isabel Lopez Sanchez leads CERA’s mitochondrial biology and disease research, with a focus on Leber’s hereditary optic neuropathy (LHON).
Dr Isabel Lopez Sanchez
Head of Mitochondrial Biology and Disease
BSc, PhD
Dr Isabel Lopez Sanchez is a Principal Investigator at CERA, leading research into mitochondrial biology and disease.
She pursued undergraduate education in France and the USA and obtained her PhD in 2014 from the University of Western Australia in Professor Aleksandra Filipovska’s group. During her PhD she characterised some of the mechanisms that regulate mitochondrial gene expression in humans.
She joined CERA after completing her doctoral studies and has conducted postdoctoral research in the USA, Spain and Sweden.
Dr Lopez Sanchez’s research focus is on human mitochondria and how defects in mitochondrial genetics and metabolism contribute to disease. Her expertise includes biochemical, molecular and cell biology approaches to investigate the mechanisms that mediate protection and pathogenesis in common neurodegenerative disorders, including optic neuropathies.
Her work is currently supported by a Mito Foundation Fellowship (2020-2022) to investigate the protective pathways that prevent vision loss in Leber’s hereditary optic neuropathy.
Key research questions
- What are the cellular and molecular changes that occur in LHON?
- What genetic and environment factors protect or trigger vision loss in people with LHON?
Current projects
Selected publications
Key collaborators
Funding and support
Current projects
Investigating markers of mitochondrial disease in optic neuropathy
This project aims to characterise biomarkers of mitochondrial disease identified through transcriptomics analysis from human patient samples
Optic atrophy gene discovery
This project aims to identify novel disease-causing genes in patients affected by vision loss due to unknown genetic causes
Generation of retinal models of mitochondrial optic neuropathy
This project aims to use stem cell technology to develop disease-relevant models of mitochondrial optic neuropathy in vitro
Identifying mechanisms of mitochondrial gene expression regulation
This collaborative work aims to understand the mechanisms that regulate mitochondrial gene expression and their links to human disease.
Selected publications
Lopez Sanchez MIG, Van Bergen NJ, Kearns LS, Ziemann M, Liang H, Hewitt AW, et al. OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy. Mitochondrion. Accepted July 2020. doi.org/10.1016/j.mito.2020.07.003
Lopez Sanchez MIG, Cipullo M, Gopalakrishna S, Khawaja A, Rorbach J. Methylation of Ribosomal RNA: A Mitochondrial Perspective. Frontiers in Genetics. 2020;11(761). doi.org/10.3389/fgene.2020.00761.
Singh LN, Crowston JG, Lopez Sanchez MIG, Van Bergen NJ, Kearns LS, Hewitt AW, Yazar S, Mackey DA, Wallace DC, Trounce IA. Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4598-4602. doi: 10.1167/iovs.18-25085.
Lopez Sanchez MI, Crowston JG, Mackey DA, Trounce IA. Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies. Pharmacol Ther. 2016 Sep;165:132-52. doi:10.1016/j.pharmthera.2016.06.004.
See more publications
Key collaborators
- Prof David Mackey (University of Tasmania), Lisa Kearns (CERA, RVEEH), Linda Clarke (CERA), Sandra Staffieri (CERA, RCH)
- A/Prof Joanna Rorbach (Karolinska Institute, Sweden)
- A/Prof Ian Trounce (CERA)
Funding and support
Thank you to the following organisations for their support:
- Mito Foundation, Australia; Research Fellowship (2020-2022)
- STING Stockholm-Melbourne Grant (2020-2021)
- The Wenner-Gren Center Foundation for Scientific Research, Sweden; Wenner-Gren Foundation Fellowship (2019)
Contact Dr Isabel Lopez Sanchez
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