About
Dr Isabel Lopez Sanchez
Head of Mitochondrial Biology and Disease
Dr Isabel Lopez Sanchez leads CERA’s mitochondrial biology and disease research, investigating the molecular mechanisms underlying vision loss in optic neuropathies such as Leber hereditary optic neuropathy (LHON) and glaucoma.
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.
Her work bridges molecular biology, genetics and clinical research to understand the causes of vision loss. Trained in France, the USA and Australia, Dr Lopez Sanchez completed her PhD at the University of Western Australia and conducted postdoctoral research across Europe and the USA before establishing her independent research program at CERA.
Dr Isabel Lopez Sanchez’s research ranges from discovering new genes and proteins involved in genetic eye disease to identifying therapeutic targets for optic neuropathies such as Leber’s hereditary optic neuropathy (LHON) and glaucoma. Using human-relevant models — including post-mortem human retina and stem-cell-derived cells — she integrates molecular, epidemiological and patient-focused approaches to connect laboratory findings with real-world impact.
Her collaborative work on LHON in Australia was recognised nationally as a finalist for the 2025 Outstanding Patient Research Award (Patients Australia). She has also received multiple early-career and international research awards, including the Hitesh Peshavariya Award for Best Early Career Researcher (CERA) and a Wenner-Gren Fellowship (Sweden).
Key research questions
- Which molecular and genetic mechanisms drive retinal ganglion cell loss in optic neuropathies such as LHON and glaucoma?
- What new genes and proteins underlie vision loss, how do they influence mitochondrial and cellular function, and can these pathways be targeted to prevent or slow disease progression?
- What is the true epidemiology and clinical spectrum of LHON and related mitochondrial eye diseases across populations?
- How does mitochondrial and genetic eye disease affect individuals beyond vision, including systemic symptoms and quality of life?
Current projects
Selected publications
Key collaborators
Funding and support
Current projects
Identifying therapeutic pathways to prevent retinal ganglion cell degeneration
Investigating molecular mechanisms driving retinal ganglion cell loss in optic neuropathies such as LHON and glaucoma, with the goal of identifying molecular targets to slow or prevent neurodegeneration.
Using human models to study mitochondrial and genetic eye disease
Employing post-mortem human retina and stem-cell-derived cells to uncover molecular signatures of disease and cell resilience that can inform new therapeutic strategies.
Collaborative translational research in inherited vision loss
Working with national and international partners to study the systemic and quality-of-life impact of eye diseases and contribute to the development of gene-agnostic treatments for optic neuropathies.
Selected publications
Lopez Sanchez MIG, Kearns LS, Staffieri SE, Clarke L, McGuinness MB, Meteoukki W, Samuel S, Ruddle JB, Chen C, Fraser CL, Harrison J, Hewitt AW, Howell N, Mackey DA. Establishing risk of vision loss in Leber hereditary optic neuropathy. Am J Hum Genet. 2021 Nov 4;108(11):2159-2170. doi: 10.1016/j.ajhg.2021.09.015.
Lopez Sanchez MIG, Krüger A, Shiriaev DI, Liu Y, Rorbach J. Human Mitoribosome Biogenesis and Its Emerging Links to Disease. Int J Mol Sci. 2021 Apr 7;22(8):3827. doi: 10.3390/ijms22083827.
Lopez Sanchez MIG, Ziemann M, Bachem A, Makam R, Crowston JG, Pinkert CA, McKenzie M, Bedoui S, Trounce IA. Nuclear response to divergent mitochondrial DNA genotypes modulates the interferon immune response. PLoS One. 2020 Oct 8;15(10):e0239804. doi: 10.1371/journal.pone.0239804.
Lopez Sanchez MIG, Van Bergen NJ, Kearns LS, Ziemann M, Liang H, Hewitt AW, Mackey DA, Trounce IA. OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy. Mitochondrion. 2020 Sep;54:113-121. doi: 10.1016/j.mito.2020.07.003.
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.
See more publications
Key collaborators
- Professor David Mackey AO (University of Tasmania), Lisa Kearns (CERA, RVEEH), Linda Clarke (CERA) and Dr Sandra Staffieri AO (CERA, RCH)
- Associate Professor Ian Trounce (CERA) and Dr Sushma Anand (CERA)
- Associate Professor Joanna Rorbach (Karolinska Institute, Sweden)
Funding and support
Thank you to the following organisations for their support:
- Strategic Grant for Outstanding Women, The University of Melbourne (2026-2027)
- ARVO EyeFind Grant 2025
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