Research into mitochondrial disease (mito) is a core pillar of Mito Foundation's work. Only through research will we one day find cures for mito and advancements to improve the quality of life for people impacted by mito.

Many hardworking researchers are committed to this goal, such as Dr Isabel Lopez Sanchez, who conducts outstanding research into Leber hereditary optic neuropathy (LHON).

We sat down with Dr Lopez Sanchez to find out more about her work and its benefit to the mito community.

Photo of Dr Isabel Lopez Sanchez

Dr Isabel Lopez Sanchez

Dr Lopez Sanchez, when did you first begin your work in mito research, and what attracted you to this particular field?

My passion has always been to understand how mitochondrial dysfunction causes disease – and how to prevent this from happening. I was personally drawn to investigate mitochondrial disorders as they are considered “rare” conditions. I have a family connection with rare genetic disease, and I have witnessed the lengthy road to diagnosis, everyday challenges and limited therapeutic options that people affected by this type of conditions experience, so I have an additional motivation to do meaningful research that helps people affected by mito.

I did my PhD with a passionate, pioneer of modern mito research, Prof Aleksandra Filipovska in Perth, Western Australia. I then moved to Ian Trounce’s Lab at the Centre for Eye Research Australia (CERA), in Melbourne where I applied my mito knowledge to research neurodegenerative disorders such as Alzheimer’s disease and glaucoma. In 2019 , I was lucky to receive a prestigious fellowship to do postdoctoral research at one of the best mito research centres in the world in A/Prof Joanna Rorbach’s group at Karolinska Institute in Sweden. Thanks to this, I learnt the latest laboratory techniques to investigate mitochondrial function.

Thanks to a Mito Foundation Research Fellowship, I came back to CERA and the University of Melbourne to start my own research group in February 2020. This meant I could dedicate 100% of my time to primary mitochondrial disease research. My focus is on Leber hereditary optic neuropathy (LHON), a primary mitochondrial disease that can cause sudden and irreversible blindness. I am very fortunate to work with a network of dedicated clinicians, scientists, and the LHON community in Australia and around the world. We aim to understand why some people with LHON mutations lose vision, whilst others preserve good vision throughout life. Unlike other mito conditions that affect multiple organs of the body, LHON affects only one cell type in the eye, which makes it a good model to understand more complex and severe mito diseases.

In the time that you’ve researched mito, what are some of your findings that will help the mito community? How will they impact the lives of people with mito?

Thanks to the Mito Foundation Research Fellowship, in 2020 we conducted an Australia-wide epidemiological study to identify all families and individuals with LHON mutations in the country (you can read it here). We identified 96 genetically unrelated LHON families, including 620 affected individuals and 5,000 asymptomatic carriers to date in Australia. We also updated the risk of vision loss amongst people with a LHON mutation, which was often reported as 50% for males and 15% for females. Instead, we found the risk of vision loss is lower –17% for males and 5% for females.

This work is important in two main ways. First, accurate knowledge of the risk of vision loss is essential for genetic counselling of LHON families, as many individuals make life-changing decisions based on estimates of disease risk. Second, our updated LHON Australian registry is essential to identify and match individuals for suitable clinical trials for therapies that may prevent or improve vision loss in this condition.

What else have you seen in the field of mito research that may excite the community?

There has been an explosion of exciting findings in the mito research community in the last 5-7 years. Starting with mitochondrial donation, which may become legal in Australia soon, to the use of stem cell technology to model mito diseases in a dish, all the way to gene editing techniques that may be able to correct mutations in the mitochondrial genome. In my own area of research, gene therapy has emerged as a potential option to prevent vision loss in some people with LHON. The mitochondrial field is a very exciting area of research and I hope many of the exciting findings will translate to patients soon.

How has Mito Foundation helped in your research journey?

My connection with Mito Foundation started in 2010 when I was a volunteer during my PhD studies in Perth. I am proud to have witnessed the growth and development of Mito Foundation into the critical hub it has now become. Mito Foundation not only provides vital support and education for individuals affected by mito, their families, and clinicians; it is also critical for supporting research.

My work would not be possible without the support of Mito Foundation and the well-established LHON community in Australia and overseas. Thanks to the Mito Foundation Research Fellowship, I was able to start my own research group to focus 100% on primary mitochondrial disease research. As a mid-career researcher passionate about mito research, the support provided by Mito Foundation is critical to enable people like me to continue focusing on primary mitochondrial research, which is rarely funded by mainstream funding sources in Australia.

What's next for you? Are there any potential breakthroughs on the horizon, and what needs to happen to bring those within reach?

I am currently working on a proposal to conduct a pilot clinical trial to investigate whether an easily accessible and affordable vitamin can improve vision loss in individuals with LHON. A similar approach has shown improvements in visual function in people affected by glaucoma – an age-related disease that affects the same cell type affected in LHON and also causes vision loss. This work builds on our recent update on the Australian LHON registry, which will make it much easier for us to approach people who fit the recruitment criteria of our study.

This clinical study will be run across three international sites and aims to address a critical issue in clinical mitochondrial research – a lack of experimental treatments for people affected by mito in Australia. We hope to obtain funding to support this clinical trial in the next 12 months. I feel very excited about the possibility to find a safe, efficient, non-invasive, and affordable therapy for people with LHON.