Research into mitochondrial disease (mito) is a core pillar of Mito Foundation's work. Only through research will we one day find treatments and cures for mito. Find out more about our research and medical grant program.
We recently awarded Dr Sandra Staffieri a Project Grant. This grant type supports high-quality research into mito. Dr Staffieri will focus on a type of mito called Leber Hereditary Optic Neuropathy (LHON). She will work with Professor David Mackey, Ms Lisa Kearns and Dr Joanne Mosen to understand the experiences of people with LHON, as well as those of their parents and siblings.
Dr Mosen is a mito community member with LHON. She will work with Dr Staffieri to ensure inclusiveness and sensitivity during this research study.
This project will give a voice to the LHON community by documenting their experiences. Insights from this project can be used to educate health professionals and help advocate for LHON-related issues.
Read our interview with Dr Sandra to find out more about her work, this project and its benefit to the mito community.
When did you first begin your work in mito research, and what attracted you to this field?
I have been indirectly involved with research relating to Leber Hereditary Optic Neuropathy (LHON) since I first started my research career with Professor David Mackey and Lisa Kearns at the Centre for Eye Research Australia in 2007.
Over the years I have come to know and understand more about LHON as a mitochondrial disease and the quite significant impact it has on people affected with LHON vision loss, or their family members. In my career, my clinical experience has largely been limited to people who are blind or vision impaired from infancy or childhood, so the devastation of sudden, extreme vision loss in early adulthood is not lost with me. I am very interested in understanding eye problems and their impact from the perspective of the person/people it affects.
In the time that you’ve researched mito, what are some of your findings that will help the mito community?
I was very involved in the recently published landmark study led by Professor David Mackey and Dr Isabel Lopez-Sanchez. By reviewing and counting all the people across almost 100 Australian and New Zealand multi-generational families, we evaluated/calculated how likely a person was to actually lose their vision if they had one of the gene changes that cause LHON vision loss.
This study adds to the body of evidence that will help guide clinicians to provide individuals with more accurate information regarding their risk of losing their vision. For many, this can help with life-changing decisions or allay their concerns.
Are there studies or projects that relate to your work or have inspired you?
I have participated in studies that examined the lived experience of people with retinoblastoma (childhood eye cancer) and childhood glaucoma. These studies included in-depth interviews and revealed themes that resonated with me, namely: living as a blind person; knowing they risk passing the same condition on to their children and the complex decision-making process that goes with that; the impact of multiple interventions to save vision or improve vision. Even though childhood glaucoma and retinoblastoma are completely different eye diseases to each other — or even compared to LHON — the lived experiences of the affected individuals were similar to the stories I had heard having incidentally engaged with people affected by LHON.
How has Mito Foundation helped in your research journey?
Mito Foundation has made my study possible. For years I have listened to people affected by LHON talk about protracted diagnostic journeys, concerns about whether they would go blind or living with a time bomb, the guilt of passing on a genetic eye disease and navigating the health system. This study comprises of two parts: In Part 1, we will interview people of diverse gender/ethnicity/disease affection or risk to understand their lived experiences. From these interviews, we will be able to extrapolate common themes and sub-themes. In Part 2, we will develop a survey that will be disseminated more broadly to the LHON community. This will serve to establish the generalisability of the themes and sub-themes we identify in Part 1.
How will your project help people impacted by mito?
This project will provide people directly or indirectly affected by LHON with a voice. Currently, we only have anecdotal evidence from people in the LHON community about their experiences. Documenting their experiences in a research context will provide the evidence we require to advocate more strongly to improve awareness about LHON within the community and amongst health professionals as well as promote the development of and access to resources that support living well with LHON blindness.
How have/will you engage with the mito community for this project?
Our research group are the custodians of the largest cohort of people affected by LHON in Australia/NZ and likely the world. We will draw on people within the LHON community who have previously participated in our research on LHON for Part 1 of the study. For Part 2, we will seek to promote access to the survey via the Mito Foundation* directly and social media channels.
Does anyone on your team have a personal connection to LHON?
Yes. Professor David Mackey completed his MD thesis 30 years ago on LHON and is a world-leading expert on the disease, having devoted much of his research career on this eye disease. Ms Lisa Kearns is a qualified orthoptist and associate genetic counsellor and like Professor Mackey, knows many of our LHON cohort personally and have followed their journey.
Dr Joanne Mosen is a clinical researcher who is blind from LHON. Dr Mosen’s insights will be critical to ensure inclusiveness and sensitivity in all aspects of our research study.
What else have you seen in the field of mito research that may excite the community?
I think Maeve’s Law is a turning point in mito research. It tells the mito community that they are not forgotten, their experiences are important — even if the condition is rare.
*Join the Mito Registry for opportunities to take part in relevant studies and clinical trials. Being part of the Mito Registry means that you can contribute to ground-breaking medical advancements which lead to a brighter future for the entire mito community.