What first inspired you to get into science?
“My passion for science began when I was a teenager. I started conducting my own experiments growing peas under different conditions, eventually winning the Hungarian National Biology Competition.
During medical school, I carried out research on blood samples of Alzheimer’s disease patients, and that led me to complete an MD-PhD fellowship focusing on neuromuscular disorders. To enhance my training, I gained international experience in Oxford and Montreal, and it was these world-class research environments that really inspired me.
The 1990s was a pivotal time for mitochondrial disease research so, driven by the goals of finding a genetic diagnosis for patients and developing effective treatments, I decided to specialise in that area. It was an exciting field to work in and I set up specialist diagnostic centres first in Budapest, then Munich. I’ve worked on mitochondrial diseases ever since, and when the era of Next Generation Sequencing arrived and diagnosis improved, my research shifted to advanced cellular models including muscle cells and zebrafish.”
How are you advancing medical research in your current role?
“As a Professor of Neurogenetics at Cambridge and a project lead on the LifeArc Centre for Rare Mitochondrial Diseases, I’m fortunate because I’m able to combine clinical and laboratory research to improve outcomes for patients. Regular contact with patients enables me to address clinically relevant research questions, which I investigate in the lab using cellular models generated from patients’ cells and zebrafish studies.
Being an academic clinician in the Centre also enables me to translate the results of my laboratory research programme back to patients. I’m very lucky that the funding from LifeArc and MDUK (co-funder of our Centre) and The Lily Foundation research projects make it possible to precisely diagnose patients who couldn’t get a diagnosis via the NHS, and conduct early phase clinical studies in patients in collaboration with the UCL and Newcastle mitochondrial centres.”
What advice would you give your younger self?
“First of all, I would tell my younger self to explore multiple research areas and seize all opportunities. Working on other neurological diseases like peripheral neuropathies and ataxia, alongside mitochondrial disease, has enriched my scientific perspective and enabled me to continuously produce results and publish papers.
Secondly, I’d encourage her to embrace the challenges – setbacks are all part of the scientific journey and persistence usually leads to breakthroughs. And finally, securing funding and choosing the right research path can be challenging. I would tell my younger self to follow her passion and focus on research that’s exciting and has real-world impact. For me it’s always been important that my work is relevant and will increase knowledge to improve the lives of patients.”
If you could solve one scientific mystery, what would it be?
“There are still a few mysteries out there that I’d love to solve! The main one is probably to uncover how our mitochondria regulate immune responses and metabolic processes. This is likely due to their bacterial origin, but I’d like to study these mechanisms in cellular models and patients to try and explain some of the tissue-specific and variable symptoms in mitochondrial disease. Unlocking this could potentially lead to treatments that could alleviate symptoms for patients.”
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