How did you cross paths with Khondrion?
I heard about Khondrion from international colleagues and was made aware that this company was focused on developing drugs to treat mitochondrial disease. There is a major need for the development of effective drugs to prevent and treat mitochondrial disease so I am hoping that Khondrion can develop such a drug for the patients who so desperately need new treatment options.
- How will the SAB help Khondrion to achieve its goals?
The role of the SAB is to help provide independent oversight and advice to the executives at Khondrion. Ensuring that Khondrion is taking the best steps in progressing sonlicromanol through clinical development to bring this treatment to patients is our main focus.
- Tell us about your career and how you started in the mitochondrial disease space.
I began my research as a junior doctor when I became interested in why a patient developed muscle pain during exercise. This led me to start my studies on mitochondria and disease which have continued to fascinate me to this day. My PhD studies focused on understanding the molecular mechanisms in mitochondrial disease “Mitochondrial Cytopathies: Clinical and Experimental Studies”.
I completed my training as a clinical neurologist whilst still pursuing my research. In 2007, together with colleagues in Newcastle, London and Oxford, we developed the NHS Highly Specialised Service for Mitochondrial Diseases enabling patients from all over the UK to access clinical and diagnostic expertise in the three centres. We also developed a large national cohort which enabled us to study the natural history of patients with mitochondrial disease and develop clinical guidelines. Together with outstanding colleagues in Newcastle, we were able to obtain major funding to create the Wellcome Centre for Mitochondrial Research that has a major focus on transforming the lives of patients with mitochondrial disease by combining basic and clinical science.
- What do you see as the biggest challenges in the mitochondrial disease space today?
As a clinician who has looked after hundreds of patients with mitochondrial disease, I think the major challenge is the treatment of mitochondrial disease. Over the past few years, the diagnostic conundrums of mitochondrial disease have largely been resolved by the revolution in DNA sequencing, but for the majority of patients with mitochondrial disease there is no effective disease-modifying treatment to have been confirmed by clinical trial data.
- What other mitochondrial disease projects are you interested in?
Developing new treatments is in part dependent on a greater understanding of the pathogenesis of mitochondrial disease especially in human tissues. Recent advances in imaging and molecular genetic techniques allow much greater insight into disease mechanisms and will have a significant impact on drug development in the field of mitochondrial diseases.
- What is your coffee order?
A decaffeinated Americano with hot milk.