A coffee with the Scientific Advisory Board: Prof. Dr. Shamima Rahman

1. How did you first hear about Khondrion and the work the company is doing in mitochondrial disease?

I first heard about Khondrion from CEO Jan Smeitink shortly after he founded the company. Over the years I have received regular updates from Jan and followed Khondrion’s progress with interest. I was delighted when Jan asked me to join the company’s Scientific Advisory Board to help advise Khondrion as it develops treatments for mitochondrial diseases.  

2. Tell us about your career and how you started in the mitochondrial disease space.

I trained in medicine at Oxford University and in paediatrics at the Bristol Royal Hospital for Sick Children in the UK. Whilst in Bristol, I was involved in the care of one of the first patients found to have a large-scale deletion of the mitochondrial DNA by the late Professor Anita Harding and her team at the National Hospital for Neurology, Queen Square, London.  Subsequently, I met many more children with mitochondrial disease in my role as senior house officer in the metabolic unit at Great Ormond Street Hospital for Children in London. During this time, I became aware of the extreme difficulties faced by affected children and their families, with genetic diagnoses being very infrequent at that time and no possibility of curative therapy. Thus, when the opportunity arose to undertake a year’s research at the Royal Children’s Hospital in Melbourne, Australia, I had no hesitation in accepting, and made my focus mitochondrial disease.  During my year in Australia, I worked to understand the biochemical and genetic basis of a form of mitochondrial disease known as Leigh syndrome, studying all the cases diagnosed in Australia until that point in time. On my return to England, I completed paediatric training before undertaking a PhD on “The Molecular Basis of Cytochrome c Oxidase Deficiency in Childhood” at University College London (UCL). Following my PhD, I founded the Mitochondrial Research Group at the UCL Great Ormond Street Institute of Child Health, with a mission to discover the genetic basis of, and develop novel therapies for, mitochondrial disease in childhood.

3. How will you and your colleagues on the Scientific Advisory Board be helping Khondrion to achieve its goals?

The members of the Scientific Advisory Board aim to provide insight into emerging science and technology in the field of mitochondrial medicine, and strategic advice to Khondrion about the potential medicines they have in development and effective clinical trial design.

4. What are some of the biggest challenges in the mitochondrial disease space today?

Next generation sequencing has led to significant improvements in genetic diagnosis for people affected by mitochondrial disease, but some patients still face significant diagnostic challenges and further improvements are needed in this area. However, the biggest ongoing issue I see, is the urgent need for novel therapies that have been proven to be effective in well-designed and executed clinical trials. Another issue which needs to be addressed is the long route to approval for novel therapies.  

5. What other mitochondrial disease projects are you interested in/working on?

My research team continues to perform natural history studies, search for novel biomarkers and evaluate pharmacological and gene therapy strategies for mitochondrial disease. I am interested to work with colleagues across the globe to develop robust outcome measures, conduct well-designed clinical trials and deliver effective therapies to the mitochondrial disease community.

6. What is your coffee order?

An oat flat white, please.