Following on from Peter Bickley, Dr Ruxandra Mutihac volunteered to present her research at the Newport Spring Conference earlier this year. Here she gives an insight in to her work at Oxford and her experience of the day.
This April, I had the privilege of giving the research talk of the day at the MND spring conference in Newport, Wales. I was delighted to be given the opportunity to share with people living with MND and their carers the research I am doing at Oxford University on stem cell derived motor neurones. During the day I was completely taken aback by everyone’s interest and enthusiasm on the subject.
My presentation revolved around the research I have been doing for the past year on investigating what goes wrong in MND motor neurons. We start by collecting skin cells from patients which we then ‘turn back in time’ to stem cells using well-established techniques at the Oxford Stem Cell Facility. Once the cells are reprogrammed into stem cells, we direct their fate towards motor neurons using certain cocktails of signalling molecules.
The motor neurons we obtain at the end of this process represent a perfect disease model as they carry the genetic background of the patient’s original skin cells, providing us with a very powerful tool to investigate the factors that bestow disease susceptibility. In our motor neuron cultures, we found several disease-related impairments in the cells from patients carrying the newly discovered C9orf72 mutation, which I mainly talked about in my presentation.
C9orf72 is the most common cause of the rare inherited form of MND. You can find out more about inherited MND here.
From the lab to the real world
At times, working in the lab on understanding MND at the cellular level can be very remote from the reality of MND and its effects on the daily lives of people living with MND. The spring conference I attended was a very enriching experience for me, giving me the chance not only to share my research findings, but also to learn more about other aspects of MND from people living with MND, their families and carers. Also, their willingness to contribute to our research has given me much hope that by joining our efforts together between researchers and patients we can accelerate the process of understanding this disease and finding a cure.