A new frontier in the fight against rare diseases
On Rare Diseases Day 2019, the University of Oxford and Harrington Discovery Institute at University Hospitals have announced a new affiliation to advance therapies for rare diseases.
The Oxford-Harrington Rare Disease Centre will bring together the capabilities, resources and expertise of both institutions to deliver new treatments for rare diseases, for which therapeutic options are lacking.
More than 350 million people worldwide are living with a rare disease, and approximately 50 percent of those are children. Here, we speak to Professor Matthew Wood, a professor of Neuroscience in the Department of Paediatrics, about his work and the advances that a new Rare Diseases Centre could herald for the future of rare disease and genetics.
Hi Matthew. Can you tell us a bit about your background and research area?
Originally, I trained in medicine and neuroscience and neurology, and my own research over the last 20 years has been into the development of new genetic therapies for rare disease of the brain and muscle — diseases we refer to as neuromuscular diseases.
A major focus has been on the fatal childhood neuromuscular disease Duchenne muscular dystrophy (DMD), where we have led the way internationally in development of the very first genetic therapies, initially approved at the end of 2016. This has opened up our work into development of gene-based treatments for many other related rare diseases and it has also allowed us to develop real expertise and international leadership in rare diseases more generally.
During the course of this work we have worked with many academic and industry partners around the globe as rare disease research is a highly collaborative, multidisciplinary enterprise. We have also founded two spin-out companies arising from our work: Evox Therapeutics founded in 2015 and Pepgen founded in 2018 — with a third new spin-out on the way for 2019 called Myon Therapeutics.
Since 2012 I have had a leadership role in the Medical Sciences Division and am currently Deputy Head of Division, with major responsibility for innovation — including working with industry, developing spin-out companies, and working with Oxford University Innovation.
In terms of your own work, what are your motivations?
For my own work, my motivations are twofold.
One is purely scientific. Rare diseases are typically genetic diseases and therefore understanding how genetic defects lead to a particular disease, and how these defects can be optimally repaired or corrected is a major scientific challenge, but one, that with all our current technologies, is entirely achievable. The scientific and intellectual challenge is a major motivation, and the fact that we can make major progress is very satisfying.
The second aspect is more personal. I have at least one family member with a rare disease, and knowing particular people with such a disease is a major motivation. A huge motivation for me is meeting patients and being able to turn our scientific knowledge and progress into something that can make a tangible difference to their lives!
Rare diseases are individually rare but collectively common and affect all populations across the globe, so our efforts to develop new treatments (for instance treatments for DMD) have a global impact.
In my lab we are working on about five rare diseases at present. There are over 7,000 rare diseases which are collectively common, even though each disease is uncommon or rare. The major way in which we can have an impact on 7,000 diseases is not through my, or any one, laboratory but by working collaboratively on major activities to address the challenges posed by hundreds, if not thousands, of rare diseases. It is through the new Rare Disease Centre that we can now work on a much larger scale scientifically to have a much more significant impact on millions of patients. The centre will be a way of bringing together the work of around 300 Oxford scientists working with partners all over the world.
What does a day in your life look like?
One of the most exciting things about my work and current roles is that no two days are the same, and that innovation is highly rewarding.
A day might range from working with my own research team on a project to develop and test a new treatment for a rare disease we are working on, to working with funding agencies to support our work, to meeting with patient organisations and patients — directly helping them to understand what we are doing scientifically and how it could make a difference for them and understanding their needs.
We also work with our international partners to plan major initiatives in Europe or the US, including major industry partners and planning major studies, giving talks at conferences and meetings to explaining to people the importance of rare disease research and how we can develop new treatments.
What do you hope the Centre will mean for the future of rare disease discovery and treatment?
We are on the threshold of making major impact into the treatment of rare diseases — we now have the understanding brought by genetics and many new technologies at our disposal in terms of possible new types of therapy.
The challenge is that there are probably somewhere between 7,000 to 10,000 rare diseases, and 95% currently do not have a treatment. The challenge, and mission, of the new Centre is addressing how we develop treatments for 7,000 rare diseases as quickly and as effectively as possible. Over the next five to 10 years we hope we will make a major impact on this challenge, and lead the way globally in the development of new treatments.
This presents us with a difficulty; that if we are to be successful quickly we cannot carry on working in a linear way, focusing on one disease at a time, as it will take hundreds of years to develop all the treatments we need. Therefore, I also hope the new Centre will provide a new scientific model and global leadership for how we can work different in a new way so we can impact hundreds, if not thousands, of new diseases over the next 10 years or so. Many of these advances will be centred around computation/AI and bringing multiple scientific disciplines together within the new Centre — from computation to chemistry, to drug development, to clinical experts and the patients themselves all working together.
What impact do you hope the Centre will have on researchers and patients?
I’m hoping the new Centre will have a major impact. We are hoping it will provide the very best scientific environment for the very best researchers to work together from a wide range of backgrounds and disciplines in order to do science that will have a major impact on patients’ lives.
The entire focus of the new centre is on patients with rare diseases — many of which are fatal, affect children and do not have any form of treatment currently. Our goal therefore is to work with patient organisations in partnership exploiting all of our genetic knowledge and ability to develop new treatments to do this as quickly and effectively as possible to make a difference to patients’ lives.
If we achieve our goals, the impact will be massive. We will not be working on a small number of diseases, but developing new ways to address the therapeutic needs of thousands of patients with rare diseases around the globe.
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