One of the biggest events in the rare disease calendar – the Huntington Disease Society of America annual convention – is taking place this week, the first one for me since I had the exciting and humbling privilege of becoming the interim Head of Rare Diseases at Roche pRED (Pharma Research and Early Development). Major milestones like this give everyone in the rare disease community an opportunity to look forward towards the great innovations of tomorrow, but it’s also a chance to reflect.
Like so many people involved in the fight against rare diseases, my involvement is personal: my youngest daughter was diagnosed at the age of 2 with Leber’s congenital amaurosis, a rare genetic disorder that is causing her to lose her sight. Having no effective treatment options available was a source of great frustration, but it also spurred me to act. I sought to be a part of a team focused on researching and developing therapies for rare diseases because I knew I needed to do something – if not for my daughter then for other children like her.
I am fortunate that the years since then have coincided with some of the greatest ever leaps forward in our understanding of rare diseases, and the progress with new technologies and new ground-breaking therapies in recent years has been astounding. But there’s still so much more we can do.
Pushing new frontiers of science
In my time at Roche, I have been impressed with the company’s willingness to embrace new technologies and push new frontiers, and that it truly has science at its core. It’s a company that really understands that progress first requires deep insight, and I’m proud that the pRED organization contains some of the brightest and most talented researchers and drug developers in the world.
Importantly, they have permission to fail, and learn. That is so vital for good scientific research – it’s the failures that drive the learning and understanding, which eventually lead to the one piece of the puzzle that provides a genuine breakthrough.
But however amazing our scientists are, they can’t do it alone. There are more than 7,000 different rare diseases in the world today, spanning a wide variety of biologies and genetics. As an organization, it’s so important that we understand where we can make the biggest impact and then find the scientific expertise, the deep disease knowledge that already exists, to expedite the development of potential new therapies.
That means partnerships and collaborations.
Partnerships mean progress
Whether it’s academic labs or patient advocacy groups, biotechs or businesses, we aim to form the right partnerships at the right time for the biggest impact for patients. Our partners bring with them extensive knowledge of the disease, the appropriate animal models and novel technologies. We can provide the global footprint, the speed, and the know-how to turn an idea or concept into a drug. These disorders may be rare, but they’re not isolated; we are able to implement clinical trials all over the world and – post-approval – enable the broadest access possible to these life-saving medicines.
While we cannot focus on all 7,000 rare diseases, we will enter new areas if the science, business rationale and patient need are all there. Our work in Huntington’s disease is a great example of where the science is compelling and the potential for impact for patients and their families is profound. We know that Huntington’s disease is caused and driven by an expanded repeat in the huntingtin gene. Our approach is to tackle it here, at the underlying genetic cause, aiming to reduce or eliminate the mutated huntingtin protein that is causing the neurodegeneration. The science is there, the approach is there, the partnerships are there – for example, our collaborations with Ionis, Huntington Disease academic leaders, and the CHDI Foundation – to have the potential to make a real difference.
At the center of all of our partnerships in rare diseases are the patients and their families. They are the experts. Not only do those affected by rare diseases have to live with the condition and its consequences day in, day out, but many groups of patients have often already mobilized and facilitated early research. I know this well from first-hand experience, fundraising with other families affected by RDH12 Leber’s congenital amaurosis to try to build a research program in this area from the ground up.
I also understand what it must be like for those families affected by rare conditions that we are currently investigating – such as Huntington’s disease, Angelman syndrome and spinal muscular atrophy (SMA) – waiting, hoping for a medical breakthrough that could profoundly change the course of the disease. We know there are many families out there depending on our success. What I can say to those families is that we take this responsibility seriously. When we enter a disease area, we do it with the intent to deliver a truly transformational therapy, and change patient lives for the better.
That motivation drives me – and the whole pRED team here at Roche – every single day.
If you have an idea for collaboration or an interesting technology, or if you have an asset in one of our areas of interest, we would like to hear from you.
Find out more about our work in rare diseases here.