The Power in Connecting Rare Disease Patient Groups - Dr. Rick Thompson, CEO of Beacon for Rare Diseases





Shiv Gaglani: Hi, I'm Shiv Gaglani. We've heard many stories on Raise the Line about patients and their family members who, upon getting a rare disease diagnosis, build a non-profit organization from scratch to boost advocacy and research for the condition in question. This is obviously a pretty big hill to climb for people with no background in such things.


Well, today we're going to learn about a non-profit designed to help provide the expertise and support needed to get a rare disease patient group off the ground and to connect these groups with each other for the purpose of mutual education and support. I'm delighted to welcome Dr. Rick Thompson, who's the CEO of Beacon for Rare Diseases in Cambridge in the United Kingdom. Beacon was co-founded by one of our previous guests, Nick Sireau, whose two sons were born with the ultra-rare genetic condition Alkaptonuria, also known as black bone disease. 


Dr. Thompson has a background in evolutionary biology, research and education, and in his current work he's particularly interested in the issue of drug repurposing for rare



So, Rick, thanks so much for taking the time to be with us today. 


Dr. Rick Thompson: No, thank you, guys. I'm really excited to chat and get the invite. 


Shiv Gaglani: So, we like to start by asking our guests to just explain in their own words about their background. So, in your case, what first got you interested in natural sciences and evolutionary biology?


Dr. Rick Thompson: Yes, that's a good question. I think biology was always one of those subjects I've really enjoyed right from back in the school days. I like that connection between science and the life that you see as a person. You can connect the scientific things you're learning about to your own body to the processes you're seeing in the world, and some of those quite interesting things that are happening in the world around us. 


So, I think I always wanted to follow that through, and that led me to natural sciences at university, which let me keep things quite open. I really liked all the different types of biology, and I thought I was going to go all off into biochemistry and genetics because that's the thing that really attracted me early on. But then I kind of wound up at university and began to take a few courses in evolution, and it was a fascinating topic that kind of embraced the history of biology, where everything came from, and why things work the way they work and that was really exciting. There's a kind of a storytelling arc to it as well, a narrative that I always found really appealing, and it brought back that love of dinosaurs as a four-year-old, that kind of thing that threw into it as well. So, yeah, I find it a fascinating topic that explains why we're here as well as how it works, which I think was great. 


Shiv Gaglani: Yeah, one hundred precent, I agree. And it's a nice intersection of actual hardcore science -- the biology, the genetics -- as well as just socio-cultural aspects, as you mentioned. Why people migrated to where they did and how that impacted their genetics over time? 

Dr. Rick Thompson: Yes, absolutely, and it all feeds into this really complex way, which is great. I ended up doing this very complex, multidisciplinary kind of PhD route, which had things from paleontology through into molecular genetics, and to combine that together was quite exciting. So yes, that's where it came from. I think it remains a very exciting thing to learn about every now and again. 


Shiv Gaglani: Totally. That's fascinating. I would love to learn more about that. So now, switching gears to rare diseases, I can see how that gave you a good background in ultimately being able to contribute to rare diseases. But what got you specifically and personally excited about rare diseases?


Dr. Rick Thompson: It's one of those things where I wish there was a beautiful story about this link to evolutionary biology and seeing how that could feed into rare diseases, because obviously, it does, and I think it really does help the work I do. But it's one of those cases where it was a bit of a chance occurrence that came up and brought me into this space, which is actually probably more common in the rare disease world. 


I finished my PhD and I wanted to stay in the city I was in. There happened to be a job with this charity that I saw that looked interesting and that happened to be what was then known as Findacure, a rare disease charity. What I was looking for at the time was a role that connected me more with people and a role that allowed me to try and deploy and use my scientific work in a way that was more relevant to the world around me. 


You get into a place doing a PhD sometimes where there's like one of eight people in the world that care about your topic and I think after so many years, I got a bit tired of that. So, I was looking for something that happened to be a charity that was looking to support people in rare conditions and as it so happens, in hindsight, that was a brilliant match for someone with the broad scientific knowledge I've got and that desire to talk to a diverse community of people. 


Shiv Gaglani: Totally. That's something I found having done work now in the rare disease space for a while. So, tell us a bit more about what is now known as Beacon. What has it been focused on and what has its evolution been like? 


Dr. Rick Thompson: It has been a bit of an evolution over the last few years. But broadly speaking, we've always had an ethos at what is now Beacon that we want to break down this isolation that people living with rare diseases feel. What we know is that at the point of diagnosis, it can be a hugely scary event and isolating event for people living in rare conditions, often because the clinician themselves will know very little about it and people are told, you know, you're not going to meet anyone else in this condition in your life, you're kind of on your own to do the best you can. But constantly, the work we've seen, the work we're doing, is that people forming and building patient organizations can help really trigger a new community around that and help drive people forward and drive the field forward. 


Simply put, they can connect people with the same life experience, and that can really make life a much more simple and bearable thing for people living with rare conditions. It gives an idea of what the future might hold. We've seen groups that have driven forward entire research projects that have led to new treatments being developed. We've seen groups that have put in new clinical trials guidelines, new clinical practices in place, really transforming the field as a whole. 


What we want to do as an organization is help those patient groups to form, to grow, to professionalize their work and we try and do that by providing accessible training, to provide abilities to connect with other people -- whether that's in patient groups or in the life sciences space that can help them do the job -- and hopefully to help them build their confidence and knowledge and skills to really push things forward. So, it's quite broad work. It's really interesting work and it intersects with that societal side of things right through to the in-depth details of research and how you can actually help people contribute to research.


Shiv Gaglani: Yes, that makes a lot of sense. You mentioned a couple of groups that have had success being part of Beacon. That was actually one of the questions I was going to ask you is, we know Nick Sireau’s story with Alkaptonuria -- which is a tremendous one -- but what are some other examples of groups specifically that you guys work with and things that they've achieved in the process of being part of the group? 


Dr. Rick Thompson: Yes, the specific group thing is always a really hard thing to think back on. You start looking back through the groups you've worked with and just seeing what breadth there is. I mean, we worked with over 250 groups last year, which is brilliant diversity, and when I look back, there's a few different things you see. Just the formation of new patient groups is really exciting. 


There's a group recently we worked with for a few years called Stargardt's Connected. It's tied to an ultra-rare condition called Stargardt's Syndrome formed by a mother of a boy who was diagnosed -- that usual story -- who wanted to do something different to support the condition and to limit the visual degeneration he was likely to experience. We were really pleased that she joined the mentoring program and through that program founded a new patient group. Since then it has been helping to fund research, to drive things forward, to build a new community, which is brilliant. A couple of weeks ago, it was awarded the Prime Minister's Points of Light Award here in the UK. So, she was recognized for her role in founding this charity and driving the landscape forward by the UK Prime Minister, which is a really exciting journey which probably spanned four or five years. 


We've got multiple different groups now forming different patient registries trying to provide real, clear, captured data and information on the life history of people living with their conditions. Timothy Syndrome Alliance pops out to my mind of recently putting this together and actually built a brilliant video about the diagnostic experience for Timothy Syndrome patients. That's part of a Rare Disease Day campaign but they’ve been growing this registry for the last year as well. This is an ultra-rare condition with tens of patients, probably, globally. There's another group we do a lot of work with called Annabelle's Challenge, who focus on the rare disease type IV Ehlers-Danlos Syndrome. They've done a huge amount of work in the fundraising space, had a really big community fundraising effort, but have recently been pushing through their work directly with the NHS to build an improved service for people living with vEDS (vascular Ehlers-Danlos syndrome), especially Ehlers-Danlos, but then also to begin to push research forward in that space as well. 


All of these are examples of people we've done a little bit of work with here and there -- whether through mentoring, whether through workshops, some of them have trained for us, some of them have been trained by us -- and it's fantastic to see that kind of progress and how little parts of the work and engagement we've had have helped them move forward. I could talk for many hours about it, but I think what I’m just trying to reflect there is this breadth of journey that we see from people and the fact that they learn from each other is what's really encouraging. 


Shiv Gaglani: Yes, absolutely. That's one of the things I've also realized is that these stories are very similar although the actual diseases are in many cases very different. From the shock of the diagnosis to the diagnostic odyssey that we talk about, all the way to creating a clinical trial for different drug candidates, there are common elements to what rare disease patients go through. So, being able to learn from each other and get that hope, that beacon of hope that we talk about, is extremely helpful psychologically for many of these patients too. And these stories like John Crowley who we had on the podcast, Nick Sireau, many others, gives that hope to a lot of these groups and I'm sure you guys do the same.


Dr. Rick Thompson: Completely, and, you know, Nick's story is an amazing one. It's one you want to tell as many times as possible, but it's a case where things were in place and the right people were in place to drive it to this point of completion. Many groups we are working with are on that journey, and what we want to do is provide that support to them every step of the way, essentially. So, whether they're just getting started or whether they're right at the end, we want to be there to help support that. It includes support for the individual patients for their mental health, but also supporting the people doing this leadership. 


It's not easy being a Nick Sireau at times, right? You have to be able to have someone to turn to to cope with the worry of, “are you going to get there?” I think a lot of the patient leaders we work with feel the pressure of that, the pressure of representing that community of people living with that same condition. We're seeing more and more of them connecting with each other and sharing their experiences despite the great differences between the conditions themselves that they're representing, which I think is really encouraging and hopefully moves us closer to a place where there is more of a unified rare disease community rather than lots of different rare diseases, which I think is something we'd love to get to in the not so distant future. 


Shiv Gaglani: Totally. Especially given how many people are directly affected, right? The estimate is over 300 million people around the world have the 7,000 plus rare diseases

directly, plus hundreds of millions more family members who have to help with the care. Another thing that’s interesting is that Elsevier started working with Beacon when it was called Findacure many years ago. 


Dr. Rick Thompson: Yes. 


Shiv Gaglani: I think there was a hackathon done together with one of our colleagues, Tim Hoctor, and your team and then now we're back working together now that you're Beacon. I'm just wondering, from your perspective, how has that collaboration gone and what are some things that we, as a global publisher, educator and research group, can be doing to further

support the rare disease community in your eyes? 


Dr. Rick Thompson: That's a really good question. I think it's always been nice to see a company of this size and scale of Elsevier being interested in the rare disease space with what is, frankly, a small charity. Particularly when we first started that collaboration, we were a very small team. I think the ability to access the wealth of information, knowledge and skills that exist within that company for an organization like ours and a field like ours is really exciting. 


So, it was a real pleasure to work on that and see what potential there was in that kind of data and the analytics and the skills of the people within the company at the time, and it helps us think a lot about some of the repurposing projects we were trying to facilitate at that time and begin to move those forward. 


I think now at this stage, interestingly, we're at a place where this topic of repurposing is coming up again and becoming more prominent and more prevalent and I think the role that companies like Elsevier can play is only bigger because you can nucleate this community. You have access to a wealth of information, a wealth of connections around the world and can help to bring those people together to drive more projects forward and just highlight the importance of this topic of rare disease. 


We touched on already this concept of bringing a united rare disease community. I always think that there's no reason rare diseases can't be thought of like cancer, right? I mean, we think of cancer as a single challenge we're trying to beat. It's hundreds and hundreds of different conditions that happen to have the same broad expression, and we try and tackle in that same way, and there's a unified way to attack it. Rare disease can be that same thing. It's thousands of different rare diseases with different effects biologically, but fundamentally, most of them are genetic and most of them have very similar impacts on the daily life and life experience of living with a rare condition as a patient. If we can begin to tackle those problems as a unified cause, we're going to push things forward much better. 


Companies like Elsevier having an interest in this space, I think, can help spread that message and unify the field by highlighting connections between conditions and highlighting opportunities to push things forward and highlighting the way that whether it's one good researcher or one good patient group or one good idea, it can really make a big change to the people at the receiving end of that condition. 


Shiv Gaglani: Yeah. Actually, Elsevier has just launched an open access journal called Rare -- so they specifically created one just like our journals called Cancer, Cancer Biology -- that's going to have not just original research papers, but also patient perspectives and caregiver perspectives across different rare diseases. Hopefully, that will get us closer to that vision you mentioned, which is to think about rare conditions the way we think about cancer. Even though the conditions are often different, many of them are ultra-rare single gene mutations, and that’s why sometimes you get ultra-rare conditions because there are 20,000 genes in the body, and so any one of those could potentially be up-regulated or down-regulated depending on different genetic or epigenetic changes. 


Dr. Rick Thompson: Absolutely. Yes. And that sounds like a great initiative and brilliant to hear those different voices as part of it, because we really believe that you need to have all of the different perspectives in play and voiced and listened to, to drive things forward effectively in rare conditions. You need that patient, you need the clinician, you need the academic researchers, the industry...bring that together and you can absolutely solve the problems that any given condition is facing. 


Shiv Gaglani: Totally. So, you mentioned drug repurposing and one of the people we had on the podcast a couple of months ago -- and I just reintroduced him to you as well -- is Dr. David Fajgenbaum from the Castleman Network and now Every Cure. Tell us about drug repurposing in general and then your specific work on it, as well as any of the traction you're getting in Europe. 


Dr. Rick Thompson: Yeah, it's a big question, a big topic. David's obviously a fantastic representative of rare disease and of repurposing as a clinician. He’s an amazing guy to speak to and I'm looking forward to catching up with him again. Repurposing for me is something I've always worked on as part of this role, and it's very simple: it's recycling, essentially. It's finding new uses for old drugs. It's finding a different way, a more efficient way, to use the medicines that we already have out there to affect more people and provide more benefit to humans. 


In theory, it should be a really appealing thing to happen. But for a range of different reasons -- particularly in the space where drugs have gone off patent and are generic and widely available -- it's very hard to generate the right scientific evidence to allow these drugs to be frequently used for more different types of conditions. There's a market failure there, essentially, which is very frustrating, and I think it can slow research and limit opportunities for people that otherwise wouldn't have any form of treatment. 


So, for me, drug repurposing is something that I think we need to be pushing more and finding more ways to drive forward, particularly because it does offer a route -- theoretically, and in some cases in practice -- to get a treatment to people more quickly and more cheaply

than you would otherwise expect to develop a whole new treatment. It also opens up a route which is more accessible for research by patient groups or by a small group of academics to move things forward. It can allow us to work, therefore, in areas that are ultra-rare that might not have the commercial appeal to some of the really large pharma companies. So, that's why I think it's important.


As I say, we've worked on this for quite a few years, whether it's trying to think of new models to fund repurposing work or whether it's trying to drive forward and raise awareness about it. Over the last year, we've been part of a new European-level consortium, which is called Remedy for All. This is a platform that's been set up that's trying to drive and inspire people to do more repurposing research across Europe, which is really exciting. We're trying to provide a range of services, ideas, and expertise that will hopefully help to drive these projects forward in a practical way as well as an inspiration way. 


We're working with a few projects now and we've got skills in identifying repurposing opportunities. We've got patient group expertise. We've got clinical trial design expertise. We've got preclinical expertise. We've got regulatory expertise. The idea there is if you start a research project in a rare condition with a repurposed drug, we want to help you actually make sure that if it works, it can reach the patient and not just publish a paper and then not reach the patient, not deliver the patient impact.


So, it's a really exciting time for repurposing because I think there's more and more of these types of projects out there. The work David's been doing, the work we're hoping to do for Remedy for All...there's a range of different groups currently now trying to explore how we can use existing drugs more effectively, and a lot of that has been inspired by what we saw as a response to the COVID pandemic, trying to find drugs that can solve a big emergent threat very quickly. Well, repurposing does that and rare diseases need quick treatments and effective treatments, and repurposing is a pathway to do that. So, hopefully we'll make a big impact. We'll see what happens. 


Shiv Gaglani: Yeah, I'm super excited. We're trying to not only shed more light into this but to also, hopefully, get some of our listeners excited about leading some of these projects or participating in some of these projects. There's a lot of great human capital who listen to this podcast who might become the clinicians and researchers helping rare disease communities. 


The other thing to consider on repurposing is the rise of big data and AI, which is in the news every day. We had Matt Might on the podcast, who you may know from the Precision Medicine Institute at University of Alabama which uses AI. The work his lab does and the work Elsevier is doing with PharmaPendium, Intelligence and SciBite, among others, I think is pretty exciting. 


Dr. Rick Thompson: Really exciting, and there's so many new ways to get new ideas now. I think what we're hoping to do with projects like Remedy for All is to connect those new ideas to delivering to the patient and crossing what they call that translational research “valley of death” and finding a way to actually make sure we get through that to get a product that can reach patients, which is what we all want to see. And with such great ideas coming out from so many angles, if we could smooth that process, we're going to be in a very different place in twenty years’ time, which is really exciting, I think, for the whole field.


Shiv Gaglani: Totally. We launched the Year of the Zebra to call attention to rare disease this year because it is the fortieth anniversary of the Orphan Drug Act in the US. The hope is that over the next decade, when we celebrate the fiftieth anniversary of the Orphan Drug Act, we'll go from less than 1,000 approved drugs for rare disorders to hopefully orders of magnitude more than that because of organizations like yours and initiatives like Remedy for All and Every Cure, as well as the AI developments and connecting that directly to ScienceDirect and other scientific databases. 


So, we're coming up on time so I have just a couple more last questions.


Dr. Rick Thompson:  Sure. 


Shiv Gaglani: First is, most of our audience are current or future clinicians. I remember when we had Nick Sireau on the podcast, he was talking about a really influential clinician researcher named Dr. Ranganath at University of Liverpool, who really helped him and all patients and family members who have black bone disease and finding the treatment for that. I'm curious, what are some things that our audience could be doing as clinicians and researchers to most effectively contribute to the work Beacon does and that the rare disease community needs? 


Dr. Rick Thompson: It's a really good question, a big question. I think firstly, I have seen in the last eight years or so working in this field that if you can get that one clinician, that one researcher with a proper dedicational interest in your rare condition, you can really move the field forward very drastically. You've got to be the right person. But people like Ranga -- Dr. Ranganath -- people like Professor Tim Barrett in Birmingham, whose been driving forward research in Wolfram syndrome, they can go from there being nothing to screening a drug, to then setting up the first preclinical testing, to drive a clinical trial that can ultimately get you to the place where there could be a treatment in a rare condition. There's not a huge team around them. There's that core person that's driving it. I think that is something to be really aware of. 


For the people out there in the medical profession, there's a few different things that you can do from my perspective. Firstly, is to try and familiarize yourself with what are the red flags for rare disease diagnosis, if nothing else. There are certain patterns you can see in that diagnostic odyssey that get missed too easily, that could say to yourself, “Hang on, there's something odd going on here. There's a big picture that we're missing by looking at every little thing in isolation.” Can you identify the odd patient just going time and time again for re-diagnosis? Because if you can do that and intervene and push forward for some kind of genetic testing or actually a different look at this, you could transform someone's diagnostic odyssey from ten years or twenty years to a couple of years or a few months. That can make a huge difference to that individual and really demonstrate that you understand the importance of listening to that patient, listening to the person to get you to that place of good diagnosis. That's one thing I think anyone can do because that makes a huge step forward. 


I think the other thing is find that time just to make a little nod to rare diseases in your work -- pick one condition that's in your field that no one else you've heard in your field is talking about -- and just learn a little bit about that. Maybe find a patient group out there and just seeing if you can just provide them a little bit of help, give them a few hours a month just to sit on their science advisory board. You could really make a difference to that patient group when no one else is paying attention, and that little bit of expertise could be transformative to that rare condition. There's so much demand on physicians right now. There really is. But if you can find those few hours, I think you can really transform a space in a way that is very hard for you to do in those big sweeping grand health issues we're all talking about, whether that's in cancers or heart disease or whatever. Just find that one rare condition for a few hours. I think you’ll make a real difference.


Shiv Gaglani: Yeah, that's wonderful advice. That's really, really practical. It’s clear from the clinicians we've spoken to and other examples that have come up on these podcasts, that those clinicians who do take the time to do that, they could potentially discover a new way of looking at maybe the more common conditionsthat could lead to breakthrough discoveries. There are so many examples of that, like the familial hypercholesterolemia example leading to development of statins


But also just as far as burnout goes and feeling disengaged from the work, you have these individual discussions with rare disease parents and patients,and the amount of gratitude they have for you for doing this work is tremendous. They're the models for engaged patients and grateful patients. I think if other disease groups had patients as engaged or as committed to finding cures or therapies, we wouldn't have as many people suffering from diabetes or hypertensionor other preventable diseases. 


Dr. Rick Thompson: Yeah, I think it's an interest that gives back as well. You're going to really get opportunities to engage with people as people to understand their personal perspective of condition and illness in the health system and see how you can directly affect that very quickly.

I think it is quite enriching. I think those people that do latch onto rare diseases tend to get stuck there because of the experience they have and the breadth of knowledge they gain and experience they gain through doing it, which is exciting. There is no path in medicine for rare diseases and that's a challenge in itself. But I do think there's a huge amount of opportunity for people to enrich their careers and enrich their lives by engaging. 


Shiv Gaglani: Totally. We're almost at time. Is there any advice you want to leave our audience with about approaching their careers in health care and research and medicine in general?


Dr. Rick Thompson: A couple of things I thought of. Firstly, I think people are really important in the work you do and they help change the way you work. They can provide that sort of motivation behind what you're doing in medicine. Dive into medicine or research because you want to try and help people. So, try and find a way to connect with that audience as much as possible and hear them and give them a chance to tell you how you're helping and what help they need, because that really means you can direct what you're doing in a way that makes a lot of sense. Then the other one is just to try and be open to new opportunities and follow the most exciting opportunity. I didn't plan to be in rare diseases. I didn't plan to be in charities, but there was a nice opportunity that came in front of me, and I'm still here eight years later and enjoying life and doing something that I think matters. So, you really never know where opportunities can take you. If it excites you at the time, trust yourself, give it a go and dive in. 


Shiv Gaglani: Love that. Love that for sure. Final question. Anything else that we didn't cover that you want to leave our audience with?


Dr. Rick Thompson: Just very briefly, I think for the work we do at Beacon...it's all about those patient groups and where they can take you. As I've already said, take your time to try and join one of those groups and help them if you can. Recognize that those groups out there are so willing to do anything that they can do to help their community, but they are starved of resources, of time, of money. They're doing everything on a shoestring. When you interact with them, you’ll appreciate what effort they're putting in, what time they're putting in to try and tackle this. Most of these people are parents themselves, caring for someone with a rare condition and doing this in their free time -- the evenings and weekends -- and any little bit you can give to support that mission, if you're in that position, will be transformative to them. So, yeah, bear that in mind in those interactions and I think you can't go wrong with how you push forward with rare disease patient organizations. 


Shiv Gaglani: Awesome. Well, those are some great, great words to end on. So, Rick, thanks so much for taking the time to be with us on the podcast, but more importantly, for the work you've done over many years to help the rare disease community. 


Dr. Rick Thompson: Thanks for the chance. I've loved talking to you, and I'm really, really excited to see what comes from the Year of the Zebra. So, thanks. 


Shiv Gaglani: For sure. And with that, I'm Shiv Gaglani. Thank you to our audience for checking out today's show and remember to do your part to raise the line and strengthen our healthcare system. We're all in this together. Take care.