Not Just Patients

Bolstering Rare Disease Research through Collaboration┃Jo Balfour

• Caitlin and Clarinda • Episode 12

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Join us for this special Rare Disease Day episode of Not Just Patients, where we speak with Jo Balfour, Managing Director and Co-founder of Cambridge Rare Disease Network (CamRARE), about research in rare disease.  

Jo is the driving force behind the CamRare's innovative events program, designed to raise awareness about rare diseases and encourage cross-sector collaboration. She manages the organisation's Companies Forum, a networking and knowledge-sharing platform for pharma, biotech, and life science companies, and oversees all other aspects of the charity's research and project work. Additionally, Jo founded the charity's regional rare disease community, Unique Feet, bringing families together in an inclusive and supportive environment. 

Listen to this insightful conversation where we discuss the unique challenges faced by people living with rare disease, overcoming barriers to rare disease research, and the value of collaboration between researchers and rare disease patient organisations.


Chapters

0:00 - Introductions
1:30 - Jo's journey into rare disease advocacy
7:07 - Challenges of living with a rare disease
11:34 - Challenges to rare disease research
15:58 - The numbers game and need for data
21:29 - Collaborating with patient organisations
28:10 - Navigating the rare disease advocacy landscape
40:12 - Initiatives supporting collaborative research
47:47 - Jo's dream for rare disease research
50:53 - Advice for researchers
51:14 - Advice for patient communities
53:50 - Reflections with Caitlin and Clarinda

Resources and abbreviations mentioned:

Have feedback or suggestions for us? We'd love to hear from you!
Website: notjustpatients.com
LinkedIn: Not Just Patients
Email: info@notjustpatients.com

Jo:

It's interesting there's so many opposites in rare diseases. You know, one minute we're saying there's not enough people and they're all scattered. The next minute we're saying there's too many organisations to deal with.

Caitlin:

Hi, I'm Caitlin

Clarinda:

and I'm Clarinda, and this is Not Just Patients

Caitlin:

A podcast where we break barriers to meaningful patient involvement in

Caitlin:

healthcare.

Clarinda:

Welcome to this episode today where we're celebrating Rare Disease Day. It's a special one for Caitlin and I, who are both rare disease patients, and we're in conversation with Jo Balfour, who is here to talk to us about bettering research in rare disease.

Caitlin:

As Managing Director and Co-Founder of Cambridge Rare Disease Network, or CamRARE, Jo oversees the strategic, creative and operational development of the charity's initiatives and is the driving force behind initiatives that raise awareness about rare diseases and encourage cross-sector collaboration. Additionally, Jo founded the charity's regional rare disease community, Unique Feet, bringing families together in an inclusive and supportive environment. She manages CamRARE's Companies Forum, a networking and knowledge sharing platform for pharma, biotech and life science companies, and oversees all the other aspects of the charity's research and project work. Jo's work at Cam RARE is fuelled by her deep desire to provide exceptional care, treatment and support to all those affected by rare diseases. Thank you so much for joining us today.

Jo:

Jo, thank you so much for the invite and in such a special month,

Caitlin:

it really is.

Caitlin:

So to start with, then what we'd really like to know is a little bit more about your story and how you got to work in rare disease advocacy.

Jo:

So it's probably a slightly unusual story. I know a lot of people move into the rare disease advocacy space because they're very constantly affected by rare conditions. I know a lot of people move into the rare disease advocacy space because they're very constantly affected by rare conditions. They have a child who's affected or another family member. But initially that wasn't my motivation. I was at the time working as an advisory teacher in Cambridge with young people in the care system, and prior to that I had worked in education in secondary schools across the country supporting young people with special educational needs.

Jo:

And a friend of mine in Cambridge had just finished his PhD and was exploring the idea of how he could better and more quickly and more efficiently and cheaply create treatments for people with wear conditions.

Jo:

He'd been inspired by a chap called Nick Sorrell-Hugh he's actually the father of two boys with a wear condition and he was exploring this concept of drug repurposing taking a drug that already exists and using it for a different reason and purpose. And, to cut a long story short, he was chatting to lots of people in the Cambridge area at the university, in the science parks, and patients too and just felt that it was such an underserved area which he'd known nothing about previously and the idea really was born for his next venture. But alongside it, the concept of bringing all these people together who seem to have a passion and desire to move things forward but didn't know about each other, to bring them together. And we got chatting about it one night and he just said we should set up a network. We could start with a conference. You know you can get everybody in the same space and start to to get them thinking about how they connect better together and where they might work together we might be able to move things forward.

Jo:

and I said to him, tim, why do you keep saying, what have I got to do with

Jo:

this? and he just says you're brilliant at organizing things, so maybe you could help help organize conference, help set up a charity, and at first I just thought I don't know where I fit in here. Anyway, I agreed. I agreed to have some brainstorming sessions and to think about this concept of a charity, a network, and you know the beginnings of a conference. And within that year we'd achieved all of those things. We'd set up a network as a charity with the help of an amazing woman called Kay Parkinson, whose two children actually passed away through a rare disease, and within two or three years I'd left my teaching job and had jumped ship and worked full time for Cam Rare.

Jo:

So you know, in those early days it was very much just about recognising something within me that I could bring to a really exciting area that seemed to be really making good strides forward, and to look at my home, cambridge, and see how we could really fit into this brander picture of accelerating treatments and diagnosis and better care. So it was all really quite semaglutinous and a bit of an accident. But then I think, like lots of people you know, you suddenly get to see the data. You realise that one in 17 people is affected by a rare condition. You think this can't actually be that new to me.

Jo:

And then I started to explore my own family, and you know, I have a nephew who had an ultra-rare cancer when he was a teenager one in only four people affected by it in the UK. I then discovered that my dad had three autoimmune rare conditions. But nobody had ever used that language with us before. Nobody had ever said this is a rare disease, though of course I did know people with rare conditions. My family was directly affected. I just didn't realize. So that's really where it all started.

Clarinda:

Wow, yeah, that is a powerful story and it is quite interesting that it all started from your desire to bring people together, because I think that's how I met you through the rare disease research network and we will be talking a lot about that later, I'm sure. But I mean, caitlin and I met each other and started this podcast from a desire to kind of bring people together to talk about issues related to patient engagement, and it's quite inspiring to see that, you know, there's that spark to bring people together that can evolve into such big things, and it's really exciting to see that you were able to achieve so much in that one year when you decided to make that very brave move.

Jo:

Yeah, I mean it was a brave move, because working for a charity it's not your dream. Secure job in lots of ways, you know, moving from a career where you've got a regular wage and you don't have to fundraise for that, and you have a pension and so on, it's quite a risk, but I just felt that it had so much potential and I had so many of my own, you know experiences in education that I could bring to this challenge, and I like to solve problems.

Clarinda:

Thanks, Jo. Thanks for sharing that. So we've spoken a lot about patient involvement in healthcare in general on previous episodes. That is pretty much the theme of this podcast. Today we'd like to focus this theme around rare diseases and what that might mean for rare disease patients and the nuances of that. So could you tell us what some of the unique challenges are for people living with rare diseases in general and then what are some of the barriers they face, for example, in accessing healthcare?

Jo:

Well, I spent a little bit of time thinking of a list of key challenges and got to number 20 and thought I better summarize this. So I think you know, just to start by saying, rare diseases require a really tailored, personalized approach to health care, research policy etc. And you know, often barriers are really ingrained and systemic and that requires quite a high level approach to make things better and smoother. We've got our unique feet community here in Cambridge, so I'm really privy to their everyday ups and downs and challenges because we share a WhatsApp group where we support each other and the UK rare disease framework. The strategy that we have in this country highlights four key things.

Jo:

One of the key things we need to fix is the diagnostic odyssey. What we mean by that is that people are often on a journey for many years. You know the average is five years to a diagnosis, but someone will spend a lifetime trying to get a diagnosis. Some will never be diagnosed. That odyssey is complex for lots of reasons, one being a lack of education and knowledge amongst healthcare professionals. You know this is not something that's embedded into training. Yeah, so patients end up, you know, presenting with a whole range of symptoms, because often where diseases are very complex, they affect multi-systems and they're getting passed from one specialist to another. Nobody's connecting the dots. So you know you might get your diagnosis but even then there's little hope for many of curative treatment. And even getting the right care and following a good care pathway which is clearly defined is not something that's going to be automatically provided. If you are diagnosed with a disease which is devastating, like cancer, you've usually got a pretty good idea what the care pathway will be, what the route will be to the next step to the treatment, who will support you, etc. But with most rare diseases that doesn't exist. So there's all these barriers in getting the right care.

Jo:

But then, in addition to that, we've got lots of families who you know they've had to give up their career, for example, to care for their child. So there's a huge financial burden too. You know that burden on patient of having to give up work, of maybe only having one income. We also have a number of single parent families and that's a struggle, you know. In addition to that it's not as simple as just going to your local hospital, often for treatment.

Jo:

And there's a little boy in our group who I recently discovered has 18 different specialists. There's five different hospitals. Yeah, I'm going to have to say rightly, I feel like I'm just his secretary. You know, all I do is taxi him from one place to another and manage his appointments, and clearly that's not good either. Families become really socially isolated. They, you know, might struggle to ever find another patient, another family that has the same condition as them. So, in summary, you know it's a complex environment that people are having to navigate, and often for the very first time. You know I could probably spend the whole hour on what are the barriers and challenges to good health care. That's just really a bit of a picture of some of the key ones.

Caitlin:

Thanks, jo.

Caitlin:

I think all three of us, like you say, could speak all day on these challenges, having experienced them ourselves or know people who have been through these.

Caitlin:

But I think, like you say, you've covered a lot of the key points and one of them speaks a little bit around kind of the community aspect which, like you said earlier, is why it's really important to connect people suffering with the same issues, because, although there are over 11,000 rare diseases, people with all those different diseases experience a lot of the same things. So, connecting to those people even if it's not the exact disease, you can, I suppose, relate to them in the same way and it's good to have those people around you who understand what you're going through in some way. But I think that a lot of the other challenges you spoke about are more around lack of awareness, really so the delays to diagnosis, the lack of solid care pathway, the lack of, maybe, treatments, etc. A lot of that is because of this lack of research right in rare diseases. So I wondered if you could talk to us a little bit about what those barriers are to rare disease research and why maybe it's harder to conduct rare disease research versus research for more common diseases.

Jo:

Again. I could talk for an hour at least about what the barriers and challenges are to rare disease research, but I'm going to focus on a few key points. I think one of the key starting points really is the patient population is scattered. So each of these 11,000 different rare conditions, whilst collectively they form a huge population I think up to 400 million worldwide what is intrinsically difficult about research in this area is that each rare disease has very few people affected. So you know we have great examples of kids in our own community here where they are the only person identified worldwide with that rare condition. You know others there may be hundreds scattered across the world. In some situations there might be up to 30,000. You know we've got cystic fibrosis, for example, which is classified as a rare condition, but we've got a fairly big population of people with cystic fibrosis in the UK. But we've got a fairly big population of people with cystic fibrosis in the UK. So you know small populations that are widely scattered and not attractive in lots of respects for research and certainly not for research funding. So you know they are not getting the visibility that's needed to attract funding and there are often very few experts to actually be able to take that research forward. So that's really one of the key challenges I would say to start with just really getting enough resources to be able to take things forward. There's also a problem of diverse phenotypes, so with everywhere disease, patients can present really differently so they might have varying symptoms. Those symptoms might regret at different rates and this complicates study design and data interpretation. So you know that in itself makes them a complex group to research.

Jo:

And I mentioned earlier about knowledge gaps. You know Doctors often aren't trained in specific rare diseases. That in itself, that lack of knowledge, that lack of number of health care professionals and researchers who've got knowledge and awareness to be able to understand specific rare diseases, it leads to missed opportunities. There's missed opportunities for collaboration and for taking research forward. So patients really with rare diseases are very and for taking research forward. So patients really with rare diseases are very underrepresented in research priorities.

Jo:

You know, when we look at research agendas, are we seeing rare diseases there with the more common conditions? I mean, I'm certainly not seeing that at the moment. There's this huge burden, I think, in addition, in terms of regulation. So when you're starting out on a process of developing a treatment for rare disease, that regulatory process is even more complicated. You're faced with strict requirements that are really hard to meet within the timescales with a small population. So I think it just puts people off, it puts researchers off, puts industry off. It feels too risky, too expensive, I think.

Jo:

Lastly, I just want to mention that lack of patient-centred research. So, because rare disease patients are intrinsically more difficult to find, we're not discovering what's important to them. You know we're not able, in the same way, to uncover what are their research priorities, what matters to them most when doing the research. So therefore, you know, there tends to be an investigator led research environment in rare diseases where academics are choosing projects that are interesting to them rather than finding out what's important to patients. And by having that mismatch, that misalignment, you're ending up, when you get to the final hurdle of trying to get a drug to market through the regulatory system, of maybe not having captured the right data, of maybe not having captured the things that are really important and therefore it failing that final hurdle. So again, lots of complexities, lots of differences and nuances, lots of things that are just more difficult when you're rare. Thanks, jo.

Caitlin:

And just to provide almost some real world examples of what you were talking about. So I actually have cystic fibrosis, which is what you mentioned as being it sounds strange to say a more common rare disease. But I mean, we're talking about I think 10,000 people in the UK have it, versus one or another ultra rare disease, and it is an interesting example of how, while rare, it has the benefits basically of being a more common disease. The reasons for that include probably you know there is a way to diagnose it and particularly in the UK now, every child that is born gets newborn screening and tests for it. So you know that there's a lot of people who have it, which makes that, I guess, more attractive to researchers to research it and get a drug for it. It means that people know that they have it and they can advocate for themselves. It means that you can find those patients and get them involved in research and speak to them. It means that there's quite a large kind of patient voice and awareness.

Caitlin:

I think a lot of people, despite it being rare, have heard of cystic fibrosis. The other thing that I thought was interesting is that because it's something that's known about and set up well and there's a lot of research into it. I only go to one hospital and I see a lot of specialists, but they're one team who all specialize in cystic fibrosis, versus the example you gave earlier where there were 18 different specialists and five hospitals looking after one person. So it really does show that actually, a it's possible to do it well, but B the advantages, I suppose, of being more common and more known and what that can actually lead to in terms of research and care.

Clarinda:

It's really a numbers game, Because what's funny is that among physicians you cannot really have a rare disease expert. Right, you can never have a rare disease expert neurologist. You can have a neurologist who then, by virtue of seeing more and more patients who happen to have a particular rare disease, becomes an expert in that rare disease, but that completely depends on how many patients he is able to see with that rare disease. And if he is unable to see that many patients with that rare disease, he is not able to develop that expertise in that rare disease. So it's also how the expertise develops within the clinical or physician or the research community. That kind of adds to the numbers game with how research is able to continue and get advanced and I guess that makes a case for patient communities. You know when patients are able to find each other.

Clarinda:

And then in one previous episode where we spoke to Danielle and Sumaira they were both rare disease patient advocates Danielle was talking about how you know she was looking for answers for her child with a rare disease patient advocates. Daniel was talking about how you know she was looking for answers for her child with a rare disease and her doctor, who was also a researcher, said he needed numbers and she made it her own mission to find all the other patients in the world who had this condition and that was the only way that research could progress by getting those numbers. So I think that it is very much a numbers game that kind of makes the research very difficult, as well, I think that's a really critical point.

Jo:

Actually, you know, we've met a couple of really interesting patient organisations recently through our company's forum and we were exploring the concept of a patient registry and how you know, for rare disease charities wanting to get involved in research, that's often one of the first steps. How do we find all of the people that we need to make up the numbers, how do we collect that information? Where do we find them and how do we store it so that then you know, we can become more research ready because we've got some data? So we spoke to one chap whose child had been diagnosed with a rare condition, almost by accident. You know he was at a hospital in London. They knew there was something wrong, but it just so happened that that day the clinician that was there assessing their situation had seen this before and said I think it might be, and that allowed them then to access some genetic testing to prove that it was what they thought. But because this chap was also familiar with the disease, he was able to very quickly find other experts in that condition and to start to connect those experts together. And then you know, lo and behold, there's also a patient community behind that. When I say patient community, not an organised one, there were patients. Each of those clinicians had patients. There wasn't an organised support network.

Jo:

So this dad decided that that would be his role. He would set up the first patient organisation and try to find other people. And he shared his story about how over 20 years he'd built up a population of families across the world they still only have about 120, but they just haven't found the others yet. But with that number and by collaborating with a similar organisation now in America they were able to start their first patient registry. But when he shared just how challenging that was because it's not cheap to start up a patient registry, where do you begin? But he was really excited to share that through Sandford University in America they'd managed to get I think it's the only international free patient registry called COARDS and to start their work through that. So I think it is often the families who have the motivation, the drive to start to collect this data.

Clarinda:

That's a great segue into the next bit that we wanted to talk about, which is patient communities and patient organizations in the rare disease space. Is there a need for researchers to have stronger relationships with patient organizations to further research in rare diseases? How do these relationships work? What are the benefits of strong relationships with patient organisations for rare disease research?

Jo:

In rare diseases, the strength of that research patient organisation partnership. To be honest, it can make or break a study. These relationships build trust, they help to align priorities and make sure that research really serves the unique needs of the community. So I would absolutely advocate for fostering these collaborations as early as possible. I mean you know they have benefits not just for the patient organisations but for the researchers and the outcomes of that research in the end. So in terms of you know what's good about working with a patient organization, you know they've already got that trust built with their community. They're communicating with them regularly. So in terms of you know that problem that we identified earlier about smaller patient populations that are spread widely. So the solution to that is to find the patient group. Especially that patient group has international reach because they are the people that are going to help you pinpoint and find your participants for your clinical trial, for your research study.

Jo:

Not only that, the relationship and the trust is already there and I'd argue to have a good relationship and trust with that patient community is going to be pivotal to them wanting to take part in your trial or your research and sticking with it, because one of the problems is that you know if something doesn't feel right and it doesn't feel aligned with you, doesn't feel like what your family need, you're going to drop out. You know you've already got so many pressures in life to deal with, like we've already discussed this. On top of that, it has to be meaningful and it has to provide not hope necessarily of a treatment, but certainly hope that it's going to make things better for your child or for others that come following. Communities provide really specialised knowledge. You know they live with these diseases day in, day out and that lived experience is going to provide you with vital information that you need on how is this disease progressing, what does it look like as it progresses, about symptoms, about things that aren't captured in literature. You can't just go searching the internet for this information. You need to hear it from families.

Jo:

We've had a lovely example recently from Duchenne, uk. They'd partnered with a research team in a university in the north of England and they were helping them develop something called a PROM, which is a patient reported outcome measure. So basically, you know, working out what matters to patients. How are we going to measure that? How are we going to measure the difference that we've made? And the researcher shared that she'd not only had the most incredible and valuable experience working with these families, but it had taken her two years to develop this amazing prompt. It took that long because she started with some focus groups of families and asked questions, got their responses and adapted, and then she sent out surveys to thousands of people affected by the disease to track the responses. She studied it, she pulled it all apart and then she came up with a new set of measures and then she tested them on another community. I mean it was a real process and a labour of love. She said the meeting with the families was one of the most powerful things she's ever done as a researcher. So done well. These processes can take a long time, but what an investment. We've already seen the benefits of that within the Duchenne population.

Jo:

What else is important about working with communities? They are the driving force, often kind of research. They're going to help you get access to data, the resources, they're going to partner with you potentially on that grant application and help you get the funding you need and, all in all, it's just going to make sure that your study is much more relevant and impactful. Yeah, I just can't emphasize enough how doing this early is the best policy.

Jo:

I've had a lovely researcher from cambridge university contact me a couple of years ago just for chat and she said you know, I'm thinking about doing a research study in this particular rare disease and I wanted your insights into. You know, how am I going to find a patient population? Is there a patient group that you could connect me with, and how am I going to do this? Well, and I said well, how about? You know, I have a little dig around first and I find out who's out there and I can connect you with them and then maybe we can talk a bit more once you've got that relationship and the outcomes of the work that they've done together has really been inspiring to see.

Jo:

They've created a series of really good lay-friendly, public-friendly films. One is about the researchers, one's about the condition itself and involves lots of families and the other is about the study that they're doing and they just work really closely together on every aspect of the study. And that's something done well. That's somebody coming in saying I'm not an expert in this. You know, engagement with communities, can I have some help, can you connect me with the right people? And then, you know, we embed it into all of our avenues of work. So, done well, it can be really really not just inspiring but successful and impactful.

Caitlin:

Yeah, I think, from what you said, the value of working with patient groups is really clear and, like you say, it might involve maybe a bit more effort or investment up front, but that'll totally pay off in the long run because I suppose you can do research for, as you mentioned earlier, a few years and it come to nothing because you haven't invested that time earlier in understanding the patient needs and wants, and then that could all be a waste. So it's certainly worth doing it as early as possible to make sure that you have that partnership and collaboration. They can support with you know aligning on what the correct goals and objectives are. You know aligning on what the correct goals and objectives are. They can support with resource, they can support with data and patients, which is, of course, really valuable for research. So I think that's really clear in terms of how research should be done and especially in the rare disease space where, like you say, it's hard to find those patients because they're so few and far between the groups can really help pull all of that together.

Caitlin:

Yeah, I guess my question is then so, from a researcher perspective who would want to get involved and, you know, collaborate with patient organizations, how would they know how to navigate the patient engagement or patient advocacy group landscape. And the reason I'm asking is because we're looking at thousands and thousands of patient organisations. There's often more than one per rare disease, or there's an umbrella organisation which could represent a rare disease globally, but then there's one per region or country or there might be several within a country. So I was wondering what your advice might be, for example, in how to navigate that. I mean, you've hit the nail on the head there.

Jo:

It's a complex advocacy environment. It's interesting there's so many opposites in rare diseases. You know, one minute we're saying there's not enough people and they're all scattered. The next minute we're saying there's too many organisations to deal with when you have up to 11,000 different conditions and each of them in itself is unique, and often these groups are set up by passionate families who couldn't find information or data or people or research. You do end up often with lots of groups popping up all over the place and that's difficult to navigate as a researcher. You've got multiple organisation support networks for one particular rare disease. Which one do you go with? How do you decide it's going to be on your team and I think there's a real need here for having a bit of a process.

Jo:

So we talked about you mentioned umbrella organisations and these are an important starting point. You know some examples would be Rare Disease International or Global Genes as global umbrella organisations, but then we've got more regional ones. So we have URDIS, which supports around 800 different patient organisations in Europe, and we have in the UK here Genetic Alliance UK, which has around 220 member organisations. Do you begin with those umbrella groups and go to them for information and support? They've all got lists on their websites of their members. That's often a good starting point. Which groups are registered with these umbrella organisations who potentially, you know, have already begun a bit of a research journey, who have some resources and certainly have a community. Then of course, there are the advocacy-specific groups. So we've already mentioned Cystic Fibrosis In the UK there's the Cystic Fibrosis Trust. We've mentioned Duchenne, uk, which, interestingly, was two separate charities originally and you know the two mums that ran those organisations decided to come together because they could see the strength in collaborating. So one very much focuses on the research side and the other one fundraising for that research. These specific organisations can sometimes be international, sometimes be just by country, but they too are really important, you know. They often will have a research agenda, particularly those who are slightly better funded, but even those who may have very few resources, but they are passionate about wanting to do research. So they're still going to be a great friend as a research partner. So there's umbrella, there's disease specific, and then you have regional groups. So, like Cambridge Wear Disease Network, you know we do work very locally, regionally, across the UK, and some of our projects are international. So, yeah, it's important to find these networks to find these groups and if you get stuck to go to the umbrella organisations to filter down from there.

Jo:

I mean, one thing that's interesting is recently there was a Department for Health and Social Care investigation looking at the rare disease research landscape in the UK. So they explored, you know, industry funded research, charity funded research that funded by universities and research organisations, etc. Etc. And what they discovered was there were around 150 rare diseases that were getting regular attention from research and of them about five that got the most attention and funding. And you know those five rare diseases are ones that we commonly hear about duchenne, cystic fibrosis, huntington's disease and you know the other 145 were often diseases you'd never heard of. What about the other thousands? And how do they ever get into this list?

Jo:

And I think what's really important to emphasise here is, when you're exploring and looking for patient groups to work with is to not ignore those smaller ultra rare groups. You know we are increasingly trying to encourage some of these groups to come together to connect and collaborate to find themes that are cross-cutting so that they could enter the research space. But as a team, as a group, we work together. We find that there are a lot of symptoms which actually span across lots of different rare diseases. If we could get those groups working collaboratively they'd have more visibility, they'd be more likely to be funded. They'd suddenly be more interesting to researchers. So I would just really emphasise that don't always go to the disease areas that already have a lot of attention, where you've got lots of industry partners actually competing with each other to find the solution for those diseases, but to look further down into the more rare conditions. People are really keen to enter the research ecosystem and get started.

Clarinda:

Right.

Clarinda:

Thank you, jo.

Clarinda:

I think some of those stats were really startling and I think that while we're talking about the existence of multiple groups for a particular rare disease, considering the number of rare diseases that there are, chances are for a lot of these rare diseases A there are groups that don't exist If there are still patients looking to find each other in the first place, or there is just the one group that might exist for a particular condition.

Clarinda:

And if there are multiple groups, there are chances that they've kind of found a niche that you know, some groups are just better at community outreach and some groups are better at research because that's what they care about more. Because I don't think that with small budgets and with living with rare diseases, which of course are challenging enough in themselves, these small organizations don't necessarily have the bandwidth to do it all and I don't think that they should be trying to do it all necessarily. So it makes sense for them to find what works for them and then for these industry partners to go and look for those groups that are actually looking maybe to advance research. Do you think that that makes sense?

Jo:

I think that's a brilliant idea and you know you make a really good point there about different groups having different emphasis. You know some are there because they want to support families on the ground, maybe with small grants, and, you know, support for reducing isolation and improving mental health. And then other groups same disease area, who are really research focused, others that maybe are very adept at fundraising. So bringing that that collection of groups together, if you all are doing something slightly different but have individual strengths, could be a really good way to start. I think the other thing that I'd like to mention is that sometimes the rare disease patient organization ecosystem can seem really fragmented, but it's a really powerful collection of people who are really passionate and determined, and I think what we need to do again is to look for solutions to these problems.

Jo:

So, if you've got these small groups that seem a bit risky because they're small and they're underfunded and they're run by families around a kitchen table and how will they ever be able to support an industry partner because of the lack of resources? Well, we need to be thinking, not that we just drop them because they don't have what's needed. Thinking about how can we provide them with what's needed. So is there ways to increase their capacity to provide them with what's needed? So is there ways to increase their capacity to provide them with pro bono support for some of the work that they need to do to be a better partner? Are there ways that we can support them without reinventing the wheel? So I think it's about not being risk averse and thinking I'm not going to work with that group because they haven't got what we need now, but be thinking I want to work with that group. How can I get them to the point where they're better able to work with us? Right?

Clarinda:

So then, as the next step, once an industry partner has found a patient organisation to collaborate on rare disease research, what might be the role of the patient organisation? What might be the role of the patient organisation whether it be patient-led research or industry-led research? How would those roles be defined and what would be the split between the work that they do versus the industry partner does?

Jo:

So we've touched on this a little bit earlier. We do see one of the key roles of a patient organisation in being able to identify people to take part in the research and to recruit those participants and keep them really interested and engaged in the trial by providing education and support that's relevant to them. So they've got a really key role there to play with recruitment. I think also, lots of patient groups do maintain a patient registry and biobanks and of course they can provide and offer that valuable data and information to help research. They've got that very, very personal insight into the disease burden so they're going to be able to share those lived experiences and help industry design a better trial that's relevant and hopefully more successful. I think also by ensuring that the patient voice is really embedded, industry really understand what's important, and I mean things like quality of life and functional improvements, not always a cure.

Jo:

I think one of the key things that patient groups can bring to the table here is an ability to advocate for policy change. So if we're suggesting that regulatory approval we mentioned earlier is quite complex and sometimes feels like too much of a risk, too challenging for industry to to want to get involved in for rare disease research. How about? You know? The patient organisation helps campaign for policy change to be able to collect that evidence that's needed to say why it's not working for them and that we need to adapt. But I also think that patient groups can be watchdogs so they can make sure industry are doing things ethically and that they're ensuring that patient welfare is at the forefront of everything that they do. But it's transparent and then it's really equitable.

Caitlin:

Great. Again, it's really clear about the benefits that patient organisations can bring to the researchers and collaboration is really important there. Bring to the researchers and collaboration is really important there. My next question, then, is that we're going a bit more back to kind of the logistical space. So I think a theme that we've talked about a fair bit during this episode is about lack of resources and funding and, to be clear as well, that's not always just on the side of the patient organisations, but, of course, the researchers might also experience that as well. So if we have this collaboration, which is really helpful in terms of what the patient value can bring to the researchers, are there benefits as well to having researchers and patient organizations work together in order to sort of pool their resources and also share voice and make it a bit louder as well, and are there any initiatives that help support that kind of collaboration?

Jo:

And I mentioned earlier Dishon UK as an example of where two patient organisations who were slightly different in their approach you know, one was very much about family support, the other was really interested in saw an opportunity to collaborate and to come together and to pool their resources while still being able to very much support the whole community. So I think that's one very good example where not only have they pooled resources between the two charities, but they've also managed to recruit charities, but they've also managed to recruit I think it's nine different industry partners bring them together to ask them to collaborate and share data and resources as well. So over time has resulted in some really impactful steps forward. There is a treatment which has now been approved by the regulators for Duchenne and they've just had another major breakthrough for Duchenne, and they've just had another major breakthrough. This treatment wasn't able to be used for non-ambulatory children, but that's now changed recently, I believe. So you know the power of the patient groups coming together to really advocate for policy change, to be able to support industry by getting them all working together. It can't be underestimated. But how about smaller groups and how they manage this kind of thing? Because it's good to look at both. So there's a charity in the UK called Wing 20 Research and Support and the CEO of that, alison Watson, has been really instrumental in spotting the gaps and working out ways to really build capacity for their small group.

Jo:

It's an ultra rare disease, it's rare epilepsy, and she's been, you know, the trailblazer here in bringing together a number of different rare epilepsy charities to work together to pool their resources, pool their data, pool their expertise and become way more visible in the research field. Even before that, if we take it back a few steps further, I think about what was it that really got Alison noticed? And what she did was she used the opportunities that are being offered by organisations like Cambridge Rare Disease Network. So you know, bnually we hold a big stakeholder conference and we invite patient groups to get very much involved and to get on stage and to tell researchers what they need, you know, to be making really clear calls to action. And she took that opportunity very early on and said our disease can't be diagnosed using whole genome sequencing. So you in the audience here can have and that sparked a new collaboration with an industry partner, and you know we talked a little bit earlier about how these collaborations can evolve and this one would allow her to build capacity. So they provided support to build a program with the patient community, skill them all so that they could then go and be ambassadors. So by teaching them about genetics and about the disease, they could go out and tell others about it and really kind of generate interest.

Jo:

So it wasn't all down to us anymore. We have this whole community of warriors going out there, you know, being ambassadors and telling their stories, and I think that's where this idea of collaborating and working together can really be powerful. It gets people on your side, it gets people wanting to help you, because you're suddenly there, you're visible, you're seen. Glavinda's been involved in a lovely project that we've been doing for the last 18 months, which was to build a new rare disease research network. What's different about this platform because it is an online platform that was recently launched is that it was built with and by the patient community. So we had around 25 different representatives. Some were people with a rare condition themselves, others were parents, others represented a patient group, but together with them we've built a platform which we hope is the beginning of the solution to some of these many problems. But you know, it's suddenly provided an online space where anyone with an interest in rare disease can join and build a profile.

Jo:

Help people what their research interests are. You know when they're ready, so they can use the resource section and learn a little bit more about how you do the different parts of the research process. They can learn about how to identify and refine a research question. They can learn about how to identify and refine a research question. They can learn about how to then do the literature search. Is my question already answered out there? If it's not, how do I then build a research team? Who needs to be in my team and then, together, how do we go forward for funding so individuals can upskill themselves, meet other people and ultimately, researchers, healthcare professionals and industry who might then be interested in their research priority. So we really hope that we've really set the ball rolling in trying to solve some of these problems bringing communities together, getting them to see where their alignments are and starting with patients' questions first.

Clarinda:

Yes, I think what's really exciting about the Rare Disease Research Network and it was really a privilege to be involved with so many passionate rare disease research advocates across the UK what's exciting about it is that it's patient-led research. So it's about rare disease patients starting out with an idea saying this is what I want research on, because it's usually industry saying this is what we should research on. Then saying let's bring patients in and ask them what they think. But the research question still comes from the industry. Right, but with rare disease research we're kind of saying that it needs to come from the patients and that does make sense because they're the ones living with it and they know even more than the research knows at this point. So it's quite interesting that the research it's patient-led and that's the goal, that it should be patient-led and the research questions come from the patient and then hopefully they go to a stage where they are taken up by industry partners or researchers as well. So yeah, it would be great to see where that goes.

Jo:

Yeah, because I think one of the key things is you know, how can researchers better collaborate with patient groups? And the starting point has got to be where do we find each other? How do I know what you're doing and how do you know what I'm doing? How do we know we're each doing the right thing? Well, we need a space for that to happen and, whilst you know our rare summit is a great meeting place, it's a lovely melting pot of all the different stakeholders and you know I love this event for all the ideas that it sparks and all the collaborations that I see emerging from it over the years. Ultimately, that's once every two years and we need those meeting points to be available every day. You know we've got too much work to do in the rare disease space. We've got too many conditions without any treatment at all, and the only way that we're going to scratch the surface of solving this problem is if we all work together and we start with what's important to patients first.

Clarinda:

So, Jo, I think you might have preempted my question there, but is your long-term dream for rare disease research?

Jo:

I mean, my long-term dream is that every rare disease has research. That's got to be our ambition. But every rare disease deserves research, deserves exploration, deserves to have information that's suitable not just for healthcare professionals but for families to be able to better understand what's happening and what the future might hold. But ultimately, I think my ambition and my hope for rare disease research is that it will be better funded, that there will be much better engagement and collaboration from stakeholder groups to make this happen, that it becomes a priority amongst countries across the world to be there on the research agenda as being something that's the most important underserved field in medicine and for everyone who wants or needs a treatment that they can access that but the research leads to real solutions that everybody who needs it can have. I think that's that's my hope.

Jo:

And you know just to kind of make it clear that whilst the rare disease research network is patient inspired and patient driven research, there's not an expectation that the patient groups will do the research themselves. We still need researchers and we still need the healthcare professionals who want to help here and we still need industry to take this forward. And actually, you know we're excited to see the other really well-funded project that have started in the last two years. You know the MRC and the NIHR in the UK, along with LifeAr, have all invested millions into rare disease research in the last two years and that's vital, important and exciting and hopeful and it's great to be talking to all of those partners about where the rare disease research network and its patient-driven approach fits with the work that they've got planned. You know we're not trying to suggest that those things aren't needed. It's all needed and the best outcome can be that we all work together.

Caitlin:

Great. I think that sounds like a really amazing long-term vision or goal, and I'm sure anyone who's been involved in the rare disease space or with rare disease patients would agree with that as a goal. And I think what's great is that, even though I think there's lots that still needs to be done to sort of move the needle, there are initiatives out there that are trying to make this easier for both researchers, the patient organizations and really great examples of how it can work really well. So hopefully, if we can continue to talk about it and share these stories, then more rare diseases can have this experience and have more research for them too. So this has been really fantastic. Joe, thank you so much for joining us and talking rare disease for this special rare disease day episode. I think just for the last few minutes, we have a few final quickfire questions for you, the first one being, of everything we talked about today, what do you think your one piece of advice would be for researchers looking to conduct rare disease research?

Jo:

Ask patients first. Is this what you want us to do? Is this what's in your community? Will this make the difference that you need Just ask Perfect.

Clarinda:

Right and, similarly, what would be your one piece of advice for rare disease patient organizations looking to drive research?

Jo:

Join the Rare Disease Research Network. That's got a good starting point. Go to a place where you're going to be welcomed, you're going to be supported and you're going to find others like you, but also other stakeholders that you need to drive things forward. In addition, be open to collaboration. We're collaborating with other disease groups that are the same disease as you to find power in your different expertise and to have a bigger voice. Opportunities to collaborate elsewhere diseases, you know. Are there things that we can all work on together, where we're all struggling with the same barriers, the same challenges. Just be open to collaboration and get out there and get your name heard. Get your disease on people's radar. Attend events, offer to be a speaker, connect with your local politicians all those things that are going to give you a bit of visibility.

Caitlin:

Yeah, I think that's a perfect note to end on with call to action for everyone. Thank you.

Clarinda:

Yeah, and I can say that I acted on a similar call to action.

Clarinda:

So I'll just quickly share this story. I found out about the Rare Disease Research Network when I read a LinkedIn post that Joe put out saying that they're going to be working on this project, and I found out that is UK specific, but I wrote to her anyway anyway saying I'm in India, I don't even know if I qualify to be involved, but I'd love to be involved and I live with this rare disease and this is me and she wrote back saying that our grant does not allow anyone outside the UK to actually be involved in the working group, but we'd love to have you on the managing committee. So that's how I got involved. So really I think that the advice to be open to collaboration and to, you know, shout out about your rare disease really makes sense, because that's how you can get yourself out there and your disease out there. So thank you, joe. This has been really an interesting conversation. You've also been a treasure trove of really interesting data points and statistics and I loved all of that and you were really a breath of fresh air.

Caitlin:

We loved having this conversation, obviously thank you, it's been lovely to see you both and thank you ever so much and good luck with the podcast so, corinda, what a great conversation we've just had with joe for rare disease day and just for our final section, I was wondering if you could tell me a few of your key takeaways from our chat yeah, I think it was a lovely conversation.

Clarinda:

It was really insightful and one that really hit home for me and I'm sure for you as well, because of both of us being rare disease patients ourselves.

Clarinda:

I think right off the bat we spoke a lot about the challenges patients with rare diseases face, both in their daily lives in accessing healthcare, but then also the challenges to rare disease research, which was the focus of this episode.

Clarinda:

And when it comes to research in rare diseases, one of the biggest challenges and I think that that is the crux of the matter it's that the number of patients is just too low and because of the low number of patients, that means that patients can't find each other, they can't find that sense of community and they can't necessarily find that shared experience. But also, from a research standpoint, the researchers can't really get funding that they need. It's less attractive to conduct research in these areas because of a lack of awareness about these diseases. The lack of experts that there are to even study and take these research ideas forward, and the fact that there are low patient populations means that there is difficulty in acquiring the levels of statistical data needed to achieve regulatory approvals as well. So there are huge obstacles up against rare disease research, which is also why research in some of the more common rare diseases becomes easier to do than research for some of the rare or the ultra rare diseases.

Caitlin:

Yeah, it's absolutely a numbers game and that's why, particularly in rare disease, it's extra important to collaborate with patient groups and patient representatives and that's because they are able to tap into that wider community.

Caitlin:

So they can really support research in terms of raising awareness of it, trying to support with recruitment, but they can also provide that patient insight from the community right at the beginning to make sure that the research is actually important to patients. And that's important. Of course, if you have investment into research, you want to make sure that it's actually relevant to the patient population. There are a lot of disease groups out there and that can be quite hard to navigate, but they tend to be really open to speaking to researchers because they want there to be more research in their disease area and quite often even patient groups have a research agenda and have patient-led research and data as well. So it's really beneficial both for researchers to collaborate with them but also for patient groups to work with researchers, to support with funding, to support with recruitment and to support with data.

Clarinda:

Right, I absolutely agree and I think that patient-led research is extremely important. It's something that we've advocated for strongly and we've talked about a lot in all our episodes, but especially so in rare diseases, I think, because, again, because of the small numbers, you need that even more, right, you don't want to spend all that money and whatever little funding there is to conduct a study and then reach the regulator level and then find that it's actually not serving the actual deep needs of patients. So that patient-led research becomes even more important. And collaborating with patient organizations there are some great initiatives out there, for example, the Red Disease Research Network, which Joe spoke about, which I was also involved in as a management committee member. That's a great initiative where anyone who wants to get involved in patient-led research whether it's a rare disease patient, a rare disease patient community, a researcher, a funder, an industry representative can join the platform and connect with others in specific disease areas and explore common interests in research and hopefully we can see more patient-led research getting done through those connections and collaborations.

Caitlin:

Yeah, great so I think we've gone through the conversation that, even though there are challenges with rare disease research, it is something that's really important for the community. While there might be not many patients with each disease, we're really talking about millions of patients who are living with a rare disease, who, at the moment, have no research into their disease, no available treatment, no research into their disease, no available treatment maybe not even a diagnosis, so rare disease research is really valuable. There are initiatives out there to support rare disease research and make it easier.

Clarinda:

And it needs to be done more Right. Happy Rare Disease Day. Thanks for listening. This has been Not Just Patients with our guest Joe Balfour and your hosts Caitlin Rich and Clarenda Sarajan. Thank you.

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Caitlin Rich

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Clarinda Cerejo

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