[00:00:15] Speaker A: Welcome to Virossi's few and far between podcast. I'm your host, Chris O'Brien. Today's guest believes in making revolutionary changes to clinical data management, ensuring access and ownership for the patient communities that provide it. I'm excited to welcome Charlene's son, Rigby to our latest podcast episode. Charlene is the CEO of Global Genes, a nonprofit focused on empowering the next generation of rare disease advocates. Across 20 plus years of experience at the intersection of data, tech, and healthcare, Charlene has spent her career helping others gain better insights into big data. And as the mother of a child with STX BP, one encephalopathy, a rare disease characterized by neurodevelopmental epilepsies, Charlene has channeled this expertise and dedication into transforming rare disease communities and building the infrastructure for a world where clinical data is ready to be shared with all of those who need it. I really enjoyed my conversation with Charlene, and I hope you find this episode both interesting and inspiring. Okay, time to start the podcast.
[00:01:29] Speaker B: Charlene Sunrigby, welcome to few and far between.
[00:01:32] Speaker C: Thanks so much, Chris. Glad to be here.
[00:01:34] Speaker A: So I thought it might help to.
[00:01:36] Speaker B: Start out with if you could tell us a little bit about your personal story, your journey, and what's led you to all the exciting stuff you're doing today. So would you mind starting out with a little bit of the backstory?
[00:01:46] Speaker C: Yeah, of course. I have spent my career in data, basically helping people get insight out of big data, large amounts of data, and about half of that has been in enterprise software and has been in genomics. So I actually been in enterprise software for about ten years, and I was really hungry to get back into the life sciences and had kind of a false start. I went to a startup company that was making this really cool real time analytics software, and one of the founders was a bioinformatician. So I thought, okay, great, this is going to be my chance to get back into life sciences. And I came in to help them to figure out what the business case was for this really cool tech. And it turned out that it was for online advertising and basically, from a market maker standpoint, figuring out whether you should pay $0.10 for this set of eyeballs or a dollar. And so I kind of helped them get that business model up and running, but I really was not very passionate about online advertising. I was seeking my next opportunity to get back into bio, and I got reconnected with an old colleague who I had worked with in the 90s. So I'm dating myself a little bit. And I was working in genomics before, really before we knew where genes were.
We had completed the Human genome project, but there was still a lot we needed to learn. And so I had reached Shirley.
[00:03:14] Speaker B: I want to interrupt just to say, your undergrad had been in life sciences ready? Bio.
[00:03:19] Speaker C: That's right, in human biology.
[00:03:20] Speaker B: And then you had kind of just gone in some other directions for a while, and then you were kind of working your way back towards it.
[00:03:25] Speaker C: Exactly. So I end up going to a company called Fabric Genomics. And I was really excited about this, because, as you said, I had left the bio and genomics field early in my career, and the reason I had left was that I really felt like we were in very early research mode at that time. And I got excited because what I could see was happening, and this was 2013, that genomics were really moving beyond just research and moving into truly impacting the clinic. And that got me very, very excited. So I had just started at fabric Genomics, and I also had my second child. She was ten weeks old. And I ended my maternity leave a little bit early because I really wanted to go to the American Society for Human Genetics Conference.
[00:04:17] Speaker B: Signs that you have ended up in the right field, right?
[00:04:19] Speaker C: You come back.
[00:04:22] Speaker B: Well.
[00:04:22] Speaker C: So I was also really excited because I brought my two and a half month old with me, and I thought, she's definitely going to be a scientist, because she's getting all this early science.
We're not going to give her a chance to do anything else.
But as the months went on, we started realizing that she was missing milestones at around four months. And so that started for us a three year journey to figure out what was going on with my daughter Juno, and it turned out that she had a rare genetic disorder called STXBP One, and she had an atypical phenotype. So that's why it took us three years and probably 27, I think I've counted them, 27 different tests before we were able to get a diagnosis for her.
[00:05:12] Speaker B: Shirley. Well, that might be a little uncommon, even in rare, but to have that many tests, but a long journey to a successful diagnosis is not that uncommon. What did you learn from the process that you went through, and what advice might you have for other parents who go through this? Obviously, a new parent's nightmare, right, is suddenly thinking something's wrong and not knowing what it is.
[00:05:31] Speaker C: Absolutely. I would say that at a high level, trust your gut. I think that things have improved to some extent in terms of diagnostic for rare disease, in terms of access to genomics, at least in the neurodevelopmental space. And now there is reimbursement for whole exome sequencing. So my daughter was diagnosed through whole exome sequencing. And at the time, so this was 2013 to 2016, it was considered experimental, and we got denied by insurance a couple of times, and it was a difficult path. The ironic thing, because I think about this a lot, is that we're in San Francisco, so we're in the Bay Area. I'm working at a genomics company, and it still took us all of this time to get access, but I was trying to do it clinically. And in hindsight, of course, it would have been much faster to go to a research program and get her sequenced that way. I was really hoping that it was delays, and I know that for families or for patients where they're going to the ER, they're in the ICU, that's a very difficult and also a very heightened situation.
My daughter, we still were thinking, because she was 18 months old, maybe she's just having delays and she's going to catch up. And so I think that I did say, trust your gut if you believe that, you are right, if you think that something is going on. It took us probably a year or longer to convince our pediatrician that there was something that needed to be followed up on, and then we were able to get a referral.
[00:07:17] Speaker B: Were you getting the kind of like, oh, you're just a nervous parent. Kids develop at different stages. Nothing to see here. Was that kind of the message?
[00:07:26] Speaker C: Yeah. So this is my second child. So, of course, I said things like, well, my first child was walking by this stage, and the pediatrician said, all kids develop at different times. Which is true, which is absolutely true. But, yeah, I think that it really comes down to parents really having a sense of their kid and what doesn't seem right. The other thing that's troubling is that a prominent feature of STXBP one is seizures. And specifically, a lot of kids experience infantile spasms, and those are hard to recognize, and they're also incredibly damaging from a development standpoint for the brain. And we now believe that she might have been having infantile spasms, and they just went undetected this entire time. And so it's frustrating and definitely a situation where, for a lot of people, three years is a short diagnostic odyssey. The average is seven years. And so I know that we're lucky.
[00:08:28] Speaker B: Fascinating. In addition to trusting your gut and not being dissuaded, what is the path that you'd recommend for somebody now for genetic testing, how would you proceed? Would you recommend the clinical process, or do you think something else makes more sense?
[00:08:41] Speaker C: Well, I think starting in the clinical process is the right place to start because there is a growing amount of insurance coverage. And this is true not just for whole exome sequencing, but now for whole genome sequencing, which is much more comprehensive in terms of the data that comes out of it. But there are also a growing number of research programs where people can get access to sequencing. And I think that it's really important to leverage those resources if people have a suspicion that they might have a rare disease. I would also suggest, just from a practical standpoint, they can reach out to the Global Genes Patient Navigation team, and our team can help them to understand what resources are available. I'm fully aware that it can be challenging in a clinical setting, because a lot of clinicians are still conservative about wanting to go forward with some type of testing that is like whole exome or whole genome versus a small type of genetic test. And so that's a transition that we need to go through, and it's going to be challenging in terms of the provider side.
[00:09:53] Speaker B: Okay, so you go through this process and it leads you. Does it lead you directly to founding the SDXPP One foundation, or how does that all come about?
[00:10:01] Speaker C: Well, I wish that it had led me to direct that. I really admire people who, they get a diagnosis and are immediately able to turn that into action. I definitely had a several month process of really trying to process this new information where, because it had taken us a while to get a diagnosis, I had still been thinking, oh, this is just going to be delay. She's going to grow and start to catch up. And that wasn't true. And so it took me some time to really accept that. And then I was really fortunate. I found five other families who were in the process of trying to start a foundation for STXBP One. So just to give you a sense, this was 2016, and there were about 200 kids in the world who had been diagnosed, and there was no established advocacy group, and you could count the number of researchers on your hand. And so we had a lot to do to try to activate research and start to go down the path of developing therapies for STXBP one. So we started the foundation in 2017, and we focused very much on how to Kickstart research, and we started a scientific advisory board, and we're really trying to work with the science and the research community on how we could advance the research. But also to expand the network, because that was also very critical at that time.
[00:11:32] Speaker B: Were you thinking at that stage already about getting a treatment into the clinic, or did that develop over time? I'm trying to put myself in the headspace of you and those other parents when there's really not much information available. As you said, very few researchers were working on this, et cetera. How did you think about even kind of what the objectives of the foundation might be?
[00:11:50] Speaker C: Yeah, we spent a lot of time thinking about what our mission and what our goals were, and absolutely accelerating therapeutic development was one of the highest goals.
[00:12:01] Speaker B: Fantastic. Okay, so then you get going. You get started on creating the foundation, then what happens next?
[00:12:07] Speaker C: Yeah. So we were very lucky because we already had a community that had been assembled and found on Facebook, and so we were able to really plug into that community, and now there's multiple Facebook groups and WhatsApp, I think that Instagram and all kinds of social media groups. But we were very lucky that we were able to build on that and start to activate the community. So we started the 501 or the nonprofit filing, and then we really looked at how can we. Of course, I talked about the research activation, but also, how can we activate the community? How can we help build the community around this, focus around research, get people excited about this and interested in learning more? And then, importantly, what can we do to support families today? So, the set of therapies that are available now for FTXBP One, and frankly, this is true for many, I would say most all neurodevelopmental epilepsies, is that the treatments are subpar at best. They manage seizures. For a lot of kids, they don't manage seizures well. So about a third of STFBP one patients have refractory seizures, which means they are not able to be controlled with seizure therapy. So that's a huge problem. And then the other issue is that these seizures are only one of the symptoms for these kids. They can have motor issues, they have cognitive issues, they often have digestive issues, swallowing issues, low muscle tone, behavior issues. So it's really a much more complex picture, which is why we were very focused on not just therapies that were a modest improvement of what exists today, but therapies, really, that could treat the whole patient.
[00:14:08] Speaker B: I mean, that must have been an incredibly exciting call to arms for everyone who was involved as well, because let's do something at the margins might seem easier in some ways, but it's a lot less exciting than let's really go after this, right?
[00:14:19] Speaker C: Yeah, absolutely. So I think that this is probably a good time for me to talk a little bit about the work that we started or the thinking that I started having around data collection, because data, there were 200 patients. There really wasn't a lot of information. The patients and what symptoms they had, what their kind of lives looked like in terms of what people in the sciences would call disease progression. And so we started really looking at data. And Simon's foundation was an organization that partnered with us, which was really fantastic in terms of collecting data as an initial step. And so then we started talking to other groups that were our contemporaries. And what I was really surprised about was that everybody was doing data collection in a different way. Some people were doing it as bespoke. They were building their own registries, and others were partnering with lots of different groups. And I kept thinking that, gosh, there's a lot of recreation of the wheel when advocacy groups aren't necessarily, not necessarily ever run a research study, don't necessarily have data backgrounds. And so I kept thinking about, what opportunities do we have across rare disease to really elevate and accelerate all of this work around data collection? And so I had been thinking about this problem, and then I met Nicole Boyce, and who's the founder of Rarex and the Rarex team, and I was just really delighted because they had already started working on. And, in fact, we're about to launch what I had just been thinking about. So I made a career change, and I left the commercial world to move fully over into the nonprofit world. And this was in the fall of 2021. Wow.
[00:16:09] Speaker B: Okay. So that must have been pretty dramatic. So what does day one of that look like?
[00:16:15] Speaker C: Well, day one was, oh, okay, we don't have an office, actually. That was great. I mean, it was okay, since we were all kind of in the middle of the pandemic, but that was kind of change number one. But it was fantastic, actually, because I have been at multiple startups in the for profit world, and Rarex was really just another startup, but in the non profit world. And the thing that I was very excited about from a mission standpoint, was that the idea was to really enable patients to be true partners at the table and to have the ability to own their data and have a say throughout the research process, because there are so many examples, including for myself, where people have participated in research studies and have no idea what the outcome of those research studies were. They have no idea what happened to their data. They may have given even biosamples, they may have given blood. They may have given other types of tissue samples and have no idea what the outcome was. And I think that it's really critical that we change that, because patients should really be true partners in research and can help to really accelerate research. So that was the thing that really drove me and got me very excited about what Rarex was doing.
[00:17:37] Speaker B: There's probably also an ethical argument there, too, isn't there? That if people are contributing in those ways, that they should have a right to understand what the results were and understand what happened to their data if they're going to do that?
[00:17:47] Speaker C: Oh, absolutely.
I think it's an ethical issue on many levels. And I think that one thing that is unique about rare disease is that we have so few patients, and so we have this kind of unique set of circumstances where there are few patients in any one disorder, they're geographically dispersed, and the patients often have the highest urgency around, really research moving forward and to have it have an impact on their community. And so I think that you're right that there is an ethical issue and maybe even a moral imperative, I would say, for patients to be able to own their data and to be able to really have a say over how it's used and understand the outcome of the usage of that data.
[00:18:42] Speaker A: Hi, this is Chris O'Brien, host of Few and far between. We'll be right back with this episode in a moment. I personally want to thank you for listening to our podcast. Now in our third season, it continues to be an amazing opportunity to speak with some of the top thought leaders in the clinical trials industry. If you're enjoying this episode, please leave us a review on Apple Podcasts. It really helps people discover the podcast. And don't forget to subscribe to few and far between so that you never miss an episode. One last request. Know someone with a great story. You'd like to hear me interview? Reach out to us at
[email protected] thank you. And now back to the podcast.
[00:19:24] Speaker B: So talk a little bit, if you would, about this might be an unfair question to ask, but there's kind of a process improvement around standardization of data protocols that you kind of referenced first. And then there's this second thing about kind of more of an advocacy thing. Was one of them more dominant than the other when you were making the decision to move in this direction with your career, or did you see them as just two very interesting things you could be involved in?
[00:19:48] Speaker C: Yeah, well, I think that they are almost two necessary ingredients is maybe the way that I would see it going back to this point, around having very few rare disease patients and not having very much data. So in order to maximize the use of that data, you need to have as many patients as possible. And so that's why this decentralized model, where we could really partner with patient advocacy groups to maximize the number of potential participants in a research study to characterize a disorder in a longitudinal way, was really exciting to me. And second, this idea of let's collect the best quality data, because I've spent a lot of my career working with dirty data, and dirty data can have all kinds of forms, right? But at the end of the day, dirty data, hello, quality data makes it hard, and it's actually a disincentive for researchers to want to use it. And in rare disease, we need to do everything that we can to incent researchers to want to use the data. And so that, I think, was a key design element around how do we make the data as easy as possible to analyze. So map it to ontologies, use validated instruments, make it so that it's easy to federate, and also make it so that we've really lowered the barriers in terms of access. So there's a very streamlined process for researchers to be able to request data. And importantly, our focus is to make sure that we're abiding by the consent of the participant.
[00:21:37] Speaker B: Is this the right way to think about that, then? It sounds like you're describing researchers as customers, in a way, another set of constituents that are important. Of course, you've talked about the need to understand and protect people's access to and transparency around what's going to happen to their data. But also you're talking about making the data more attractive to work with and therefore maybe enticing people to do research they might not otherwise do. Is that right?
[00:22:00] Speaker C: Yeah, absolutely. So I'll say a neat example of this is that we opened up the access for researchers to the data platform last fall, and we launched an open science data challenge early this summer. And we actually just announced the winners of that open Science Data Challenge last week. But the idea was really to get people interested and excited about rare disease data and to make it as straightforward as possible to be able to analyze that data in a robust way to answer a question. And so the open Science data challenge was really exciting because there were three different questions, and we had groups submitting answers from all around the world. In fact, one of the winners was from South Korea. And the thing that for me was to know that people can access the data, people can get insights out of the data and that the insights can answer specific questions that get us toward advancing therapies. And so that was very, very exciting to see an example of how the data can be used.
[00:23:10] Speaker B: So when you think about access to the data, how much of it is about utility, so things like are the data federated and how have they been managed, and how much of it is about the I don't want to share mentality that sometimes exists in science. So do you run up against that a lot? And if so, how do you think about that?
[00:23:26] Speaker C: Reworks was started to address a lot of the second issue. So I am going to say that researchers are changing, and I strongly believe that. But where we are today is that we have a real lack of alignment. Right? So in academia, there's a publisher parish issue, and so people want to hold on to data until they have published. And there are now requirements, including by the NIH, around needing to make data available after researchers have received grant money. And so I think that that's good in terms of starting to get better alignment, but we don't want that data. We want to minimize the amount of time that any data is really held and not available more broadly. And then in industry, traditionally, when data was collected, that was really considered competitive advantage. And I think where we're starting to go to is realizing that all of that data, natural history data, patient symptom data, should really be pre competitive. And where people are going to differentiate and compete is based on their products and their ability to mature their pipelines.
[00:24:35] Speaker B: And when you make that argument, do you find most of the people are nodding their heads or people are saying, well, that's not how it works, or what kind of reaction do you get?
[00:24:43] Speaker C: Yeah, I think that people want to get there and there are people who are doing this. I've been really excited that there are now multiple pre competitive consortia in the rare disease space. Actually, rarexgobal genes just launched one in collaboration with the Sleep Consortium, where there are multiple industry partners as well as advocacy groups, all working toward advancing data collection in disorders of hypersomnolence. So I think that that is going to be the way that we'll be able to do things going forward because of this issue around numbers of patients and needing robust data.
[00:25:24] Speaker B: I want to move to the global genes merger and just understanding that a little bit better in a second. 1st, is there anything specific you want to say about moving towards standards around data collection, or do you feel like this is sort of something that's been asked and answered, or is there still a lot of education that has to be done around that.
[00:25:43] Speaker C: I think that there's always education that needs to happen, and there's various constituents also in the ecosystem. So groups like GA Four, GH have really helped with driving forward these concepts of interoperability and the value of data standards. I think that there's just much more kind of continual education that needs to happen around that. In the patient advocacy space, there is a lot of education that needs to happen there, because thinking that a lot of patient advocates are not coming from a data background or a research background, and so really helping them to understand the value of utilizing very structured data that's been mapped to, mapped to standard ontologies and how that accelerates research is important. Educational theme. Absolutely.
[00:26:33] Speaker B: Yeah. We find, I mean, lots of patient advocacy organizations, they are formed oftentimes by parents like you who have a passion around this because they have a child or a family member who's directly impacted. Most of them don't have a strong data background. You're an unusual combination of skills for that. So that makes a lot of sense to me, that advocating for data standards would be important, will continue to be important. The curse of dirty data is not going away anytime soon, I'm afraid. Okay, so let's talk a little bit about global genes and Rarex. And can you just level set us a little bit and tell us what the two organizations were doing and then kind of what led to the merger?
[00:27:09] Speaker C: Yeah, so I talked a little bit about Rarex, and Rarex was really two year old startup last year, and the focus there was to enable advocates and patients to collect high quality data to advance research. And so Rarex was actually spun out of global genes in, I think, 2019, or of an idea that came out of some work that global genes had been doing. So global genes has been in the patient advocacy space for rare disease for the last 15 years. And our boards started talking last summer and thinking about, is there value to joining forces? And we had already had multiple areas where we were collaborating, because what was interesting, at least looking at it from the rare X side, since that's the side I was coming from, was that, yes, we were providing this capability to patients and advocates, but oftentimes they needed education and they needed support to be able to really take advantage of that. And so we were naturally partnering with global genes on those efforts. And so the discussions between our boards last summer, an AHA moment came when we started talking about how advocacy has really changed in the last ten or 15 years, and we started talking about this next generation advocate or next generation advocacy, where advocates have really taken a different role. If you think about what happened with cystic fibrosis, now, many years ago, that was a true outlier, and now that type of activity within the advocacy space is now becoming more and more the norm, which I think is just extremely.
[00:28:52] Speaker B: That's really interesting, right? That's almost a template now for how people approach these problems, right?
[00:28:57] Speaker C: Yeah, absolutely. And what's different now versus ten or 15 years ago is we have all of these precision therapies, right? So these technologies that are enabling precision therapies, where you have this opportunity for potentially really transformational changes for communities. And we also understand rare disease diseases much more precisely in terms of the underlying genetics. So there's been this number of 5000 to 8000 rare diseases, and now we know that there are over 10,000 rare diseases. There's multiple examples of this, but you could even think about in breast cancer, where now we don't talk about it as breast cancer, there's actually multiple subtypes there. It's true in many other types of diseases. So that's changed. And then the other interesting thing is that it's not only on the research side where things have changed, it's also in terms of how to be able to find your community. I mentioned that for STXBC One, we already had a Facebook group and now have many more, but that's completely transformed people's ability to find other patients around the globe and also connect with other advocates and things like blogging and being content creators, which is something I still am very much a newbie at. But it's really enabled people to tell their stories very widely and amplified the awareness around rare disease. But then also these specific disorders, which I think has really transformed this space. And then the final thing that I think about a lot is that we've moved from just rare disease to now, this tale of ultra rare n of one. And the patients and the advocates are the ones that are driving because they have the deepest urgency. And right now, from a pharmaceutical company standpoint, the economic argument is very difficult at that tail, especially when there's no characterization of the disease. And so that's why we really were so excited about how can we help and support this next generation advocate and advocacy.
[00:31:04] Speaker B: So that's really interesting. So it's a series of things that are coming together. The move towards N of one, the rise of social media, the existence of organizations like yours and the province in the science that are all coming together to make advocacy something that requires different skills now than maybe it did once upon a time.
[00:31:22] Speaker C: Yeah, absolutely. Yeah. It's a different skill set, maybe an expanded skill set.
[00:31:27] Speaker B: Yeah. Right. You probably still need to do a lot of the things that you needed to do 15 years ago, but now there's this other set of skills and this opportunity to learn from. One of the things that we find so exciting, we have conversations with people like you, is the opportunity that people have to learn from the journey that others have been on in these spaces. So, okay. So you start to say, hey, maybe there's a real opportunity for these two organizations to collaborate, but it seems it moved kind of beyond just collaborate. Right. You merge the organization.
[00:31:53] Speaker C: That's right. So we ended up merging in December of 2022, really around this idea that we would have a new mission as global genes. Now the single team, this new mission around supporting and enabling next generation advocates. And the thing that, because we actually had a lot of Discussion around this topic, around is it research only? And clearly research is driving, or I should say technological advances are driving a lot of this. But there is still such a need in the areas of support, community building, education.
We are doubling down in those areas and really see it as a continuum of efforts that we need to support through what are now our pillars of support, education and research.
[00:32:45] Speaker B: Yeah, that's really exciting. So each organization is kind of leaning into what it does, what it does best.
[00:32:50] Speaker C: Yeah. And bringing together, it's taken us, now we're nine months into the merger, and it has taken us some time to really figure out how to integrate our programs and evolve them in a way that takes advantage of the two different kind of capabilities and skill sets that we've brought to the table. But I've been very excited. We just came out of our week in rare, which was bringing together our health equity forum and our Rare Advocacy summit last week. And you could really see how there was a confluence of topics, and the pillars really came through across those. So it's a pretty exciting time. And I will say, also having been through a lot of mergers, when I was at Oracle, this one was. So when we were going through the merger in December, I was presenting at our board meeting, and we had a strategy strategic plan laid out at the high level. And one of our board members said, well, you know, culture each strategy for lunch every day. So what are you doing on the.
And he's absolutely right. I mean, that's definitely what I saw many times at Oracle. But I have been really delighted that the team has really culturally rolled up our sleeves and worked to create a new, merged culture. And I think that that's been a huge asset to us through this process.
[00:34:18] Speaker B: Yeah, that's really cool. I think that makes a ton of sense, too. When these things fail, they could fail for all kinds of reasons, but culture does seem pretty far up on the list most of the time. So what comes next for the combined entities?
[00:34:29] Speaker C: Yeah, well, we're very focused on. So one of the big themes at our conference this year was on collaborations, and so collaborations, and I talked about pre competitive data collection as something that I think is going to be a growing and important theme in the rare disease space. But we are really looking at, how can we enable advocacy groups, and this is across the pillars around support, education, and research, how can we enable advocates and advocacy groups to really form?
So, you know, like, one example that I'm excited about that I'll give is work that has been happening at Colorado children's. There's a neurogenetic clinic that was started there a couple of years ago with four neurodevelopmental disorders. And so they gave some initial funding for the clinic. And that clinic now is led by Scott Demerest, as well as Margarita Sens. And the goal was for those communities to start to build clinical expertise for their patients and also to be able to collect data to start to build Natural history. And so this is kind of a cool, basket style natural history study, and it's being supported with technology from Rarex in terms of the data collection. And so I think that that's, like, a great example of how we can bring researchers and advocates together, and patients and Rarex and global genes are able to support it in terms of enablement and tech. And the other thing I wanted to mention, since you were asking me what was next, is that something that I am very mindful of, is that, at least on the Rarex side, a lot of the initial work was around helping groups create baseline data. But what is happening now is looking forward. We need that data to be able to support preparation for clinical trials. And so clinical trial readiness right now is a big obsession. It's a big personal obsession of mine, but it's also a big obsession of, I think, a lot of groups, because we're at actually a pretty exciting time beyond what we see in terms of these recent approvals for EB, for SMA, et cetera, and what's in clinical trials. There are hundreds. There are hundreds of therapies right now for rare disease that are in preclinical pipelines. And so that is exciting, but it's also challenge for us about how are we going to make sure that we know that these drugs work and how are we going to make sure that we are able to measure what matters to the patient.
[00:37:01] Speaker B: Your point about data applies here as well, that you want to set those trials up for maximum success. And so thinking about trial design and regulatory strategy and all those things, there probably are a bunch of common lessons, aren't there, that you guys can be helpful to for lots of these advocacy organizations that have committed talented people who are going to raise money and go after the development of a solution, but they probably aren't doing this as their day job, right?
[00:37:25] Speaker C: Yeah. And I think that also clinical trial readiness, at least for me, was not immediately obvious as something that you needed to do right. Things that I was told was we need to have the right models. So do you have a mouth? Do you have IPSCs? Do you have those kinds of models? And what's happening with the therapy development? And I was really only introduced to clinical trial readiness pretty recently, and I think that it's important that groups start to think about that earlier because I'll give you an example. There was a clinical trial for a repurposed drug that was done at Wild Cornell with Zach Grinspin, who as the PI for STXBP One and SLC Six a one. So this was in my daughter's community in one of our collaborating neurodevelopmental disorders. One of the measures that was being used to measure motor didn't work at all for our kids.
[00:38:19] Speaker B: Wow.
[00:38:19] Speaker C: Because they couldn't complete the measure. And so great learning. But you don't want to learn that in a clinical trial.
[00:38:27] Speaker B: Yeah. Right.
[00:38:28] Speaker C: Yeah. So we've taken that learning and now are incorporating it for future clinical trial design. And I would say it's no negative on the Wild Cornell team because we were really accelerating things. Like there hadn't been a natural history study done for STXBP One. And so that was definitely, the design was maybe earlier than we were ready, but we were so thrilled at the opportunity for being able to have that clinical trial, and we've taken great lessons from it.
[00:38:57] Speaker B: I bet, first of all, that makes a ton of sense in sort of my day job as the leader of a Cro. Points that you're making are really resonant. We often see really talented teams, including commercial teams, that maybe have not thought through all the elements of how they're going to implement this in the clinic. And so oftentimes it's a place where people need help and support, and there are some common lessons that lessons learned that can help people to up their chances for success. So I'm sure you guys will add a ton of value there.
[00:39:21] Speaker C: Yeah. And the other thing that just thinking about clinical trial readiness is doing it with other groups. So one group that I work with is called Combined Brain, and it's a consortium of, now I think, about 70 neurodevelopmental and neurological disorders. And I truly think that you can get much more done with working together. And it has been really amazing to see. All of the groups are not necessarily going to be able to use the same endpoints, but being able to do it together where there are overlapping opportunities, great. Where there are learnings just to understand what the process is and to drive things forward, I think is hugely valuable. So one example has been around developing disease concept models, which, of course will be different across each disorder, but they're so critical because they really define what are the impactful symptoms that matter to patients, that are really going to turn the dial for patients in terms of potential therapies. And so being able to just have a standardized process, to be able to rigorously develop those models, was a huge know. So that was one of the outputs from that.
[00:40:36] Speaker B: So one of the things that I'm realizing as we speak here, Charlene, is what's the expression and embarrassment of riches? You have a lot of opportunities for the organization to add value. How do you split time and focus between all of these very, very useful initiatives and activities that the organization could be focusing on? How do you manage all that?
[00:40:56] Speaker C: Yeah, that is something that keeps me up at night.
We have a global advocacy alliance where we have almost 700 members. We have over 5000 participants now in the RearX data collection program. And so what I have really been working to do with our team is to focus on the things that are really important and that are going to drive things forward in a dramatic way for patients and for advocates. It's really, I think, easy to go after so many things, especially as our team has different groups that are focused on different things. But I think that we have the opportunity, if we really focus on support, education and research with our strategic focuses of health equity and mental health, to really be able to have a significant impact in those areas.
[00:41:52] Speaker B: Stick to the pillarS. Is that right?
[00:41:54] Speaker C: Stick to the pillars, exactly.
[00:41:56] Speaker B: Yeah. All right, fantastic. Listen, as we close here, I'm sure one of the reasons that we're talking, one of the big challenges and opportunities for you is to get the word out. So are there places you'd like people to go? Are there messages you want to leave us with for folks who are interested and want to learn more?
[00:42:12] Speaker C: Yeah, I think two things I'd like to highlight. First of all, for those who are searching for resources, needing help, wanting to connect with others, we have a patient navigation team called Rare Concierge. I think I mentioned the patient navigation team at the beginning. They really have a wealth of resources to help people to navigate what is a very challenging situation, especially when somebody might be new to the rare disease space or suspect that they have a rare disease. And so I urge people to utilize that service and reach out to our team. It's at no cost. Also, I should mention that. And then the other thing is, if you're interested in learning more about data collection or initiating data collection, definitely reach out to us. And our first goal is to educate people. And then Rarex is an option for people in terms of being able to collect very robust data. So those would be my two kind of things I'd like to highlight.
[00:43:16] Speaker B: That makes sense. And where do they find you guys? Obviously, they can go to the website. Do you want to shout the URL?
[00:43:21] Speaker C: Yeah, it's globalgenes.org.
[00:43:23] Speaker B: Terrific. And any place else online, they should be following you guys on social media.
[00:43:27] Speaker C: Yeah. So we are on LinkedIn and we are also on.
[00:43:33] Speaker B: Right, whatever we're calling it, these.
[00:43:35] Speaker C: Exactly.
Exactly.
[00:43:38] Speaker B: Terrific. All right, well, Charlene Sunrigbe, thank you so much for speaking to us today. CEO of Global Genes, a really exciting organization and a great conversation. Thanks very much.
[00:43:48] Speaker C: Thanks, Chris.
[00:43:58] Speaker A: Thank you for listening to the latest episode of Few and Far between. Our podcast is now available on Apple Podcasts and other major streaming services. Please take a moment and leave us a user review and rating today. It really helps people discover the podcast and we read all the comments. Those comments help us to make few and far between better and better. Also be sure to subscribe to few and far between so that you don't miss a single episode. Got an idea for a future episode? Email us at
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Sam.
