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Rare-X Wants to Build the Data Infrastructure for Rare Disease Research

Episode Summary

For people with common health problems like diabetes or high blood pressure or high cholesterol, progress in pharmaceuticals has worked wonders and extended lifespans enormously. But there’s another category of people who tend to get overlooked by the drug industry: patients with rare genetic disorders that affect only one in a thousand or one in two thousand people. If you add up all the different rare genetic disorders known to medicine, it’s actually a very large number; Harry’s guest this week, Charlene Son Rigby, says there may be as many as 10,000 separate genetic disorders affecting as many as 30 million people in the United States and 350 million people worldwide. That’s a lot of people who are being underserved by the medical establishment. Rare-X, the non-profit organization Rigby heads, is trying to help by creating a common data infrastructure for rare disease research. The basic idea is to take the burden of data management off of rare disease patients and their families and create a single central repository that can help accelerate drug development.

Episode Notes

For people with common health problems like diabetes or high blood pressure or high cholesterol, progress in pharmaceuticals has worked wonders and extended lifespans enormously. But there’s another category of people who tend to get overlooked by the drug industry: patients with rare genetic disorders that affect only one in a thousand or one in two thousand people. If you add up all the different rare genetic disorders known to medicine, it’s a very large number; Harry’s guest this week, Charlene Son Rigby, says there may be as many as 10,000 separate genetic disorders affecting as many as 30 million people in the United States and 350 million people worldwide. That’s a lot of people who are being underserved by the medical establishment.

Rigby is the head of a new non-profit organization called Rare-X that’s trying to tackle a systematic problem that affects everyone with a rare disease: Data. In the rare disease world, Rigby says, data collection is so inconsistent that each effort to understand and treat a specific disease feels like reinventing the wheel. For longtime listeners of the show, that’s a familiar story. Time and again, Harry has talked with people who point out the harms of storing patient data in separate formats in separate silos, and who have new ideas for ways to break down the walls between these silos. Rare-X is trying to do exactly that for the rare disease world, by building what Rigby calls a federated, cloud-based, cross-disorder data sharing platform. The basic idea is to take the burden of data management off of rare disease patients and their families and create a single central repository that can help accelerate drug development.

Harry talked with Rigby about the challenges involved in that work, how it gets funded, how soon it might start to benefit patients, and what it might mean in a near-future world where every child’s genome is screened at birth for potential mutations that could lead to the discovery of rare medical disorders.

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Harry Glorikian: Hello. I’m Harry Glorikian, and this is The Harry Glorikian Show, where we explore how technology is changing everything we know about healthcare.

For people with common health problems like diabetes or high blood pressure or high cholesterol, pharmaceuticals has worked wonders and extended lifespans enormously.

But there’s another category of people who tend to get overlooked by the drug industry.

And that’s patients with rare genetic disorders.

By definition, rare diseases are rare, meaning they might only affect one in a thousand or one in two thousand people.

But here’s the thing. If you add up all the different rare genetic disorders known to medicine, it’s a very large number.

My guest today, Charlene Son Rigby, says there may be as many as 10,000 separate disorders affecting small populations.

And if you count everyone who has these conditions, it may add up to as many as 30 million people in the United States and 350 million people worldwide.

That’s a lot of people who are being underserved by the medical establishment.

And Rigby is the head of a new non-profit organization called Rare-X that’s trying to fix that.

Now, there are a lot of rare disease organizations that are looking for a cure for a specific condition.

Rigby actually came to Rare-X from one of those, the STXBP1 Foundation, which is searching for a treatment for a rare neurological condition that affects Rigby’s own daughter Juno.

But Rare-X is a little different.

It’s trying to tackle a systematic problem that affects everyone with a rare disease.

The problem is data.

Rigby says that in the rare disease world, data collection is so inconsistent that each effort to understand and treat a specific disease feels like reinventing the wheel.

For longtime listeners, that’ll be a very familiar story.

Time and again I’ve talked with people who point out the harms of storing patient data in separate formats in separate silos, and who have new ideas for ways to break down the walls between these silos.

Rare-X is trying to do exactly that for the rare disease world, by building what Rigby calls a federated, cloud-based, cross-disorder data sharing platform.

The basic idea is to take the burden of data management off of rare disease patients and their families and create a single central repository that can help accelerate drug development.

I talked with Rigby about the challenges involved in that work, how it gets funded, how soon it might start to benefit patients, and what it might mean in a near-future world where every child’s genome is screened at birth for potential mutations that could lead to the discovery of rare medical disorders.

Here’s our full conversation.

Harry Glorikian: Charlene, welcome to the show.

Charlene Son Rigby: Thanks. Nice to be here, Harry.

Harry Glorikian: So I’ve been reading about what you guys are doing. I mean, all of it sounds super exciting. I’m, you know, been looking into this space for a long time from a rare disease, but many different angles of it. But can you just start off, tell us a little bit about yourself and how you got active in this world of rare disease research?

Charlene Son Rigby: Yeah, thanks for that question. So I’ve spent most of my career building scalable software solutions for analyzing big data, and that’s been both in health care as well as enterprise software. And so I’m now the CEO at Rare-X where we’re building a platform to analyze rare disease data cross-disorder. And prior to being at Rare-X, I was the chief business officer at a company called Fabric Genomics, where we developed artificial intelligence approaches to speed diagnosis of patients through genomics. We had a considerable focus on rare disease and contributed to projects like the 100,000 Genomes Project and also the work that Stephen Kingsmore is doing at Rady Children’s with diagnosing critically ill newborns in the NICU. And so when I started at Fabric, my daughter Juno was ten weeks old. She’s my second child. And it was kind of a fortuitous timing, in some ways kismet, because at when I started at Fabric, I didn’t know that she was going to start experiencing issues with her development. But at around four months she started missing milestones. And that started us on a three and a half year journey to find an answer to what was going on with her. And so during that time, we went through many, many tests, including genetic tests, MRIs, all kinds of all kinds of things, and everything kept coming back as negative or inconclusive. And so I was working at a genomics company, and so I kept pushing for whole exome testing, which at that time was still not, not readily available clinically and by insurance was still considered experimental. So we were denied three times, until we finally were able to get authorization in 2015. And so in early 2016, we got my daughter’s diagnosis and she has a mutation in a gene that’s involved in communication between neurons and the genes called STXBP1.

Charlene Son Rigby: And so it’s very rare. Thirteen kids born a day somewhere in the world. So thinking about Juno and thinking about this from a science standpoint, that it was pretty interesting that when she was diagnosed because she didn’t have a classic phenotype for STXBP1. So most kids, 90% of the kids have seizures. And she has more of the symptoms around developmental delay, low muscle tone, cognitive issues and delayed walking and motor issues. And, you know, this this kind of challenge around these atypical phenotypes, I think, is actually becoming much more common in disease generally, so in rare disease and also more broadly in more common conditions as we’re really starting to understand kind of the true breadth of patients. So in terms of your original question about my journey through rare disease, so I went on to co-found the STXBP1 Foundation to accelerate the development of therapies for kids like my daughter. And then coming to Rare-X was really a kind of joining of my software background with my passion for rare disease and really wanting to do something more broadly for the rare disease community.

Harry Glorikian: I have to tell you, like what you said, three and a half years, I’m like, oh, my God. Like, I would be I have so many stories. And like when I was at Applied Biosystems and, you know, we’re doing all this work. It just boggles the mind that some of these things are not really readily available to help get over that diagnostic odyssey for especially parents, because you’re going to do anything to help your child. I’m glad it’s actually moving theoretically faster these days. I’m not sure if insurance has actually kept up, but we’re, on the technology side, I know we’re everybody’s pushing the envelope now. But when we talk about rare disease and you did some of the numbers but we hear about these rare diseases, I think a lot of people think of like there’s an n of 1, right? They assume that this disease only affects a tiny number of people. Right. Maybe just one or a handful worldwide. But I mean, the fact is, if you add up all these different rare genetic diseases that exist in the human population, the number of people is actually pretty big. I mean, can you sort of. Put that into some sort of scale for us in what you’ve seen.

Charlene Son Rigby: Yeah, you’re absolutely right. You know, rare disease is by definition rare. And so it’s easy in some ways to be dismissive of a rare disease because, oh, it’s only affecting a few people. And it’s true that a single rare disease can affect a very small number of people, even down to the n of 1 case that you talked about. From a definition standpoint, so, in the US, rare disease is defined as a disease affecting fewer than 200,000 Americans. And in Europe, in the EU, it’s defined as affecting no more than one in 2,000 people. So we even though for ultra rare or n of 1 diseases, we can be talking about a small number of people, or like in my daughter’s disorder, we can be talking about low thousands, there are still thousands of rare diseases and the traditional number that we hear a lot is 7,000. So 7,000 rare diseases. Rare-X is about to come out with some research that indicates that there are over 10,000 individual rare diseases, and this is really due to our growing understanding of genetics. So previously we might have grouped together a set of disorders based on what the symptoms were like. But now we understand that those actually are due to a different genetic etiology or different cause at a genetic level. And so if you aggregate all of those people up, across those 10,000 rare diseases, you know, what we’re looking at is one in ten, potentially one in ten people in the world. And so in the US that’s about 30 million people and in total 350 million people worldwide. So it’s really a huge number of people. And from an impact standpoint, it’s staggering when you look at the impact from a health care standpoint and from an economic standpoint.

Harry Glorikian: Yeah, I mean, if you can diagnose, I mean, if there is a way to treat someone, then you get to it faster. And the economic impact is huge and unfortunately, if there isn’t, maybe it spurs a pharmaceutical company to, you know, start working on it or figure out a way to treat that patient better. But at least you, I always tell people, the better the diagnosis, the better the next step. I see people sometimes, it seems like they’re throwing a dart, you know, and they’re it’s an educated guess, but it’s not, you know, the accurate diagnosis that you’d like to have. So. But how and where, when was sort of Rare-X born and what are you trying to do with the organization? What do you want to fix?

Charlene Son Rigby: Yeah. So Rare-X was a pandemic baby. The organization was started in early 2020 and I just joined the organization last year. But, you know, it’s really been quite a journey being able to have the, launch the platform during COVID. And I know we can talk about that in a little bit, but the unsolved problem that we are working to address is really around collecting data for rare disease. And one might ask, well, why is this an issue? I’ll give an example. From the early days of the STXBP1 Foundation. W e assembled our scientific advisory board and we got together for our first scientific meeting. And we were going to develop our roadmap so that that would guide our priorities in terms of scientific development. And we were all very focused on therapies. So my expectation going into the meeting was we were going to talk about all the mice models we were going to build. What did we need to do in the lab? How are we going to get to that first therapeutic candidate? And the number one priority that came out of that meeting was to build a prospective regulatory-compliant natural history study. And so it was a huge learning for me because if you look at the kind of canonical steps in terms of drug development, it’s always preclinical and then you move into clinical. And what I think that kind of simple model misses is this foundational layer around the data that you need and the real kind of understanding of the symptoms and the disease progression that is critical to building effective therapies, developing effective therapies.

Charlene Son Rigby: And so that’s really what Rare-X was started to do, was to enable the gathering of this data, the structuring of this data and enable it to be shared and to do this at scale. So, cross-disorder. And there are several problems today that that make this challenging. And so maybe I can talk a little bit about that. There are three or four of these significant challenges. So today some of this data does exist, but it’s often kind of trapped in data silos. So it was generated in an individual project that might have happened in academia or industry. And then the data is often really only accessible to the group that collected it. And in rare disease where we don’t have that many patients, it really makes it challenging to create a kind of more comprehensive understanding and picture of the patients if that data is trapped in these individual silos.

Charlene Son Rigby: Another challenge that that we’ve seen is the lack of usable data. So individual studies may not include the key data that’s needed to drive drug development forward. So some of these data repositories, they might either be a symptom specific. So they’re looking at a specific organ system that might have been of interest to that researcher. So they’re an incomplete picture. Or some of these repositories or these registries were started by passionate parents. You talked about that, the urgency that one feels as a parent, that I feel as a parent. And the registry may have been structured or the questions may have been structured in a way that isn’t necessarily immediately usable by researchers because of the fact that it was started by a parent who, like you, you might not have had a statistical analysis background, you might not have had a survey methodology background. And we so those can be challenges in terms of having the data be robust and usable later.

Charlene Son Rigby: And then the other thing that can be challenging and probably is often the most challenging is, is especially in these very, very new diseases, there’s no data, and it takes quite a bit of funding to start data collection. Often, often passionate parents are going around trying to get researchers interested in their disorder. But it’s often that you have to have a little bit of data to get a researcher interested. And so this is a huge challenge in terms of implementing data collection. And the other thing that kind of underlies this is that patients often are not empowered in this process. And so that was a fundamental piece of the way that we’ve structured Rare-X and the way that we collect data and the way that we enable patients to participate in the process to power data collection.

Harry Glorikian: Yeah. I mean, it’s, you know, they make movies out of this, right? People trying to push this boulder up a hill. So, what are the new ideas that say Rare-X is bringing to the table? I mean, your organization has called for like, you know, the largest data collection and federated data system and analysis platform in rare disease. So, I think unpacking that statement because it’s a big statement, right, of, you know, what are you doing to improve data collection? What do you mean by federated, for those people that are listening? And why is it important? A  nd how will the platform enable better analysis of this rare disease data?

Charlene Son Rigby: Yeah. Great question. From a design perspective, the one of the things that we wanted to do was make sure that the platform was cross-disorder. So a lot of registries are started for an individual disorder. And what we really wanted to be able to do was given that number of 10,000 diseases, how do we scale to support so many disorders to accelerate therapies? And so a fundamental design principle was to do that cross- disorder. The other piece of this is that we are focused on patient-reported data. So typically a participant will join the research program, create an account on the platform and they are either a patient or a caregiver of a patient and providing information on their symptoms. There is a lot of other data out there in the ecosystem that could come from other related registries, or it could come from clinical data, it could come from many different types of studies. And so we really want to enable the aggregation of or federation of that data. So you asked me to define that term. It really means bringing together multiple different data sets in a way that enables those data sets to be analyzed together. And I think, again, going back to this theme that for any individual rare disorder, there aren’t that many patients. And so analyzing that data, kind of individually, we are really missing the opportunity to maximally use the data that’s been contributed by rare disease patients. And I would even argue that it’s a moral imperative for us to do that as a rare disease community, because we urgently need to move these understanding of these disorders forward in development of therapies as well.

Harry Glorikian: I almost wish I could take all the companies I know doing this and put them there so the n goes up for everybody. But I know that there’s all sorts of reasons that that doesn’t happen. But, you know, when you were saying we’re pulling in patient-reported data, you know, the first thing, and we talk a lot about this from different groups on the show is, you know, would a wearable or one of these other devices that are now available give you more granular, real- time information that might be valuable to this sort of study. And have you guys considered things like that?

Charlene Son Rigby: T he short answer is yes, because the our desire is to really continue to expand the types of data that are collected. And the I think that the nice thing about mobile, mobile devices, wearables, is that it makes it very easy to collect that data. And so we have a partnership with Huma. They do work in the mobile space. And we’re definitely continuing to evaluate where we can develop partnerships there. I mean, our goal overall is to de- burden patients and so that the, if we can do that in a way that additive to an overall body of research, then we’re huge proponents of it. And I think that it’s also important that we’re really trying to create an open system. So our partnership model is a very, very open partnership model in terms of who we can work with.

Harry Glorikian: Yeah, I had a really extensive conversation with the head of data sciences at WHOOP yesterday and you know, they’re pulling in somewhere between 50 and 100 megabytes of data per patient per day. I shouldn’t say patient — per individual per day. Right. I was like, that’s a lot of data. And she was, you know, the kid in a candy store because they’re she’s like, we can really see what’s happening with people. And you can ask questions at a scale that you couldn’t ask before. Like she was saying, you know, the last one of the things that we’re working on publishing is 300,000 people. You couldn’t imagine that in the world of, say, a clinical trial of 300,000 people are just going to, you know, and you have all the data, almost 24/7 on this person that’s delivered by this device, which is sort of interesting, you know, place to be. So, you know, I know that you don’t have 300,000 people in one in one area, but it’d be interesting to have that sort of 24/7 data available from these kids if you could, you know, get a device that would lend itself to that. But what stage is the company at in building the platform and you know, I guess the killer question is, when will drug developers or other researchers be able to start using it? If they already are, do you have any early success stories you can share?

Charlene Son Rigby: Yeah, yeah. It’s really a very exciting time at Rare-X. So the platform launched last summer and we have over 25 communities on the platform. And those encompass several hundred participants already. So we’re really starting to see some exciting numbers in terms of in terms of participants. So we are launching our researcher portal at the end of Q2. So very soon. And at that point, any researcher, so academic researchers, pharma researchers, will be able to access the data and be able to utilize analytical tools to really interrogate the data. I’m excited that we also have launched our first sponsored program, and that’s with Travere. They’re supporting the homocystinuria community to start data collection, to start a registry. And we just launched that at the end of February.

Harry Glorikian: So I want to. Jump back, like just talking through some of the biggest technical challenges along the way. I mean I know one of your goals is like interconnecting all these disparate data sources. But one of the issues that always comes up is how do you clean up that that existing data so that you can store it all the same way. And then obviously that enables somebody to then do the analytics right after that. But the biggest issue that I hear from a lot of people is, man, it takes a lot of effort to make sure that that data is cleaned up and put in the right place.

Charlene Son Rigby: Yes, the data munging. Yeah. I mean, I think that that is really the, a significant challenge, because creating research-ready data and then harmonizing data sets is a huge amount of upfront work that has to happen before you can actually do any of the analysis and the data mining. So what we have done with the core data that’s being generated within Rare-X is that we have mapped it to data standards. So we utilize standards like the human phenotype ontology, OMIM, HL7, so that the data that we’re producing already is mapped to all of these generally utilized standards. And then we would if we were working on a federation project, the same thing would need to happen with these other data sets to really enable that type of integrated that type of integrated analysis. And you’re right, it’s it can be a very brute force effort in terms of doing it accurately. And that’s why I think that it’s really important from a from an industry perspective to really start adopting these standards and putting them into the base model, you know, for assuming just making the assumption up front that the data is going to be federated and utilized downstream. I think that kind of traditional studies, a lot of the scope was more really looked at in terms of what are we doing with the data today? And we need to be really thinking about from a lifetime perspective, how is this data going to be used?

[musical interlude]

Harry Glorikian: Let’s pause the conversation for a minute to talk about one small but important thing you can do, to help keep the podcast going. And that’s leave a rating and a review for the show on Apple Podcasts.

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And one more thing. If you like the interviews we do here on the show I know you’ll like my new book, The Future You: How Artificial Intelligence Can Help You Get Healthier, Stress Less, and Live Longer.

It’s a friendly and accessible tour of all the ways today’s information technologies are helping us diagnose diseases faster, treat them more precisely, and create personalized diet and exercise programs to prevent them in the first place.

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And now, back to the show.

[musical interlude]

Harry Glorikian: Now if we go one step before like getting that data, I mean. I have to imagine there’s a huge political, bureaucratic or organizational challenge when it comes to who controls that data. And I think I have to assume,  part of your job is convincing them to share it, right, despite its potential as intellectual property. Right. So how do you get on the phone and say, “Why don’t you press send and shoot that over to me and so that we can take the next steps with it?”

Charlene Son Rigby: Yeah, well, this is a really significant challenge, and I think that we’re in a time of change in terms of attitudes around this. And part of it is what’s been happening in terms of national programs to collect data. And people are starting to see the benefit of being able to share and really utilize these larger data sets. But the reality today is that in terms of the status quo, researchers control the data, and that’s because the data was generated in a specific project that might have happened in academia or in industry. And there’s a challenge with alignment of incentives. So on the academic side, I think that if one were to ask a researcher, do they want to hoard data, they don’t want to hoard data. But the reality is, is that we still have this challenge with academic tenure and needing to publish or perish in that environment. And so researchers are still rightly concerned because of that paradigm that they have to write their paper and get their paper in before they can feel comfortable with allowing others to access the data. And so something really needs to happen there to that incentive system.

Charlene Son Rigby: And in pharma, interestingly, I think that that’s also an area where there has been a feeling that data is almost akin to intellectual property. But I think that especially in rare disease, there has been a growing understanding that accessing natural history data is not going to, at the end of the day, enable pharma to win because they’re going to win on the quality of their therapeutic pipeline and how quickly they can get those therapies through to a successful market approval. And so what we’ve been really working to do is position natural history data as pre-competitive and for rare disease, frankly, it’s too expensive to build these data sets, you know, alone. They’re, as we scale to all of these disorders it’s going to become untenable to for each company to build their own data set. The thing that we need to do and what Rare-X has been working to do with our collaborators is to transform the way that research has been done and initiated and break down these barriers and just show that the model of building these pre-competitive collaborations can work, both from a how does the business model work and then how is the data shared? And so I think that Rare-X being a nonprofit and a kind of neutral third party is really additive in terms of building those relationships so that this, this kind of public-private partnership model can really serve as a way to drive this type of change.

Harry Glorikian: Now. Okay. So we’ve talked about industry sharing data, but I always I mean, especially in the last maybe 5 to 10 years, I keep thinking about, you know, how much of this comes directly or will come directly from patients, right? If they have control or access to their data, they have the ability, theoretically, the ability to then share that data. Right. And it could be just for the research in general as opposed to, not specifically to find a cure for a specific disease. So how do you get that data or convince patients to share it?

Charlene Son Rigby: Yeah, well, I think that in in rare disease patients are typically highly motivated. You know, there are many rare diseases that can be pretty devastating in terms of the symptoms and the disease progression. And so overall, there is a a good portion of the rare disease population that is motivated to provide their data. And so what we do there and I think that that your points about the paradigms and thinking about it, that the patients are sharing their data, is really important. Because I think that that gets lost a lot. You know, a patient, and we’ve all signed up for some research study in our lives. You go and you fill out a survey or you contribute a blood sample or something, but oftentimes the patient contributions get forgotten because it becomes part of the researcher’s data set. And so the what we’re really trying to do is turn around that kind of paradigm with a core principle that patients are the ones who own their data and they’re contributing their data. And so we enable them to, through an innovative consent process, we enable them to basically say that, yes, they’re willing to share their data for these types of projects, and they can change that at any time. And we really feel that that changes the paradigm and allows them to have a real seat at the table. And then I wanted to also talk about, because obviously not everyone is — there is this proportion of folks who are motivated and trust and that’s part of the reason that they will be willing to share their data — but there is also a portion of the population that might not be as motivated. And so it’s important for us to be able to reach those populations and to build trust in the approach that we’re taking and the value of it in terms of really being able to drive research. And so patient education is an important component of our model patient education, patient engagement. So we work directly with patient advocacy organizations and patient advocates to educate their communities on the value of data collection, how it really spurs and supports research. I think that that’s a critical component to this as well.

Harry Glorikian: Well, hopefully people will listen to this podcast worldwide and me that may spur someone to search you guys up on the web. But I noticed that another principle of the company is you don’t sell patient data, right? Does that mean you’re giving it away? And if that is true, what’s the criteria of doing that? And do your data partners that you’re giving it to have to meet certain standards?

Charlene Son Rigby: Yeah, this is a great question because monetization models around data are very, very common today. Some companies have built significant valuations around data monetization. And for from a Rare-X standpoint, and this is part of the reason why we were started, is that the question was asked like, is that the right thing to do, especially for diseases where we’re in the very early stages of understanding a disorder, and so I talked about this a little bit earlier, that if you have no data, getting any researcher interested is already then a huge challenge. And so we’re here really to break down barriers to advancing rare disease research and encourage that research. And so I say sometimes that it’s really important that we free the data. So we don’t sell data at Rare-X. And we have an open access model for researchers to access the data.

Charlene Son Rigby: And so there it is not, “we open the doors and anybody can come, come and access the data.” It’s done in a responsible way. So one of the key things is that the data is de-identified. And so it is it is critical to do that, because we want the data to be utilized for research. It doesn’t need to have identifiable information in it to drive that research forward. You know, the second thing is, is that researchers need to submit information on their project, and then that’s reviewed by a data access committee. And the idea behind this data access committee is not to slow down things. It’s a streamlined and efficient process. But the idea is that there is a review process. The researchers need to specify whether there’s an IRB with whether that protocol has gone through an institutional review board review, and patients can opt to only have their data. As an example, patients can opt to only have their data shared with projects that have gone through IRB review. So there’s really kind of a, since this is in many ways a two sided platform, there’s really a way that patients can actively engage in terms of who’s accessing their data. And then the researchers also in terms of the types of projects that they’re that they’re going to put forward.

Harry Glorikian: Okay. So now you’re giving away the data. Remember, I’m a venture capitalist, so you’re giving away the data, right? First question somebody like me asks is, how do you pay for the operations? I mean, you’re building this fairly sophisticated system that is, you know, you’ve got to clean the data, you’ve got to make it available. You’re trying to talk to all these people. I mean, are you funded by let’s say, I mean the typical stuff, grants? Is it member donations? Is it major gifts from individuals? You know, those are all the questions that that would cross my mind.

Charlene Son Rigby: Yeah, absolutely. So frankly, it took me some time to get my arms around this, because my whole career has been in tech and venture backed companies. And so so I took some time to really think about this and think about this scalable model from a scalability standpoint before joining. So we get our funding largely through pharma and industry, as well as some grants. And the way that that funding happens is, it’s basically platform investment. And I think that this is a really key thing from my perspective of, of thinking about the, the platform as something that is, if you will, a social good. Because they’re investing in expanding the platform. They might invest, like Travere did, additionally to help to onboard specific groups or expand our capabilities in terms of being able to gather data in a particular disease area. But the funding that they’re providing is to make the platform and the research program more robust. The data at the back end will be open in the way that we’ve we have talked about it. We have a unique ability to do that and create that kind of model as a nonprofit. And you’re right that what we’re doing, we’re kind of blending this health tech company with this this nonprofit  tmodel. But I think that there are some good examples out there of public private partnerships that have been very successful in the long term in doing this. And that’s the model that we’re really pursuing.

Harry Glorikian: This area is small. I feel like I’ve been in and around it for a long time because of, you know, being in and around genomics. But there’s a small but sort of growing infrastructure of support for rare disease, you know, patients in the world, sort of nonprofits, NGOs, patient advocacy group. Tthere’s Global Genes, right? There’s the Rare and Undiagnosed Network, RUN. There’s the Undiagnosed Disease Network Foundation, and then there’s the n-Lorem Foundation. And so many others that I don’t want to leave out, right, the long list. But how does your, or, does your group overlap with these? I mean, I was reading a press release that this summer you guys will launch a collaboration with RUN and the Undiagnosed Disease Network Foundation to launch something called the Undiagnosed Data Collection Program. I mean, if you could sort of talk about what that project is about. Is your real ambition to be the data infrastructure sharing platform for the entire community of rare disease patients and families?

Charlene Son Rigby: Yeah, well, I love that you call it infrastructure because I think this is critical from a concept standpoint. Rare disease should not be a model where each rare disease is doing it on its own. That was one thing that really struck me, thinking again about my daughter’s disorder, where we were looking at ways to ladder up to that prospective natural history study. And we were trying to do something. I talked to a few other genetic neurodevelopmental conditions that were kind of our cohort, if you will, and we were all doing it in different ways. And it’s such an opportunity cost to be figuring out the model new each time. And so these groups like Global Genes, amazing organization, actually, the Rare-X founder, Nicole Boyce, was also the founder of Global Genes. And we were, the STXBP1 Foundation used every single resource possible that came out of Global Genes. You know, that there’s this broad this really broad education and enablement that needs to happen for people who want to become rare disease advocates. And that Global Genes has really done that in a tremendous way for so many organizations and so many individuals. And so we partner with them in terms of, and are very complementary, in terms of providing that infrastructure where Rare-X is focused on this area of how do you accelerate research through data collection, and then we use that.

Charlene Son Rigby: It’s great that you saw the announcement on the work that we’re doing with RUN and the UDNF. I’m particularly excited about this because Rare-X, we talked earlier about ultra rare diseases, about n of 1 diseases. The reason why Rare-X is able to collect data across all of these disorders is that we have a fundamental assumption in the way that we collect data, which is that we don’t assume that anybody does or does not have any symptoms. So we start out with a very high level, head to toe type of set of questions that if you say yes to any of them, it leads into a more detailed set of questions to collect data on particular symptoms. And so this is really ideally suited to situations where there isn’t a lot of characterization around or understanding of the symptoms in a disorder and where you don’t have a diagnosis. Because then what we’re really enabling an individual to do is to gather robust data about their individual symptoms and disease progression that then can be utilized for research. And so we’re very excited about being able to work with and support RUN and UDNF in in that effort.

Charlene Son Rigby: And so do we have, you asked about ambition? You know, do we have a goal of being the only data sharing platform? I would say that our goal is to be an incredibly robust comprehensive cross- disorder platform. We believe that the way that we are approaching things really is enabling us to support all rare diseases. And we’re really focused on de- burdening patients. So we’re enabling patient communities to get started very quickly. And they don’t have to become experts in protocol development, they don’t have to become experts in creating clinical outcome assessments, etc. At the same time, the world is large and that they’re going to be groups who decide that they need specific solutions. They may want to take on the role of being a principal investigator, as an example. And so I think that that’s also the reason why federation is an important component of what we’re really bringing forward as a as a way to bring all of that data together.

Harry Glorikian: So again, you know, being on the venture side, right. You can lead a horse to water, but you can’t make them drink, right? So you can do a lot. You can improve clinical trial readiness. You can make sure the data is better about rare disease patients, and that it’s available. But you can’t force the drug discovery companies or the drug makers to sort of develop a cure for a specific disease. Right. How do you think about that as part of a rare disease problem? Is that is that part of the work that Rare-X is,are you making it less risky so that they are willing to take that next leap?

Charlene Son Rigby: You’re right that pharma is going to be making, I would say, rational business decisions based on commercial drivers. And the challenge with a lot of rare diseases is that no one knows about that individual rare disease, and there isn’t much data on it. And so anything that can be done to de-risk that process for a pharma company  is huge in terms of increasing their interest or generating interest for them and then increasing their interest. And those things can include knowing that there’s an activated community, you know, because if you have a clinical trial and nobody wants to participate in the clinical trial, that’s going to be a huge problem in terms of being able to get that drug through an approval process. And so Rare-X, by building a very robust data set, is able to de-risk that process in terms of that investment, of trying to understand what the disorder is and also trying rto understand disease progression. And going back to that point about activation of the community, we’re also able to help to demonstrate the activation of the community because of the number of people participating in the in the data collection.

Harry Glorikian: I know it’s not science fiction. I think it’s right around the corner, hopefully, but I think, isn’t an ideal future where we do either whole-exome or preferably whole genome on every newborn and scan for these genetic changes that are associated with rare diseases. I mean, I’m assuming that would really push this area much farther along. And if that is true, if that statement is true, how long do you think it’ll take for us to get there?

Charlene Son Rigby: Wow. You’re reminding me of the Gattaca movie, but hopefully that’s not the real future for us, you know. Winding things back. So my daughter was born, my daughter Juno was born in 2013. So that’s nine years ago. And it took three years for us to get a diagnosis. And, you know, that’s like an entire other podcast. But I think that the really, if we fast forward to 2022, we have groups like Stephen Kingsmore’s group at Rady Children’s where they’re diagnosing newborns who are in the NICU, in less than 24 hours. And even standard exome testing, which it took us three months to get our results, the standard exome testing results are now returned in less than two weeks. You can also get it faster if you have an urgent testing and we have the tech. Illumina has long been dominant and continues to be dominant in the clinical area. But you have these new entrants with Oxford Nanopore, Element, Singular, and there are others that are entering now. And so these costs are coming down and this is really going to be a transformative in terms of becoming, I do think that this is going to become standard of care and it’s closer than we think. I think that it’s probably going to be in the next ten years, less than ten years.

Charlene Son Rigby: We already have some analogs to this in terms of or precursors, I should say, in terms of newborn screening. And so what I think is going to happen is that genomic sequencing is is going to become a core newborn screening tool. And the interesting thing is that there are applications, not just in rare disease, but also in common conditions and the value of genomic sequencing. So today, 5% of rare diseases have a therapy, but there are right now hundreds of gene therapies that are currently in preclinical and clinical pipeline. So this picture is going to change enormously in the next five years. And so because the value of is going to grow, because there are therapies, the other important thing is therapeutic windows. So therapeutic windows are when we can intervene to have the most impact on a disorder. And so that’s often when someone’s young before the symptoms present or start or very early in that process. And so I think that this is going to become a reality in the next decade. And frankly, I think it’s a very exciting time. I have always been a big believer that knowledge is power. And this is this is one of those great situations where we have the ability to do something because we know.

Harry Glorikian: Yeah, I talk about some of this in my book and there’s some, you know, interesting stories and it’s a fascinating time. And when I think back, you know, to when we first started sequencing and people would say, why would you want to sequence anything? And now it’s the complete opposite. And the price is coming down. It’s becoming easier and faster. And I mean, at some point, I think the price is going to be low enough between the actual sequencing and then the analysis, that as my friend says, it’s going to be a nothingburger. I mean, it’s just going to be like, yeah, we should just do that because it gives us the information we need for the next step, which is sort of going to be interesting.

Charlene Son Rigby: Yeah, absolutely. I think that the that is the challenges that I talked about, cost of sequencing. But you’re right that, you know, the analysis is still quite expensive today. And that’s something that we’re also going to need to need to improve. I mean, AI and the growing knowledge bases is really going to help to address that. Yeah. And but that’s a huge component of it as well today. Absolutely.

Harry Glorikian: Yeah. I’m looking at a company that in this particular area of oncology, they’ve gotten the whole genome analytics down to about $60. So it’s, you know, it’s coming to a point where you’re like, why wouldn’t you do that? Like, what’s stopping you from doing that? So it’s been great having you. Great conversation. I wish you guys incredible success. A nd I’d love to keep up on how things are going with the organization.

Charlene Son Rigby: That’d be great, Harry. Really enjoyed it today. Thanks.

Harry Glorikian: Thank you.

Harry Glorikian: That’s it for this week’s episode.

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