Equipping The Next-Generation Rare Disease Patient Advocate

October 14, 2022

The rare disease patient advocacy organization Global Genes and the rare disease patient data sharing platform RARE-X have agreed to merge, a move they say will provide next-generation rare disease advocates the tools and resources they need to accelerate their drive for treatments. Charlene Son Rigby, CEO of RARE-X, will become CEO of the combined organization. We spoke to Son Rigby about the merger, the convergence of her personal and professional lives, and how the combination of the two organization will provide next-generation rare disease advocates the tools and resources they need to accelerate their drive for treatments.


Daniel Levine: Charlene, thanks for joining us.

Charlene Son Rigby: Nice to talk to you, Danny.

Daniel Levine: We’re going to talk about the combination of Global Genes and RARE-X, your role as the CEO of the combined organization and what this will mean. Let’s start with the headline, Global Genes and RARE-X announced that the two organizations are combining. What’s happening?

Charlene Son Rigby: So, the Global Genes and RARE-X boards came together a few months ago around this idea of a potential combination. And this was really driven by the opportunity to accelerate our ability to serve rare disease patients and advocates, and thinking that by combining our resources and strength, we would be able to accelerate our mission. After a lot of thinking about how we could really provide something very meaningful to the rare disease community, we came upon this joint value proposition, which is to provide next generation patient advocates with a continuum of services to accelerate the path from initial support and awareness through drug development using a collaborative approach with data as a central core. I read that to you because I think that there’s a lot of important components of it and looking at Global Genes in RARE-X, the two organizations are really naturally aligned to give this continuum of support and enablement that rare disease advocates need. And the thing that has really been changing is that what we’ve been seeing is that rare disease advocates are not moving sequentially anymore, where they’re starting with advocacy and kind of moving through over to collecting data and drug development. We’re really seeing that they’re really engaging in a dynamic way across that continuum of services. And so they might start on the research side and then move to community. Or I met an advocate who—her son had just been diagnosed two weeks previous and she’s thinking about how do I build community and how do I start collecting data, you know? So, we really see that the combination of the organizations will enable us to serve advocates in a more holistic and dynamic way.

Daniel Levine: Rarecast is a Global Genes product. I’m confident most of our listeners will be familiar with Global Genes in the work it does in rare disease patient advocacy and education. They may be less familiar with RARE-X and its history. Can you explain what RARE-X is and how it came about? What its work is today?

Charlene Son Rigby: RARE-X has developed an open platform for collecting patient reported data on rare disease. And we’re doing this across disorders. Importantly beyond our technology, at our roots we’re a patient advocacy organization. And so, our mission has been to enable rare disease patients to collect, structure, and share patient level data at scale. And the goal here is to dramatically accelerate our understanding of diseases and therapy development. So, patient-owned data is a really important foundational element to this because often patients don’t really have a seat at the table for research. So, enabling them to own their data and have control over how it’s shared and used really gives them a real seat at the table. At the same time, they don’t have to become experts in data governance, research protocols, survey development, and all of the other aspects that are necessary components of data collection. And then one other key aspect is that we’re very focused on breaking down data silos. So, you know, traditionally data has been generated within individual research projects within individual organizations. And oftentimes it was challenging to share that data, and it’s just a disservice to rare disease patients. Our goal is really to open up the data so that we can accelerate understanding and therapy development. And so, from a where we are standpoint, the RARE-X platform launched in June of last year, and there are now over a thousand patients and over 45 disease communities collecting data on the platform. And since we’re talking about Global Genes, I wanted to point out that RARE-X was born out of a critical need identified at Global Genes several years ago. So, this merger of the organizations is in some way a recognition of the complementarity of our work.

Daniel Levine: Well, why now? What makes this a decision for today as opposed to six months ago or a year from now?

Charlene Son Rigby: Yeah, a key realization that we had during the discussions between our boards and what’s happening today is that there’s really a new generation of advocates. Advocacy has really evolved from 10 to 15 years ago. What we see is that advocates are really involved in driving work across a spectrum of activities. And there are multiple drivers for this, including diagnosis of rare conditions because of broader access to genetic sequencing. Also, more advocates are really jumping in and starting research, de-risking research. The therapies themselves are advancing, including genetic therapies and N-of-one strategies that really enable therapy development for very small patient groups. So, what we have really seen is that the landscape of advocacy has been changing very rapidly and that the combined organization will be able to serve this next generation advocate in a transformative way.

Daniel Levine: What will the combined organization look like and what will be the range of things it does?

Charlene Son Rigby: The combined organization brings together a complementary set of programs and services from Global Genes and RARE-X so we can really serve this continuum of needs from support to awareness and community building through to research and development and for this next generation patient and advocate. And I see a great opportunity for us to synergistically grow our programs with our combined and growing team.

Daniel Levine: You’ve talked about the next generation advocate. Global Genes talks about this combination better enabling it to serve the next generation advocate. What is the next generation rare disease patient advocate?

Charlene Son Rigby: Right. I talked a little bit about next generation advocacy being propelled by multiple factors and maybe I can share a little bit more about that. In the last few years, there have been early successes for rare disease in therapy development. This includes cystic fibrosis, SMA, even newborn screening, which you know now is utilized very broadly and is continuing to expand. We have examples with PKU where changes in diet can dramatically change outcomes. So, this is really a transformative time in rare disease and today’s advocates have been become really motivated by these successes and thinking about how they can replicate them for their condition. Just because those successes exist does not mean that the road is easy. There are some things that have changed. Technology is changing rapidly, as I had mentioned, these genetic technologies, which include antisense, oligonucleotides or ASOs, and N-of-one therapies. And then on the diagnostic side, access is improving because of changing standard of care and next generation sequencing is starting to be covered increasingly by insurance. So, we have growing numbers of patients that are being identified and therapy development is becoming more possible even for very small patient cohorts. But there’s still a challenge with small patient numbers and limited interest from pharma, especially in very rare conditions. So, patients themselves are coming in to jumpstart and de-risk this research and it can be funding mouse models, but it goes far beyond that. This could be collecting high quality data to characterize diseases or it could be safety and tox studies for a therapy in development. And all of these contribute to increase the attractiveness of a condition or a therapy.

Daniel Levine: People may know you from your work as RARE-X CEO or president and co-founder of the STXBP1 Foundation. In many ways I think of you as the next generation rare disease patient advocate we talk about. How did you become part of the world of rare disease?

Charlene Son Rigby: I got started through my work in genomics. I’ve spent my career developing and commercializing enterprise software applications, and that’s mainly been in healthcare. My last company developed AI technology to integrate next generation sequencing data and phenotype to accelerate rare disease diagnostics. And ironically, I started at the company right after my second child, Juno was born. She started missing milestones around four months old and that started us on a diagnostic odyssey that lasted for three years. We finally got our answer through whole exome sequencing and it turned out that she had an atypical presentation or an atypical phenotype for a rare neurodevelopmental disorder called STXBP1. And I think what we’re all starting to realize is that this is the case for many rare diseases, that there’s significant disease heterogeneity, meaning that patient symptoms can vary a lot within the same condition and that’s really contributing to diagnostic odyssey across rare disease. And so, I entered the world of rare disease really through two paths.

Daniel Levine: I’ve heard that the first place you turned to after your daughter was diagnosed was Global Genes. What happened?

Charlene Son Rigby: Yeah, my daughter was diagnosed in 2016 and so at the time there were about 200 patients who had been diagnosed with STXBP1 disorder and there were no advocacy groups. You could really count the number of researchers on a few fingers, one hand. And so we decided to start a foundation with five other families. In 2017, our focus was to increase awareness of this very rare disorder and also to accelerate therapies and therapy development. And the first stop for us was Global Genes. So, in September of 2017, after we had started the foundation, we went to the advocacy summit and I really looked at it like a boot camp or a university and one of my fellow board members attended with me and we came out with an action list that guided us in the first activities that we held with the foundation. Those included things like how do you fundraise, how do you run a research meeting, and many more things. In fact, that was one of the places where we started really understanding about data collection.

Daniel Levine: You’ve had an unexpected convergence of your professional and personal lives. You got a BA from Stanford in human biology and an MBA from the Haas School of Business. Before joining RARE-X, you served as chief business officer for Fabric Genomics, which provides AI driven clinical insights for genomics. What do you bring to your new role from your personal and professional past?

Charlene Son Rigby: Even though rare disease isn’t something I would want anyone to experience, when my daughter was diagnosed, I realized I had skills and experience I could leverage to help her and kids like her. So, maybe there are three things that I think I bring to the table. First is organization building. I’ve been at very large organizations including Oracle and helped to manage the integration process for a number of mergers. I also have been with a number of startups, especially in the early days, taking it from founding team and growing it. So, I’m excited about the opportunity to build an organization in the nonprofit space. The second thing is technology. So, you talked about Fabric and our work there, developing AI to accelerate rare disease diagnostics and my focus has been generally how do you create scalable solutions that really accelerate work insights and the ability to really you drive forward progress. That’s, I think, an additional needed component, definitely for RARE-X, but also in this combined organization because technology really is a key infrastructure, across Global Genes as well. And then finally a grounding in advocacy and patients. So, thinking about this and thinking about my experience, how hard was it to get advocacy efforts started in a rare disease? I often think about this, about nothing ever goes fast enough, so how can we make it easier for advocates and accelerate impacts for patients? That is definitely something that is a guiding light for me.

Daniel Levine: This seems to be an inflection point for RARE-X. There’s been a lot of activity recently. There have been a number of collaborations forged, a lot of patient communities are making use of the platform, and some new efforts that are going to be before you end will push that forward. Without asking you to get ahead of the news, you did say publicly at the RARE exchange meeting that RARE-X will begin taking on genetic data in the fourth quarter. What’s the significance of that?

Charlene Son Rigby: Genotype/phenotype correlations are critical, and I know you are aware of this. RARE-X spearheaded work earlier this year to update the count of rare diseases in our Be Counted white paper. The updated number that we have that we’ve published in the white paper is 10,867 rare diseases. And that number of rare diseases is growing by about 300 per year. This is because we understand better the genetic etiology of diseases and can differentiate what was previously thought of as a single disease and now we recognize is actually multiple because of the genetics. So genomic data is a very important piece of information for research. So, we’re adding this information into the data collection program. And first step is that we’re curating genomic reports so we know the specific change or mutation that a patient has from their genetic testing. We are also doing a pilot to sequence a cohort of patients with whole genome sequencing. And this broader, deeper data is critical and also very exciting for enabling research.

Daniel Levine: We’ve seen technology transforming the rare disease space with genomic sequencing and artificial intelligence not just becoming commonplace, but I’d argue democratizing science, where small companies, individual researchers, citizen scientists, and patient organizations can leverage technology and resources like CROs to advance treatments in ways that were once unimaginable but now within reach. What do you think patient advocacy will look like 10 years from now?

Charlene Son Rigby: We’re in a very exciting time for rare disease and we have a real potential to accelerate our ability to address many diseases so we’re not developing therapies incrementally for individual rare diseases. Platform approaches and automated approaches are really critical for transformation and acceleration. At the same time, N-of-one approaches are for individual rare diseases or actually for individuals. And so what I see from a technology perspective is that there’s a convergence. Platform approaches are going to enable N-of-one and N-of-one will enable us to go from treating one patient to treating more. You were asking about what is patient advocacy going to look like 10 years from now? And I like the term you use “democratizing” because I see that patient advocates will be leading sophisticated therapy development efforts and that there will be a lot of providers who advocates can work with to assemble the pipeline they need. One example of this is Casey McPherson’s recently formed Everlum that is a CRO that’s very focused on supporting therapy development for very rare diseases.

Daniel Levine: As you go forward, how do you see Global Genes’ role evolving and how will you measure its success?

Charlene Son Rigby: I think it’s pretty simple. It’s all about impact for patients and advocates and those questions that we were talking about a few minutes ago: How can we make it easier for advocates and how can we accelerate impact for patients?

Daniel Levine: Charlene Son Rigby, the newly named CEO of Global Genes. Charlene, thanks so much for your time today.

Charlene Son Rigby: Thanks Danny.

This transcript has been edited for clarity and readability.


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