Naji Gehchan: Welcome to SpreadLove in Organizations, the healthcare leadership podcast where we explore leadership with purpose.
This episode is in partnership with the Termeer Foundation, a nonprofit organization working to vibrantly connect and empower the world of healthcare innovators until every patient has a cure.
I am Naji your host, joined today by Charlene Son Rigby, Chief Executive Officer of Global Genes. Charlene has spent her career building organizations at the intersection of data, technology, and life sciences. Charlene led the merger between Global Genes and RARE-X, a health technology nonprofit. She was previously Chief Business Officer at Fabric Genomics and held executive roles at enterprise software and genomics companies, including Oracle and Doubletwist. She started her career in neuroscience research at Roche. When Charlene’s daughter was diagnosed with a rare genetic disease, she co-founded the STXBP1 Foundation. She is committed to finding a cure for her daughter’s disorder. Charlene’s unplanned connection between her personal life and profession has helped push forward the search for a cure for her daughter and kids like her, and given her work deeper meaning. Charlene is a Termeer Scholar. She holds a B.A. in Human Biology from Stanford University and an M.B.A. from the Haas School of Business at U.C. Berkeley.
Charlene Son Rigby: Thanks so much for having me, Naji.
Naji Gehchan: I’d love first to hear more about your personal story and how it links with the really important and impactful work you are doing today.
Charlene Son Rigby: Yeah, so I am a parent of a now 11-year-old who has a rare, rare neurodevelopmental disorder called STX BP one, and my daughter. So my daughter was born in 2013, and. A few months after she was born, she started experiencing delays and we kept hoping that these were just, uh, temporary and she was going to, she was going to norm.
But it became pretty obvious after she was six or seven months old that, you know, she was. Not, um, moving toward kind of typical development. And so we pushed really hard with her pediatrician and we were able to get to, uh, a geneticist at University of California, San Francisco. So we live in San Francisco and they, that started for us a three year journey to try to find out what was going on with my daughter.
So we went through, you know, something like. 27 different tests. We were finally approved for, uh, genomic sequencing, whole exome sequencing. And that gave us an answer that she had a mutation in this gene that was involved in communication between neurons. Um, so it was a really difficult answer, and I think that no, no parent or patient wants to get this type of answer and.
At the same time, it was very, very, an important piece of information because it gave us a door, it gave us a key to, you know, what we could possibly do next for, you know, for my daughter. And so. We were given a couple of scientific papers by the geneticist and a printout of a Facebook group, and after a few months, I finally got the courage to join the Facebook group, and we found five other families and started a foundation for, for St.
Xb P one. Really our goal was to accelerate research and kickstart therapies. We were really quite lucky because even though it was a very, very small disorder, so at the time there were 200 kids who had been diagnosed. There was a lot of basic and translational research that had defined what S Tx BP one did.
In, you know, in the, in the body. And so we were able to really leverage that and start to, you know, build the strategy around how we would accelerate therapies. And so that’s how I got into the rare disease space. Not as a technologist, but as a a, a patient and a pa, a care a care.
Naji Gehchan: Thank you so much, uh, for sharing this, uh, this story.
So from, from that moment to now working, uh, as a CEO at Global Genes, can you tell us a little bit more about your work and where this stands, uh, currently?
Charlene Son Rigby: Yeah. Yeah. I. Got very, very passionate about this idea around how we can accelerate work across rare diseases when we were working on my daughter’s disorder.
So we started. With very little, frankly, in terms of, in terms of the pieces that were needed to, you know, start to develop therapies and accelerate therapies. And so we, um, we started to develop things like data assets, and I was realizing that those are things that. You really could create a much more leverageable infrastructure for, to work across rare diseases.
And, you know, since my background is in data analytics and in the, you know, basically generating insights out of data, it was very natural for me to, to focus on that part of the problem. And so I ended up leaving industry and moving over to a nonprofit called Rare X that was building a cross disorder.
Pro research program to collect data across rare diseases and do it in a way that enabled patients to really be the drivers of that research. So we partner, um, very closely with patient advocacy organizations to do that in, in that data collection. And then a year and a half after I joined that organization, we merged it, as you said in the introduction, we merged.
Rare X with a larger organization called Global Genes. Global Genes has been in the nonprofit space for over 16 years, focused on enabling and empowering rare disease patients and advocates. And so with bringing together those two organizations, we now have, uh, services and offerings around support, education, as well as research.
Naji Gehchan: This is really crucial, especially in this space, obviously, where there’s less resources. So it’s really meaningful for all the patients. I’m also, I also work within the rare disease space. I’d love to get your thoughts about really the biggest challenges for rare diseases currently, as you think from a research standpoint and discovering new medicine like there is this.
Uh, really big technologies that we’re seeing with, uh, genes, genes editing, gene therapy, cell therapy, et cetera, that can help. Um, so there is the hope and there are the challenges being faced with those rare diseases. So I’d love to hear your thoughts as you’ve been heavily involved and, and advocating for patients.
Charlene Son Rigby: Yeah. As you said, this is a really exciting time. Yeah. Uh, as, as hard as the path in rare disease is, it’s also a really promising time. All of these genetic therapies, these therapies that have the potential to be disease modifying, you know, precision therapies, you know, um, even these, these approaches that are much more.
Scalable around repurposed drugs, like identify, identifying, promising, repurposed drugs that, you know, has the, the potential to really change the rare disease landscape. The, the challenge, you know, one, a major challenge that I see is that for a lot of rare diseases, the drive. To develop therapies for that specific rare disease really comes from the patients and there are very few patients, and so we have this kind of, if you will, financial gap where.
There are a number of companies that are making medicines for rare disease and have committed, you know, that they, that they have an emphasis on rare disease or an emphasis for part of their portfolio on rare disease, you know? But right now, because of the. Cost to develop those, uh, medicines, to get them all the way through a, an approval process out onto, you know, um, out onto the market.
There’s a real challenge in terms of making that. Uh, economic argument, especially early in the process where that disorder, you know, might not have a lot of kind of the fundamental research that that needs to happen in order to, um, if you will call it de-risked. So what we see, and frankly, part of the reason why we merged Global Genes and Rare X is because we see this.
I, I’ll say, frankly, really exciting phenomenon of what we’re calling the next generation advocate, and it’s patients who are taking it upon themselves to kickstart research, you know, in their disease. And the, you know, the, I’ll say that, you know, we have done this in my daughter’s disorder in terms of doing this kick-starting, you know, but I’ll also say that.
You know, we, in our founding board, we had a couple of people, myself and another person who had, you know, some, some biology background. You know, when, when I was, of course, when I was studying genetics in, in, um, 19 Forgotten, as my father says, we were still talking about Mendel and Peas. You know, it was very, very different from today.
But you know, a lot of patients are, you know, have, don’t have a biology background. They might not have a business background. They’re coming from whatever background they came from, and yet they have such urgency. Around needing to have, you know, something that is going to truly be impactful for, you know, them, for their, you know, family member for their community.
And it’s that passion and activation that is really kickstarting, you know, therapeutic development in so many of these rare diseases. So. It is a huge challenge because there is a, um, you know, a knowledge gap that you know is that, that advocates are working as hard as possible to try to address, and also to build that ecosystem of partners in terms of, you know, folks who do understand those processes or who have brought drugs to market.
Um, you know, and, and need to be part of that ecosystem to make that, you know, ultimately successful.
Naji Gehchan: I love how you framed it. Next generation advocates, you said. Mm-hmm. So can, can you tell us a little bit more, or if you have an example where, um, where, where you had this impact? And ultimately the, the research gets started, as you said, and the spark of research gets started.
Charlene Son Rigby: Yeah. I’m gonna use a very old example and then I can talk about a newer one because one of the, I, I read breath from Salt a, a year or so ago, and I was just so struck because. It was hard to believe that the Cystic Fibrosis Foundation started, you know, 90 years before they had an approved therapy. And, you know, the, the commitment of that community and those families and, you know, the amount of money that they raised, the, the researchers that they got involved, you know, the.
The, the, I mean, literal creation of an industry around, around cystic fibrosis was just truly impressive. And so I think that that’s a success story, but it’s also a 90 year success story. And so if we fast forward to where we are today with, you know, all of these new therapeutic approaches and are. Much clearer understanding of the genetic underpinnings of many of these diseases because, you know, 80% of rare diseases do have a genetic cause.
So we, we now have the ability to kind of shrink this problem. Right. And. Um, I’ll just give a an another example in the neurodevelopmental disorder space, um, which is the type of disorder that my daughter has. If you look at, um, if you look at Angelman syndrome, so you know that’s, that’s a, a disease that, you know, where advocates have really come in and.
Really driven, um, the development of therapeutic pipelines and even have, you know, started, um, you know, started. Biotech companies to, you know, drive forward the, the, the development of therapies. And, you know, one of those therapies is, you know, currently in clinical trials, you know, for, for an A SO, uh, for an antisense oligonucleotide therapy.
And what I. You know, think about today is, you know, Angelman also has been, you know, the first case reports, I think were in the mid 1960s. And, um, so what I see that is happening now is this timeline is being shrunk. Like we have diseases where the first patient reports were, you know, five years ago and already there are therapies that are, you know, being developed.
You know, there, there are oftentimes in. Academic settings, you know, and now you know, this, the n of one or N of few is, uh, a possibility for is, is a possible, uh, um, kind of modality for or strategy for some of these diseases. But it really is a, a, a changing time.
Naji Gehchan: So as you, as you look forward for the next years, and you talked about how time is getting, uh, luckily shorter.
Mm-hmm. Um, and. You know, the involvement of patients, as you said, they, they, uh, I interviewed a prior, um, patient also with a rare disease who’s a scientist actually, and built his own biotech company exactly as you shared to, um, to figure out a solution, uh, to his disease. Um, and. He advanced through IND and, and so it’s, it’s really, uh, those great stories.
So look, looking forward with all the technologies also being developed, um, in, um, within the genetic world, what are you most excited about?
Charlene Son Rigby: There are so many things. I think that the, the, the, this is probably gonna be a, a, an answer that right now isn’t. In favor from a market standpoint. But I am really excited about platform approaches because the, the issue around economics right now is that we, we, we do, we still have pretty bespoke processes, you know, to get a, a, a therapy from, you know, in discovery all the way through the regulatory process.
And so. Um, I, I think that in order to really unlock the potential around the ultra rare, the very rare and the ultra rare. And the vanishingly rare diseases, we need to have platform approaches that, you know, we can, we can apply. And, and so there’s technology in terms of, you know, the, you know, those approaches.
But then there’s also a piece of it that is regulatory. And I do think that we’re st there’s a recognition and that needs to happen. And you know, also some, you know, efforts including like the BGTC. That is a joint effort, uh, a, a public-private partnership that includes the NIH and the FDA to really build some of those, you know, critical pieces around the regulatory.
Naji Gehchan: So I would love now to give you, um, a word and get your reaction.
Charlene Son Rigby: Okay.
Naji Gehchan: Whatever. First come to mind. So the first one is leadership.
Charlene Son Rigby: I am hesitating because we are, we are actually, I’ll, I’ll give you an answer, but I wanted to insert that. Global Genes has started a leadership, uh, uh, virtual series this year called the Oh, I love
Naji Gehchan: it.
Charlene Son Rigby: Change. Yeah. And we just had our second, our second installation yesterday and. So, and, and the one of the speakers showed a word cloud around, around, you know, feelings around leadership.
And so
the word that I’m going to use is not one that was on the word cloud. Um, uh, I, I’m, I’m gonna say standing tall, not one word, but two words.
Naji Gehchan: I wanna hear more about this and the cloud.
Charlene Son Rigby: So, standing tall, the reason that I, I thought about that is that one of the things that I think is important about leadership is to really know, know what you’re grounded in, and be able to stand tall, take a stance. On what you think is important, the that, that is, I think a core aspect of leadership.
Naji Gehchan: So the second word is rare diseases. Hope.
The third one is re foundation.
Charlene Son Rigby: Uh, impressive and amazing. Are I, I can’t pick between the two.
Naji Gehchan: The last one is spread love and organizations
Charlene Son Rigby: inspire, inspiring.
Naji Gehchan: Any final word of whi uh, wisdom Charlene for leaders around the world.
Charlene Son Rigby: I know that right now times are, there’s a lot of change happening and in the environment, but I think that really focusing on what matters and standing tall in that is really important in these times.
Naji Gehchan: This is such an important charge for all of us, uh, as we move forward in healthcare leaders, whether we’re in drug development, biotech, pharma, nonprofit, patient advocacy. Um, you’re, it’s, it’s really an important point you’re making and I thank you so much for being with me today. And. For the impactful work you’re doing for several patients, uh, around the world.
Um, and I’m as hopeful as you that we, uh, we will advance therapies to, uh, help the help patients like your daughter and, uh, cure those diseases at some point. Thanks again for being with me today, Geraldine.
Charlene Son Rigby: Thank you so much.
Naji Gehchan: Thanks for listening to the show. More episodes in partnership with Termeer Institue can be found on spreadloveio.com.
Naji Gehchan: Thanks for listening to the show! For more episodes, make sure to subscribe to Spreadloveio.com or wherever you listen to your podcasts. Let’s inspire change together and make a positive impact in healthcare, one story at a time.
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