Turning Hope Into Action: Fighting USP7-Related Diseases

Bo Bigelow:
I think since Amber came aboard, I would say for a really long time, my wife and I had this very sad conversation all the time, which was it's pretty likely that all this work we're doing for this foundation is not for Tess, that it's going to be for another generation of people that come later and it's going to be too late to really do anything to help Tess. And what happened when Amber came board and when we started working with David and all of this happened in the last few years, that has all changed. We don't say that anymore. We really say, you know what? This could really maybe be in time for Tess, and I don't know if we're going to get there and if we're going to find that out and if we are going to be in time for Tess. But at the very least, we've managed to create this group and make all these connections. I really, for me, that is what rare disease advocacy work and rare disease foundations, what this is all about is just connecting people.

Mary Parker:
Welcome to another episode of Eureka's Sounds of Science. I'm your host, Mary Parker, and today we're diving into a story of resilience, innovation, and the power of community in rare disease research. So much has happened since we last spoke with today's guests, beginning with a major milestone identifying a therapeutic target. It's a testament to the momentum and dedication driving this field forward. I'm thrilled to welcome back Bo Bigelow, co-founder of the foundation for USP7-related diseases who last joined us in October, 2023 to share the deeply personal story of his daughter Tess, and her diagnosis with Hao Fountain syndrome. Joining Bo today is Amber Freed the newly appointed Executive Director of the foundation. Amber brings her own remarkable journey as a rare disease parent and advocate, and together she and Bo are leading a bold new chapter in the fight against USP7- related diseases. We're also excited to be joined by David Fisher, Chief Technology Officer for Discovery at Charles River, whose work is helping to accelerate the science behind rare disease drug development through data-driven innovation and collaboration. Welcome, Bo, Amber, and David.

David Fisher:
Thank you.

Mary:
It's good to have you all here. But before we dive in, Bo, can you tell us a little bit about what Tess has been up to since we last spoke?

Bo:
Sure. First of all, Mary, thanks for having me back on. I appreciate it. Tess is one of the most joyful people that I know. She loves people, she's really social, she doesn't use words, but she's really communicative and emotive. She loves the water. She's going to go swimming pretty much no matter what, and she loves the cold. We live in Maine, so there's nothing she likes more than having a blast of cold wind in her face. So I think we're living in the right state. I think so, yeah, so it's been a few years and yeah, just to bring you up to date, Tess just turned 16. She's a freshman in high school now. She plays on a basketball team and she's really excited about that. She has this, I dunno if you'd call this dedication or enthusiasm or what, but likes she likes to sleep with her basketball in her bed with her, so she's pretty pumped up about the season.

Mary:
Well, you co-founded the foundation for USP7-Related Diseases. Can you share how it all began and what drives its mission today?

Bo:
Yeah, so we went to a conference in Texas at Baylor College of Medicine in Houston, and that was the first time of really kind of getting everybody together. In those days, we really have very many patients at all. Tess was patient number eight and there was another family there who was patient number 10 or something like that. And so it was really the first time getting to know anybody else who had this experience with this disease and there was this electric energy about it because we all really wanted to start an organization. We'd had a number of years since we had found out about the gene and kind of been on our genetic journey, genetic Odyssey, diagnostic Odyssey I should say. And we'd had years of people saying, where do I donate? I want to help you guys somehow. And without an organization to donate to, it's sort of like you got to just tell everybody to hang back and wait a little bit.

And so at that conference, we were at a barbecue place and it was my wife and me and another couple, Becky and Tim Rots and our girls were hanging out together and we're literally eating ribs and we've got sticky fingers and trying to drink beers and using napkins and talk about this idea of let's start up a thing, let's do this. And at that conference we had been invited by Dr. Christian Schoff who was then and is still the world's expert on our disease. And so we went to him and just said, what would be the most important thing that we could do? What would help you the most? And he said, why don't you raise me some money? Let's get some funding together then that way we can do some real research here. That was a really big help for us to have him guide us that way.

We made a conscious choice at the time not to offer support so much. I think there were a lot of families who really needed that they need help and they need somebody to say, I understand and kind of hold hands with them, but really we made a conscious choice not to do that. We really just wanted to find some more patients and fund the research, which is what Christian said should be our priority. And now we have a Facebook group that actually ends up offering that sort of support and community. But really what's driving our mission right now are two things. First data, we're really interested in data, specifically natural history data. We understand that that's really important to get right and to start to collect as much as we can. And I think we have a big hurdle because people these days don't really want to hand over any kind of medical information.

They're just really concerned about privacy and they want to protect all that. And so you're kind of having to overcome that hesitant sort of reaction that everybody has and convince them to share and let them know, look, we're not going to give this to anybody with anybody's name or we're social security number or anything on. I mean, it's really all going to be de-identified and getting them to share is really difficult. But then also once you have that data, we're trying to assemble it in a way that makes it useful, makes it valuable. So that's the first thing we're focusing on is the data. And then the other thing is starting to test some compounds and see if they can improve the way USP seven actually operates. That's the gene that is involved with our disease with half fountain syndrome. So looking at USP seven and just trying out different things. Part of this is like a drug repurposing project, literally things that have been FDA approved and we're just throwing that at the gene and just see, does this change anything? Does this increase activity, decrease activity? And then also starting to look at some actual cellular models of specific mutations that we know of in our group.

Mary:
I like your story about the brainstorming session. I know that personally I think best with a big plate of barbecue in front of me, so it makes perfect sense to me.

Bo:
It makes things happen. It really does.

Mary:
It really does. Amber, what inspired you to join the Foundation as Executive Director and what's your vision for the next chapter?

Amber Freed:
Yeah, I would say that being a rare disease mother myself, I went all through life not knowing anything about rare disease. I was so happy as an equity research analyst for a hedge fund and just watching numbers and making decisions about money, not knowing about rare disease. And then when I reluctantly became part of this community, it's just something that you can unsee. It changes the very fiber of your being. And from that point forward, you just want to help people. For so long, I have admired what Bo has done. I have followed his podcast, followed him and his wife and Becky, and it's impossible not to fall in love with Tess. So very emotionally drawn, but also the foundation is the gene is interesting. There are so many different ways that I think could rescue this gene and low-hanging fruit, and I think it's very, very possible that we're going to see drugs that can improve these children's lives in our lifetime.

Mary:
Perfect segue. Thank you. David, what role does the USP7 gene play in the body and, how does a mutation in that gene lead to the symptoms seen in how fountain syndrome?

David:
So that's a good question because there is an easy answer and then there is a very complicated answer. The easy answer is that we understand the molecular function of USB seven. So this is a protein that regulates the half-life of other proteins by snipping off a ubiquitin. So it's a ubiquitin-specific protease. That's what USP7stands for. And the ubiquitin is attack to basically tell the cellular machinery to get rid of the protein that carries that attack. But if you want to keep the protein and you snip it off again, and this is what USB7 does. So from a molecular perspective, we understand that in USP7 patients is a loss of function of USP7of one allele either by mutation or deletion. So there is too little USP7 . So we assume that the half-life of a number of proteins is thereby changed in the cell. The difficult part of the question or the answer to the question is that we don't know which of those proteins are really responsible for the symptoms that USP7patients carry the neurodevelopmental symptoms because there could be many proteins that are regulated by USP7. So that's the challenge that we have to understand which biochemical pathways are affected in the brain by the loss of USP7 function or expression, and how can we change that?

Mary:
That sounds like a pretty common refrain with most diseases that we don't understand perfectly. You're reminding me of Alzheimer's, for example, and how we know that there's this buildup of the protein in the brain, but we don't necessarily know why that leads to any of the symptoms that are associated with that disease. So that seems to be kind of a common thing with these diseases. Would you agree?

David:
Especially because of the brain. The brain is the most complex organ in the body. Perhaps the immune system is also very complex. Certainly the brain has such intrinsic complexity, just the different cell types in the brain, the way they interact from these networks. So yeah, that makes studying these neurodevelopmental diseases very challenging.

Mary:
So Amber, can you tell us how this condition typically affects or presents in patients and what makes it unique amongst other neurodevelopmental disorders?

Amber:
Sure. Well, first I'll start with what makes it unique and it is a very complex protein, but one thing that USP7 has going for it, which is a weird thing to say in rare disease, especially when you call other rare diseases, lucky is that it's very interrelated to some types of cancer. And there's a lot of existing literature, there's so many neurodevelopmental diseases out there where there's only four patients, a couple published papers, and you're like, man, what do I even do with this? But there is a good starting place. What I would say about USP7, and this is very typical of a lot of neurodevelopmental disorders, is that there's a very wide phenotypic range. So it would probably make sense for Beau to talk about how TESS is affected and the child at the conference that didn't want his picture taken.

Bo:
Yeah

Mary:
Sure. Bo, can you tell us about Tess's symptoms?

Bo:
Sure. She's one of the most heavily affected in the cohort that we know of. I think what was difficult before we got our diagnosis is that there are just so many systems that are involved. She had cortical visual impairment and still has that. It's improved somewhat, but there's a vision piece of it. And she's got speech issues. She has trouble with receptive language, but also expressive language. And she had hip dysplasia and a lot of problems learning to walk even after learning to walk. And even now, her gait is very kind of unsteady. She has epilepsy. She was kind of late in the game experiencing seizures. We kind of thought for a while actually that she had escaped that symptom of the disease, but that's one that we see pretty often as seizures and trying to get those under control. So it's really a lot of different systems in her that are affected.

Everything from GI to vision to her skin. I mean, there's just so many different pieces to it. And then you have this time that I like to talk about at a conference where there were, I don't know, something like 50 or 60 people, not all patients, but just patients and patient families. And we're all getting together for one of those big kind of group photos as the conference is coming to an end. And there's a kid who's probably like 16, 17 years old. It's his first conference and he showed up and has really enjoyed being there, but he lets me know, he pulls me aside and says, listen, I'd really rather not be in this photo if it's okay with you. And I said, yeah, nobody's going to force you to be in it, but I am curious. Why don't you want to have your picture taken with the group?

And he said, well, it's because at school no one has any idea that I have this disease, that I have Hao Fountain Syndrome and I don't want anyone to know. And so if I'm in the picture, then my friends will know that I have it. And so I want to keep it to myself. And so the mere fact that he can walk and talk and go to high school and essentially pass for somebody without this disease just shows that there's this massive, massive difference in phenotype where from the first second you're with Tess, you recognize, wow, you are struggling with eating, walking, talking, all the basic activities of daily life, and then here's a kid who wants to keep it a secret. So it's a really wide range.

Mary:
That's amazing. Bo, Amber, do either of how many cases there are today and how many other diseases are linked to this gene?

Bo:
We have 293 as of today. We're really close to getting 300. We're hoping that'll happen soon. As far as USP7 variants don't lead to any other disease that I know of. It's just there's the connection to cancer that Amber talked about. Not so much from variants, but just an overexpression of the gene.

Mary:
Interesting. Well, can we start talking about collaboration and how did the three of you get connected? David, can you start?

David:
Yeah. So we got connected to Bo a couple of years ago through one of our former colleagues, Barbara, who was very good in just tapping into different parts of the rare disease community and identifying those that really have a story to tell and perhaps where Charles River can also contribute in trying to find a potential therapeutic. And we had a separate connection that preceded that, I believe with Amber because yeah, Amber is a rare disease mom, so she's also trying to work on a therapy for her boy. So we got connected through those two roots separately, and then this all brought it together with Amber joining the Hao Fountain Syndrome Society as an Executive Director.

Mary:
Bo and Amber, anything to add about how you got connected with David?

Bo:
Yeah, I remember that that was so fortuitous that Barbara Killian at the time, who's a great connector of people and was really open to the idea of just helping our foundation in any way that she could. She just started to say, well, what if Charles River were to play a part in this? There's someone you should talk to. And that was a really special connection and I was really grateful that that happened. And then it was just funny to me that Amber's like, do you know this guy David Fisher? I was like, funny. You should ask. So yeah, these connections, I think that's what makes everything happen. In rare disease land, you are trying to build a thing, it doesn't exist, and you're just kind of trying to piece it together. And any connection that you can get with somebody who knows what's going on is really useful and really helpful and just changes everything for you. So we're really grateful that this happened to have David dot aboard with us. I'm really excited.

Mary:
Well, your foundation has obviously worked with a lot of experts sharing data and insights. So how have these collaborations helped accelerate your understanding of USP7-related diseases? Amber, do you want to start?

Amber:
What USP7 has done so well is find people like David. There are people in this space that sure they have a job, but this isn't a job. It's a passion. He definitely thinks about this while he's brushing his teeth, he volunteers his personal time. I live in Texas, lots of barbecue here. His heart is bigger than Texas. And we've found those people that are doing this because they just want to make a difference. They make the phone calls work, they give time, they don't have, they're constantly, constantly thinking of what are we missing? How can we look at this from a different angle? And the big thing we've done in the past year is getting all of those people together regularly, and when you bring together magic people, there's magic and miracles happen.

Bo:
Yeah, I couldn't agree more. I think Amber establishing this monthly scientific round table very purposely, I think it's at like nine or 10:00 AM on the East coast, and so that way people in Europe can join and just making it regular. And so what I've been excited to see is both at that round table and then again at conferences in person, it's just been really exciting for me to see these spontaneous connections happening. It's not really us so much pushing an agenda. It's literally like Amber was just saying, somebody says, a scientist says what we really need here is X. Then somebody else says, well, I know how to do X, I can do that in my sleep. We should talk. And then those people have a thing that is separate from us and they're going to have a project that helps us and then they come back and tell us. So rather than us kind of leading things, it's more about a life of its own. And that's mind blowing to watch in action. It's really exciting.

Mary:
That's excellent. So David, the foundation recently launched a drug repurposing screen. Can you tell us about what it involves and what you hope it will uncover?

David:
Yeah, Bo already referred to this. So a drug repurposing screen is basically a way to just see if by any stroke of luck, there is already an approved drug out there. So, something that has been approved by the FDA or other regulators for obviously another indication because there is no drug for USP7related disorders. And the way we decided to ruin this is really work with those individual researchers, the academic experts that Amber mentioned, that all bring their own piece of the pie, their focus on the role USP7 place in cancer on the differentiation of iPSC to neurons, et cetera. They've all identified these different biochemical pathways that are being regulated by USP7. And then what we try to do is capture as many of these as possible, these different pathways in one cellular system so that we can screen this library of approved drugs in an assay that looks at these different biochemical pathways, just hoping that one of them would for the loss of USP7. So this really hasn't been a team effort. So we developed this essay at Charles River, but of course with the input from the academic experts on which pathway to include, how to look at that. So we are excited that we are almost ready to start running the screen and then hopefully generate some interesting data.

Mary:
I assume you can use your vast background and experience to narrow it down a little bit before you even start the testing, the drug repurposing testing, you'll have some idea of what types of drugs and what classes of drugs might work.

David:
Well, that's actually typically what we do. Sometimes it's easier to just throw everything at a kitchen sink at it, because sometimes you uncover interesting biology and it may be that there's a drug that you really wouldn't want to give to children, but it hits a particular target that validates another drug that actually could potentially be safe, works through a similar mechanism, but has a better safety profile. So sometimes you just want to do, you just get all the data that you can generate because sometimes it supports each other.

Mary:
Interesting. So switching gears a little bit, Bo and Amber, back in 2021, the Foundation awarded a research grant Neurolentech.

Bo:
Yeah.

Mary:
How has the research landscape evolved since then?

Bo:
Well, we know a whole lot more about the disease now than we did then. I mean back then we had I think somewhere around 120 patients and that population is more than doubled. We found almost 300 now in the world that we know of so far. And we've really done a lot of work to figure out our phenotype, to really figure out to differentiate this disease from other ones that look like it and that are related to it. So the pathway that Hao Fountain Syndrome is involved with how Fountain Syndrome is involved with two other diseases as well called Prader-Willi syndrome and Schaaf-Yang syndrome. And the three of them really share a lot of features and look very similar, but we really needed to kind of stand apart from those diseases and show what makes ours unique. And so we've done a lot of work to do that.

We worked with Christian Schaaf and somebody that was working with him to get some phenotype data. And then I would say one of the bigger developments since then has been combined brain. So we were members technically then it started in 2020, but since then it has really taken off. And what this is is a collection of organizations like ours. The idea was that if I'm a rare disease organization and I'm trying to do a drug discovery project, but Amber's already done one with her organization, why should I have to start from scratch? She just let me copy her homework in the bus on the way to school. And so that's what we do. It's like literally encouraging copying because why make somebody do it again? Everybody's racing against time. And so sharing all those resources, everything from getting grants to doing drug projects to storing samples at a bio repository, that's a big development that's taken place since then is being able to have our population donate samples, donating blood and donating at conferences, and then also basically remotely from where they live. And so being part of Combined Brain, I would say, has supercharged our efforts. Would you agree, Amber? What do you think?

Amber:
Oh, absolutely. I would agree. And it's a continuous cycle. In all of rare disease, we face the same challenge that there's a predicted prevalence, but the incidents like where are the patients? We're constantly trying to find patients. We know that they're out there. And so it's been a flywheel of growing the organization, creating awareness. And last year USP7 received an ICD 10 code in the US so now we're recognized as an official disease and doctors will start adding that on charts and it will help us find additional patients. And those additional patients will help us build a more robust bio repository. And the knowledge bank just keeps growing. I've read so much about AI recently and how AI is as smart as the information being uploaded and the questions that are being asked, and I just keep thinking that we're building that AI machine as we go.

Mary:
That's awesome. It's funny to think about this sort of collaborative spirit where you're all working towards a similar goal. Amber, do you find that to be different from maybe your focus before? I imagine working at a hedge fund, the idea is to be competitive and get ahead and have the edge on your competition. Whereas here in the rare disease realm, everybody's kind of working for the same purpose and sharing is just part of the game.

Amber:
I love a good competition, and it actually really struck me about the rare disease community. I thought that we would perhaps be fundraising against one another, and that's not the case at all. We are truly each other's biggest cheerleaders, and we share the same grief when something bad happens. We're just each other's homies, plain and simple. But secondly, when it comes to research, truly a rising tide lifts all ships and contractually working with universities is hard. We don't want to run up big legal bills if one of us has done it. We want to share, we want to improve our processes as a group because it truly does help everybody. I was one of the founding members of Combined Brain because I realized early on how important the collaboration aspect is, and the more common people we have working towards these goals, the easier it is to leverage our time that you don't need full-time people. You can get by with fractional employees because they're working across so many different diseases. And that's a good thing.

Mary:
Definitely. I mean, I guess when you think about it, the competition that you're up against is the diseases and just time. So working together collaboratively, you're all in competition against those. So David, assay development is such a critical step in understanding disease biology and testing potential therapies. So can you share where you are in the process of developing disease-relevant assays for USP7?

David:
Yeah, so what we did was we wanted to have a very good model, a robust model because we have to screen thousands of small molecule candidates. So you want to have something that is very stable, gives you an accurate measurement. You can use statistics and also a comparator. So you want to have a cell model and the cell model that has normal SB seven level so that you can see what the consequences are of the loss. OFB seven. So we used what we call an isogenic cell model. So we have the control cell and then a cell with a mutation in USP7. And we first validated the indeed that we see this change in USP7-levels. And then we just went through a long list of candidate pathways that based on both published and unpublished literature, were suspected to be downstream of USP7 and looked at proteins assuming that the half-life, the protein, and therefore the expression levels of the protein would be changed to identify just the ones that are most robust, where we see a significant change in these protein levels in this pair of cell lines, so USP7-deficient and the control cell line.

And then of course build an assay that is high-throughput so that you can screen thousands of compounds, get quantitative data. So we've just completed the acid development, so we're ready to start screening.

Mary:
Excellent. And I know we've talked a lot about antisense oligonucleotides over the years or ASOs. Is A SO’s a potential therapy for USP7-related diseases?

David:
I think it is. It may not be a potential therapy for every mutation because we'd have to use some of the more recently identified uses of antisense oligonucleotides. So they're the first antisense oligonucleotide drugs really utilized two different mechanisms that ASOs would've to knock down a gene. And that's clearly not what we want to do here because there is already a loss of function.

The other way is to change the splicing, introns out of the pre mRNA. This is the mechanism that Nusinersen or Spinraza uses for spinal muscular atrophy. And that's also not an immediate mechanism that you'd want to use in USB seven. But there is another mechanism, and that is to find a way to upregulate a gene by an antisense ide. And this is a little bit more recently being explored by biotech and not-for-profits and families. There are a couple of things you can try, but it is a little bit of a trial and error at the moment. There's not an obvious way to just pick one sequence and show that you can regulate the gene. So you first need to identify if there are regulatory mechanisms that normally suppress the gene that you can target with an ASO or there's an inefficient splicing that you can address. But you also have to keep in mind dependent on the particular mutation that an individual caries that sometimes those ASOs may not work because there may be a mutation that interferes with that mechanism.

Mary:
So looking ahead, what does the future hold for rare disease drug discovery and development, especially for conditions like how fountain syndrome, David?

David:
So I think we are of course excited that we are going to start the drug repurposing screen with any drug repurposing screen. You don't know what the outcome is.

Hopefully we'll have a number of hits. Some of those hits may not be immediately addressable because for instance, they are there never been tried for a long-term indication or have never been tried in a pediatric setting. So there is no guarantee that this is going to be successful. But of course we always have hope. But besides of that, of course, hopefully this drug is going to give us more data and insight into the role USP7 plays and these different pathways and how perhaps there are compensatory mechanisms that can be explored through other drugs that we have just not tested or designed.

Mary:
So Bo and Amber, what's next for tests and the foundation and all of the initiatives that you are both leading?

Bo:
Well next for Tess, she's got another season of hooping it up. Her basketball season starts soon and then she's going to be doing some traveling. We've gotten to take her to some fun places that don't involve too long of a flight. And so we're going to be taking her on some trips. As for our foundation, I really think we're at the point now where we are trying to collect more data, as I mentioned earlier. And I think on the flip side of that, there's also a lot of families who are struggling to get information where they are. They want to find out about more, say how the endocrine system is affected in HAo Fountain patients, but they just don't have an option where they live to see an endocrinologist. So what Amber and I have been talking about is the idea of people coming to our conference hopefully next fall in Philadelphia and doing sort of a one-stop shop with some clinicians and be able to just bang, bang, bang, see a neurologist, see an endocrinologist, and make sure that these are people who are actually experts in our disease.

And I just want to say that because it's so rare, if you've seen two patients, guess what you're an expert in Hao Fountain Syndrome. And literally my endocrinologist here in Maine, she actually also saw a patient from New Hampshire. So I'm telling her, I'm like, look, you are one of the world's experts in endocrinology as this disease affects it. And so just being able to establish that I think would be really, really amazing because one, it would help people get answers all in one afternoon, but also give us a lot of the phenotype data that we're looking for and also collect some bios samples and really check a bunch of boxes all at the same time.

Mary:
What about you, Amber? What are some of your goals for the foundation?

Amber:
Well, I would echo the same sentiment that with 120 patients, not many doctors, you're straight up just comparing if people live in the same state. Now we're at a point where we have interesting science, so much interesting science and a great group that's just running on its own. And now we're able to get more clinical interests. There are doctors that see two or three patients. There are med students that would like to learn about a new treatment and something we're really trying to do. If somebody out there is listening, we are looking for those clinical people that would have an interest in kind of owning us, like helping write that standard of care, taking an in-depth look at our patients, like having a little rare disease to own for themselves and grow with us, with our population.

Mary:
And what legacy do you hope to build for Tess and the foundation and the broader rare disease community?

Bo:
I think since Amber came aboard, I would say for a really long time, my wife and I had this very sad conversation all the time, which was it's pretty likely that all this work we're doing for this foundation is not for Tess, that it's going to be for another generation of people that come later and it's going to be too late to really do anything to help Tess. And what happened when Amber came board and when we started working with David and all of this happened in the last few years, that has all changed. We don't say that anymore. We really say, you know what? This could really maybe be in time for Tess, and I don't know if we're going to get there and if we're going to find that out and if we are going to be in time for Tess. But at the very least, we've managed to create this group and make all these connections. I really, for me, that is what rare disease advocacy work and rare disease foundations, what this is all about is just connecting people.

Mary:
Finally, how can our listeners support your mission and help bring hope to families who are affected by USP7 related diseases?

Bo:
Well, they can listen to my podcast. It's called Stronger Every Day. You can find it wherever you find podcasts, but also just kind of following what we're doing, I think our secretary of our foundation is Becky Rots. She's the one who was there at that barbecue sesh where we launched the foundation. And so she runs all of our social and all of our communications. And so really keeping track of what we're doing. She's paying attention to that stuff every day. She works for hours and hours and has all these great stories about different people, different people who are patients, different families who are dealing with this. And she loves to tell those stories and highlight those journeys that people are on. And so being part of that and reading those stories and just following on us on Instagram or whatever, I mean, it's a really good follow. I'm not just saying that because it's our foundation. It is full of good content and it's literally every day. What do you think, Amber?

Amber:
Yes, definitely on Bo's podcast, and I would especially highlight that. I'm sure this podcast draws in a lot of parents trying to understand. And man, one thing I just love about Bo is that he draws everything together, like his personal viewpoint. The scientific doctors, you feel much less alone. If anything of what we are saying, resonates with you, please reach out. So we're constantly up against the inherent problem that we don't know what we don't know. And if you are interested in walking this journey with us and learning and building something bigger than yourself, our information is real easy to find.

Mary:
I thank all three of you for joining us on this podcast. Thank you, Amber, Bo and David.

David:
Thank you.

Mary:
Bo Bigelow is chairman and Amber Freed is executive director of the foundation for USP7-related diseases. David Fisher is Chief Technology Officer of Discovery at Charles River. Stay tuned for the next episode of Sounds of Science. Until then, you can subscribe to Sounds of Science on Apple Podcasts, Spotify, Stitcher, or wherever you get your podcasts. Thanks for listening.