How v-ATPase Alliance is Turning Data into Hope for One of the World’s Rarest Genetic Conditions
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Show Notes:
In this Mission Matters Milken Conference Series episode, Adam Torres interviews Ana Rita Moreira, Executive Director of v-ATPase Alliance. Ana Rita shares how a rare diagnosis for her son led her to found a nonprofit that collects critical data to drive research for ultra-rare genetic conditions. Through grassroots collaboration and strategic advocacy, her organization is filling the scientific gap where few others will.
About v-ATPase Alliance
v-ATPase Alliance aim to empower and unite families affected by v-ATPase genetic disorders, advance scientific research, and raise awareness to improve the lives of children impacted by this disease.
Full Unedited Transcript
Hey, I’d like to welcome you to another episode of Mission Matters. My name is Adam Torres, and if you’d like to apply to be a guest in the show, just head on over to mission matters.com and click on Be Our Guest to Apply. All right, so today is a very special episode. We have. Ana Rita Moreira on the line.
And this episode will be part of our Mission Matters Milken series where we’re bringing you to the best of participants of attendees of the Milken Global Conference 2025. And first thing, first, Anna, welcome to the show. Thank you. Thank you, Adam. Thank you for having me. All right, Anna, so we got a lot to talk about today.
So I definitely wanna get into the work that you’re doing and also explore the hidden world of rare diseases where, you know, parents are leading research and there’s some medical breakthroughs happening. So first thing first though, I’d like to maybe spend a, a moment or two on the Milken Conference.
So I understand you attended the Beverly Hills conference. Tell us about your experience. It was, it was great. It was once in, it was my first time there and once in a lifetime experience which I hope to repeat. it’s just an I see that conference as we are stepping into the future for a few days.
We are living in the future where I think everybody in that conference wants to be. And then everybody’s working on a way to bring that future to the present in a way that is accessible to everybody. And I do believe that it’s very rich and very beautiful what they’re doing with that conference.
Hmm, that’s amazing. so for me, I mean, I’ve been going now is this your first year? I just wanna make sure I clarified that. Yeah. Was my first time attending in person. I have been attending online. Wow. That’s awesome. I love it. And I, I love talking to first time attendees.
I, so I’ve been going now for, I think three years, going on four years. And I feel like when you go to the in-person conference, when you can make it out there there’s just so the people, like the people you meet, like the comp and then all of the different sessions, it’s just, it’s a lot.
It is a lot. It is a full, and you wanted to, see everybody and everything is happening and all the conferences are good at the same time, but all day. It’s not like, you know, you are unlucky. No, you are. You have the most, privilege of having the problem of choosing from excellent talks that are running at the same time.
Yeah, that’s exactly right. Well let’s let’s switch topic a little bit. So maybe start by telling us a little bit more about VATP ICE Alliance. Yeah, so Va TPAs Alliance was it’s a nonprofit. It’s a 5 0 1 C3 nonprofit register. It’s a, a parent led organization that was created when I become a, a little bit after I became a mom because I was I, like my first born was born with a ultra rare genetic mutation in the gene, a 60 zero c.
It is a disease with no name that has a count of 27 affected kids worldwide, and only three kids with the exact same mutation as my almost 4-year-old. And and as you can imagine, it’s not profitable to look into this kind of diseases. So, knowing that there was no information out there made us start the foundation.
So the foundation needs me my son’s dad and another family that also has an affected child. Wow. What a story. And so what drives this mission? Like, of course it’s your family, of course, it’s your son, but like, what drives this? Because this, does not sound like it’s an easy thing to handle.
So I can tell you what I think in the, beginning was the shock of getting the diagnose for this ultra rare genetic condition and going to Dr. Google, who is supposed to know everything and finding three pages of results. And those three pages had no guidance, no support group just.
Basically there was nothing out there. So we had this diagnosis that it was so hard to get because it’s very hard to get rare disease genetic diagnosis, right? There’s no panel for them yet. You have to do a, full sequence of the DNA and, and then just to do all of that, and still at the end, you don’t actually, you have an answer, but you don’t have an answer.
You don’t have information, you don’t have treatments, you don’t have a clear path forward. You don’t know what the future looks like. and so this, is born out of necessity. there’s a complete void of resources, a complete void of research and even hope. Mm-hmm. And at the same time, in my case, I see my son, right.
He’s my daily reminder that. I can’t wait for somebody to do something. Mm-hmm. So I start leveraging my personal skills and then my background in economics and the communication and I, watched a ton of YouTube tutorials from how to create a logo, how to build a website, and doing all of that and, then we all as parents have this instinct of protect and fight for our child’s future.
Right? So I just wanted to extend this. Further, and not just for my child, but for all affected childrens from mm-hmm. Children from the TPAs community. Yeah. Can you talk about like what it’s like to work with the families, like in, that community? I, we we’re really big at mission matters about, community.
And I think we always, I think we talk, talk about it often from the context of like business and business communities or local communities. But like I to think about individuals that are all have a similar, thing around a condition like that, that’s a community of its own. Yes. Yes it is. And it’s.
Where I think most of the data of the GPA exists is within our community because those are the experts of the disease. Those are the people that are living with the disease every single day at their homes, and they are seeing all the little things. That happen and they are watching the evolution of the disease and they are dealing and they know what to do with those patients.
Right? It’s not a 15 minute at the doctor that never heard about this condition that is going to help. It’s actually sharing information among ourselves and and one of the first research things projects that. We did with BTPs Alliance was to start gathering the data that it’s needed to start advancing research.
Because above all, we are a research a research foundation. Hmm. So it is very important that we, collected the, patient data in a systematic way. Mm-hmm. So that. We have the foundation for researchers and clinicians to understand the naturally history of the disease, to be able to identify which are the common symptoms, understand the correlations between genotypes and phenotypes, and, we need this. We need this high quality and well organized data to attract the interest of the researchers and the pharmaceutical companies who, and we also use this exact same data to help other families with more information about the disease and empowering the patients this way. Then we can empower their experiences and turn their experience into actionable scientific insights, which ended up being a crucial asset for this rare disease.
So basically you have the individuals collecting or being the data that if it’s collected in a very organized way, then you can keep. Fueling this loop of research creates knowledge, empowers families, generates new data, and new data goes back to research that generates knowledge. You understand the loop away we go.
So to have everybody participating and having everybody and connecting everybody, it’s what we, do in a daily basis. Yeah. So how does all of this data gathering help to fuel research? Like, how does that piece of it work?
So basically data is the lifeblood of research. This is how we are able to provide evidence of everything that’s going on, but also direction and validation for where we wanna go. So if we start to collect the data now and the past data, we are able to create, as some sort of naturally history study or understand how the disease evolves.
Mm-hmm. How it goes towards the time, right? Which big changes do we see and do we observe and do we measure that is based on the patient information that we got from our community. So this basically creates the fundamental. Base to identify patterns, maybe trends and even deviations from what’s going on within our community.
Mm-hmm. And this is how then when you get to research, for instance, when you get into a clinical trial, for instance. Mm-hmm. you start. But let’s imagine we are still far away from this, but hopefully we’ll get there. In the, next few years. Yeah. But you’ll need some kind of biomarker or tracker or some kind of parameter that you can.
Measure once you start the clinical trial so that you know if the, the treatment that you are giving is or not is, is successful or not. Yeah. So for that, you need to have those measure indicators of some kind of biological state that is related to the disease. Well, Anna, this has been great having you on the show today and learning more about what you’re doing and about your, organization.
That being said, if somebody wants to follow up or they wanna learn more, how do they do that? I. So because we are so rare, if you just type VA TPAs alliance everywhere, you should be able to hit our website and social media. But I’ll just going to spell it. It’s V-A-T-P-A-S-E Alliance, and then our websites.org and our social media are all without the.org.
So it’s just the DPAs Alliance. So please follow us and get involved in our mission to help save our children. Perfect. And for everybody listening, just so you know, we’ll definitely put the links in the show notes, so you can just click on the links and head right on over. And speaking of the audience, if this is your first time with Mission Matters and you haven’t done it yet, hit that subscribe or follow button.
This is a daily show. Each and every day we’re bringing you new content, new ideas, and hopefully new inspiration to help you along the way in your journey as well. So again, hit that subscribe or follow button. And Anna, thanks again for coming on the show. Thank you once again for having me.
