Heidi Bjornson-Pennell Transcript — Nov. 21, 2025
Rachel Jones/NPF (00:00):
For the second session of day five, we’ll gain important insights about the need for stronger infrastructure and collaboration in the rare disease realm. We’re joined by Heidi Bjornson-Pennell, the director of patient networks and partnerships at the Chan Zuckerberg Initiative as the lead of CZs Rare. As One network. Heidi supports nearly 100 patient led organizations worldwide, working to accelerate rare disease research, foster collaboration, and drive the development of treatments and cures. You can read her full bio on our website at nationalpress.org. Heidi, thank you so much for joining us today and we’re looking forward to your presentation.
Heidi Bjornson-Pennell/Biohub (00:50):
Thank you so much, Rachel. It’s really an honor to be here to speak with all of you today and I’m good morning everybody. I’m going to share my screen. So I’m Heidi Bjornsen Pinnell. As Rachel said, I’m the director of patient networks and partnerships at the Chan Zuckerberg Initiative and I lead the work on the translation impact and engagement team at the Chan Zuckerberg Initiative, which as of this week has been rebranded as biohub. So we are actually the same entity with doing the same work. We have previously been Chan Zuckerberg Initiative, the foundation, and we had a number of biohub that were a part of our work, the San Francisco Imaging Institute to Biohub in New York and in Chicago. And we’ve all come together as one entity called biohub.
(01:44):
So our mission remains the same, which is to help cure and prevent all disease and it’s ambitious mission, which we believe we can really make progress towards. I dunno why I’m having a problem this morning, utilizing the technology that exists today to really drive forward progress. So using AI powered biology to study how cells operate, organize and work as part of systems and to understand why disease happens and how to correct it. And so through our work, we are engaged in numerous efforts including data creation, creating the biological data sets and research tools needed to drive forward research AI acceleration, building the world’s leading AI models to understand biological systems, scientific discovery, generating breakthroughs with cross-disciplinary research and innovation and supporting open collaboration. So the development of open source tools and research that bring together our cross sector partners to turn discoveries into medical breakthroughs. We have four grand challenges currently that are 10 year grand challenges that are driving our work. And these are to build the AI models to predict and understand cellular behavior, to develop novel imaging technologies to map, measure and model complex systems. This is the work that was taking place and still is taking place at the Imaging Institute, harnessing the immune system for the early detection and prevention of treatment of disease. This was our inflammation biohub and creating new tools for sensing and measuring inflammation within tissues in real time. And this was in our inflammation.
(03:34):
And so going back to 2018, when CZI first launched, we asked a question which was, how can we support and leverage the power of patients to accelerate research and drive progress against disease? And our work on the translation and impact and engagement team, which I’m a director on, it’s really working to bridge the gap between the basic discovery that I’ve just described that we’re conducting at CZI in our AI powered work, our efforts to and c Z’s overall mission to help cure, prevent all disease. And so our question is how can we bridge that gap to understand both cells and understand disease? And we believe that patients are really sorry that patients are really key to this, that they bring together researchers tool and biomedical developers to really better conduct better faster research progress and to ensure that patient experiences really inform the research that is taking place. And so patients are bringing their insights to the table and supporting the development of critical research enabling infrastructure that is really driving forward research in these diseases.
(04:56):
So why rare disease? As I’m sure you’ve all been discussing over the past few days, the burden of rare disease is immense. There’s over 400 million people that suffer around the world from a rare disease. One in two of these patients diagnosed with a rare disease as a child, 30% of them will not live to see their fifth birthday. 95% of rare diseases lack an FDA approved treatment. And while this is framed in the US context, this is essentially true around the world. There is an average of six plus years for rare disease patients to receive an accurate diagnosis. And as I’ll discuss in a little bit, actually the vast majority of rare disease patients are not ever diagnosed or not currently diagnosed or many never diagnosed. And this diagnostic odyssey is even worse for those from underrepresented backgrounds and in many regions of the world. And in US terms up to half a million dollars, it’s estimated to be the economic impact of a delayed diagnosis and what could be avoidable patient costs.
(06:05):
And so it’s a tremendous unmet need that not only do we see as something that clearly needs to be addressed, but also that provides incredible biological opportunities for understanding science. And at the same time, we also saw that there were patient communities around the world that were really driving forward progress in rare disease. And so wanting to really lift up those efforts. In 2019, we launched the RES one project and this is an image from that initial launch where we aim to bring together patient communities and their quest for cures and really provide capacity building support to uplift their efforts. And so working to bolster the capacity of these patient led rare disease organizations to accelerate science, we’ve developed an incubator style approach to supporting patient organizations at the time that the organizations have joined the network. And we’ve had three cycles of funding. The organizations have on average been six years old.
(07:16):
Some of them were as new as 1-year-old, some of them as old as 30 years old, but on average six years old with $376,000 operating budget. Some of them had operating budgets as low as 14,002 or fewer staff. The vast majority of organizations, however, had completely unpaid staff and were volunteer led. And so as you probably also all know, the vast majority of people that are called to this work did not ever expect to be doing this work. Their teachers, lawyers stay at home moms, engineers, all of these things that do not really prepare you for the comprehensive work that needs to be done to really lead these types of organizations and address the science that needs to be tackled, make progress in these disease areas. And so to try to support these leaders in this early work, we developed this incubator style approach where the organizations can really benefit from one another and learn from one another.
(08:25):
So sharing resources, sharing names of providers that they’re partnering with, sharing information about their diseases with one another and identifying synergies across ’em. And then providing them with a number of resources and tools and trainings to support their organizational capacity. So fundraising trainings, governance trainings, long-term planning trainings, scientific advising or science trainings and scientific advising. So learning how to undertake all the different research challenges that they would be facing. We have a portal where the organizations can discuss and ask questions of one another, a synergies tool where they can identify scientific synergies between their disease areas and identify ways that they might collaborate. A mentorship program provided in partnership with the Milken Institute’s Faster Cures training program that really works where leaders for more advanced patient organizations are working to support these earlier stage organizations, pro bono legal support that we have developed a partnership with We the Action, which is a project of civic nation, and then we bring them together in regular convenings.
(09:44):
So in-person convenings, which happen at least once a year and then regular calls, they’re on calls together several times a month. And so this comprehensive capacity building support has proven to be incredibly impactful on top of the funding which we’ve provided, which has really been to support them to develop their internal capacity and to hire key staff, so executive directors, research coordinators, fundraising directors, these types of key positions. And so just to give you a few examples, we’ve really seen incredible impact. As I said, KIF one a.org is one of the organizations in our network. When the KIF A joined the RES one network at the time, the reorganization had recently been founded in 2011, the gene was identified in 2016, they convened the first research group in their disease area and there were 10 known patients in the world with no research assets. In 2019, KIF one a.org applied for and was awarded where one funding.
(10:59):
And through that funding, they hosted the first inaugural family and scientific engagement conference. That was one of the key grant objectives with our funding, was to build the research network to identify those that they could bring into the disease area to host a convening and really to start to spur interest in the disease with the ultimate aim of then identifying shared patient researcher priorities that would drive the research forward from that point on. And so KIF one A did this in 2019, and now in 2025, just six years later, there’s 550 known patients of what had been believed to be an ultra rare disease. It’s obviously still a very rare disease, but a huge leap from 10 to 550 known patients around the world, 165 research network members coming from 40 countries, significant research assets that the organization has developed. A patient registry, a detailed natural history study, IPSC lines animal models to support ongoing research.
(12:09):
They’ve raised over $4 million and have a multi-pronged therapeutic strategy. And two children have been treated with an A SO, an antisense ugly nucleotide. And so it’s really incredible progress and we’ve seen this repeated over and over across the organizations in our network. Just to give you another example, QHHT was founded in 2001. This is a much more common disease than KF one A. At that time, they had a community of 200 patients, a $28,000 budget and three centers of excellence in the US that were focused on HHT, but if not living near those, that was obviously a huge challenge for diagnosis and treatment. And so in 2019, again, QHHT was awarded whereas one funding and launched the research network that I described a moment ago in 2020 and conducted a survey of the patients in the disease area, the clinicians and researchers to again form this patient researcher prioritized research agenda, launched a public research roadmap to try to drive all players towards these key goals and launched a therapeutic development arm of their organization with the CZI funding.
(13:33):
And now in 2024, we see a community of 40,000 HHT patients at $10 million budget, 58 centers of excellence of biorepository and 10 companies with active drug development programs in HHT. So just tremendously exciting progress. And I really love this quote from Marianne c Clancy, the executive director of HHT. She says, we were always the connector but not the conductor two years ago. This is with the CZI funding. Our organization invested in creating a therapeutic development arm, bringing the necessary talent in-house to help us proactively bring forward promising therapies to patients faster. And this is a really key point because as I’m sure you’re all aware, so many rare disease programs get dropped at various points in the pharmaceutical biotech setting. And so these organizations are picking up the pieces and ensuring that doesn’t happen. And as Marianne says, we’re not sitting on the sideline and hoping change comes, we’re rolling up our sleeves and making it happen.
(14:39):
And a few other examples, I’ll just breeze through here, although they deserve so much time, the Test Research Foundation and the Rare Respiratory Palomas Foundation in the time period of the grant went from TESS Research Foundation went from patient number one and two. The picture that you see here of this family, the mom that leads the organization, Kim Nye, has had the first two children in the world pictured here with this disease. And in less than 10 years, they now have an FDA approved gene therapy IND and will be their own trial sponsor Again, having had a pharmaceutical drop this trial, they have now taken it on themselves. And the rare Respiratory Palomas Foundation, which joined the Rares one network with a budget of I believe around $48,000 this year had the first FDA approved therapy in the disease area. And this was the result of significant effort by the foundation to utilize the survey data from its registry to persuade the FDA to accept community defined primary endpoints for the trial, which was really a key factor for the pharmaceutical company that was the sponsor of the trial to keep moving forward.
(16:04):
And so that was a tremendous win for that community and again, really was the result of the efforts by the organization to host this patient-focused drug development meeting with the FDA to have developed the registry, which had the survey data, which ultimately was persuasive to the FDA. And so without these organizations, these major wins would not be taking place. And so we’ve seen this collectively across the RES one network. This is just a report from the first 50 organizations in the network. As Rachel said, there’s 94 currently in the network, but we have done a collective impact review of the first two cycles. And we saw that these two cycles of organizations, again, super nimble, small patient led organizations have engaged more than 21,000 new researchers in rare disease into their disease areas. I think it’s a stunning number. They have supported more than 500 research projects funded, co-authored, and contributed data to nearly 200 publications, collaborated, sorry, collaborated with industry partners.
(17:23):
40 out of 50 of them have built or collaborated on a registry that, as I just gave an example of is hugely critical to driving forward research in these disease areas and supporting therapeutic development supported the development of natural history studies. 33 of them have contributed or developed a biobank. 20 of them have developed centers of excellence and 35 out of 50 were involved in clinical trials in one way or another, playing a critical role in that trial with, as I just shared, one FDA drug already approved. And so we are really inspired by this progress and the incredible efforts we see taking place across the network. And the one other really tremendous area of impact that we have seen has been the network itself, the effect of the network, we call it the network effect. And those are the synergies and collaborations that we see taking place across the network.
(18:22):
So this is our family in 94 organizations from around the world who are on calls together every couple of weeks calls that are organized by us, but who are also on calls with one another all the time on their own. So in addition to the many offerings which we provide, these organizations have formed their own working groups, some of them just a couple, two or three organizations that are working on specific projects together. Some of them larger working groups than that. They collaborate on the forum and share information with one another as I was saying. And they now, it’s just been amazing to grow alongside them and to see how they show up at each other’s conferences, how they go to other professional society conferences together. They have afternoon tea, the organizations or leaders that are near one another and providing just emotional support to one another. And it’s become an incredible family. They all call it a family and drawing from this. So in addition to the support and the collaborations that we see, we have also seen numerous scientific synergies appear across these disease areas. So they were not selected based on the science, based on what they had in common. They were really selected based on what we saw as the leadership potential.
(19:49):
But what we saw immediately was that there were all of these synergies that were appearing at these leaders and the researchers within their networks were identifying. And so really hoping to optimize for that in our last cycle of funding cycle three, we aim to build upon this kind of foundational rare one network approach of building the capacity of patient library disease organizations to accelerate research, but to really double down on this network effect. And so we funded specific sub cohorts of organizations that were focused on three primary scientific areas and inherited metabolic disorders and really hoping for the potential of these disease organizations to benefit from the increased opportunity for cross disease research alignment with other organizations along new lines. So not just like we’re both respiratory diseases, but actually share the same biological pathway and then also to be able to leverage other opportunities at the biohub. So for instance, held a recent meeting on cies and imaging with the imaging team at CPI and we’re now moving forward to build Celia Atlas to really capture data across scales across multiple cies. And so really excited about those types of opportunities. So another organization that we’re supporting is the Timothy Syndrome Alliance. I just want to give you just a little snapshot of a few organizations around the world that we’re supporting before we break to talk.
Rachel Jones/NPF (21:38):
Let me stop you right here so I can remind the journalists to please put your microphones on mute. Okay, everyone, please mute your laptops.
Heidi Bjornson-Pennell/Biohub (21:56):
Okay,
(21:59):
Thanks Rachel. So the Timothy Syndrome Alliance is in an organization in the UK that was funded through our last cycle three, and they are focused on the diagnosis, treatment and care of individuals worldwide with CNA one C related disorders. And we already had two organizations within the Rares one network that were focused on similar diseases, so CNA one A and CAM K two. And so bringing these organizations together around the world, the three of them are really able to work specifically together and have been really collaborating in numerous areas. And so that type of opportunity is really exciting. We see this happening across the network efforts to aggregate and harmonize data we’re supporting. So the channelopathies for instance, we’re supporting the development of across data portal so that this data can really be aggregated and harmonized across these related disease areas and supporting these organizations from around the world to collaborate in that way.
(23:08):
We have also been supporting an organization named ALPA that’s in Argentina that works to protect, respect and defend the rights of patients and people with disabilities including rare diseases. And they have led multiple critical research initiatives in Argentina, working to create a rare disease registry, integrating clinical and research data and a biobank to create a comprehensive system for studying rare disease, developing a global disease network that’s a network and sequencing platform for rare disease diagnosis and also is working to really connect researchers in Latin America to global genomics networks, developing a biobank, providing genetic diagnosis and more efforts like that. And so this has been a really wonderful organization to support and again, has I think really benefited from capacity building support in these efforts. Casada ROS is another example of that. It’s in Brazil. It’s the first comprehensive care center for people with rare diseases in Brazil.
(24:17):
It’s now being expanded and is really served as a model for what healthcare can look like and has been scaled in other centers in Brazil and is actually being looked at more broadly in Latin America as a model. They provide comprehensive multidisciplinary care, a very holistic approach to continuous patient support in under-resourced regions that combine telemedicine with in-person and remote consultations, providing advanced diagnostics and genetic counseling, cutting edge research, developing genetic therapies, and really training the next generation of health professionals in rare disease research and care. And so this is also a really tremendously exciting effort and somewhat related to this, we supported an effort called ER L, which convened the local patient groups, researchers and physicians, medical societies and other stakeholders across Latin America to catalyze discussions on national activities, needs and opportunities for the region. So this was the first congress on rare disease in Latin America and the Caribbean.
(25:32):
I was really lucky to be there and was so deeply inspired by this really what it means to be the first time that people are really coming together and the huge potential that comes out of that. In preparation for the meeting, there were 11 country specific meetings that were held in Guatemala, Venezuela, Bolivia, all across Latin America discussing the state of rare disease legislation and policies and what the needs and opportunities were in each of these countries. And then bringing that together in this first congress. And numerous opportunities emerged, as you can imagine. One that I think was really interested in from a rare one perspective was efforts to connect the Latin American advocacy groups with US and other global patient organizations efforts to or opportunities to implement a patient registry program which was really viewed as critical conducting mapping of the economic burden of rare disease in Latin America.
(26:40):
Also, mapping of the research capabilities across the region and how researchers could work together and collaborative efforts might be funded, opportunities to initiate genetic counseling programs, policy efforts and opportunities to expand efforts like Casados ROS that I just discussed on the previous slide to other countries to support rare disease research and care infrastructure in Latin America. And so these types of efforts are also taking place in other regions of the world in Asia and Africa and around the world. This is just supposed to be an example of the type of work that we are supporting and have been really interested in. And just to give one more example, an organization called that we were just most recently engaged in this hackathon that’s discussed here, and that was led by the Wilhelm Foundation. It’s an organization located in Sweden that was founded by Helene and Moff who were two parents who lost all three of their children to a disease that was never diagnosed.
(27:47):
So one child after another died and they never knew why, despite seeing all the best experts in the world. And this tragic story really led these parents to turn their grief into action and their organization now works to end the diagnostic odyssey for all people with an undiagnosed disease by fostering collaboration between researchers, clinicians, and patient advocates. So we know that there’s over 400 million people living with a rare disease. It’s estimated that 350 of them are living with an undiagnosed disease. 60% won’t receive a diagnosis through traditional testing. And so the Wilhelm Foundation launched the undiagnosed hackathon, which brings together over 100 clinicians, geneticists, bioinformaticians, AI experts, patient advocates from around the world to push the boundaries of diagnosis, data analysis and collaboration. And they just held the most recent one at the Mayo Clinic in Minnesota. They had an over 40% diagnosis rate of the cases that they attempted to solve in just those couple of days of these researchers coming together and tackling these cases that no one had been able to diagnose.
(29:12):
And each of these hackathons has resulted in multiple novel discoveries and many, many publications that have come out of them. And I think really demonstrate the power of international collaboration, of open science, of data sharing and what can happen when we really all work together in rare disease. And so in short, we have seen that patient-led efforts are advancing diagnosis care and therapeutic development at an incredible rate. These are just examples of some of the ways that we see patient organizations really driving forward research and having impact in this space. So they’re developing and managing biobanks, creating patient-centered research roadmaps, funding research, coordinating research networks, developing ICD 10 codes that are critical for really being able to track the data in the disease area, supporting natural history studies, driving data standardization, facilitating drug repurposing, establishing centers of excellence, and so many more as you see here. And so with that, I really just would love to open this up to conversation and to say that I think critical to all of the work that I just shared is capacity building support for these organizations so desperately both need and deserve that support. So yeah, thank you so much for listening and I’d love to talk.
Rachel Jones/NPF (30:48):
Thank you so much for that. Heidi. I see a really interesting question from Simon, so please jump in and ask it.
Simon Spichak | Being Patient (31:01):
Thank you for the fantastic talk. It is really interesting to hear about the initiative and how fast things are scaling up. So I’m a journalist based out of Toronto, and I was really curious if there’s something about certain rare or ultra rare diseases like the K one A that you discussed that make it more likely for pharma and researchers to jump in with something that isn’t caused by an obvious mutation, have more difficulty making the same progress.
Heidi Bjornson-Pennell/Biohub (31:29):
I mean, that’s a challenging question. I think there’s so many factors that come into play. I definitely think that there’s some rare disease areas, and this is one of the things that we try to provide support for in the network where if we can stop thinking about these diseases as disease by disease and we can identify where there’s opportunities for these organizations to work together, where there’s opportunity for basket trials where certain rare cancers for instance, can benefit from other cancer research that’s taking place, or where an ultra rare pulmonary disease might have association with a more common pulmonary disease, and if there’s ways that you can piggyback on things and collaborate in order to have more interest from pharma, I think that’s a very powerful and effective approach. I don’t think that KIF one A that there was anything about it as far as I’m aware, that drove interest in the gene other than the fact that this organization was pushing in a way that you can’t imagine.
(32:39):
And I think that’s what we see across the network, that either it’s very challenging to get interest in any of these disease areas or if there is interest, it’s for financial reasons. These rare diseases are often being dropped from pipelines, and it’s really that these patient organizations are here and that they’re continuing to push, which is what I think is making these discoveries get across the finish line as opposed to disease areas where those organizations don’t exist and there isn’t that network of people that are really clamoring for progress. Also, I think that the efforts that these organizations take to really build the infrastructure to drive forward research is really key. So when there is a patient community that’s very engaged, where the organization has been doing ongoing work to engage the community and have close relationships with all of the people in it when it comes to enrolling a clinical trial, they’re able to do that in record time, which is something that’s always extremely challenging for pharma to do that when they have built the infrastructure, as I think I said with KF one A, developing the cell lines and the registry and the biobank, all of these types of resources that really enable research, it makes it much more appealing to pharma and researchers to be engaged in the disease.
Rachel Jones/NPF (34:10):
Let’s go to Somrita. Question for you.
Heidi Bjornson-Pennell/Biohub (34:16):
Hi,
Somrita Ghosh | Independent (34:17):
Samita? Yeah, hi. Hi. So I’m a journalist based in India and I have very simple question, so I just wanted to know that by her planning already has initiated any programs in India for rare disease patients, as in has the body already invested in funded for any patient or planning to collaborate with any research body for
Heidi Bjornson-Pennell/Biohub (34:49):
Disease
Somrita Ghosh | Independent (34:50):
In India and Indian subcontinent?
Heidi Bjornson-Pennell/Biohub (34:52):
Yeah, so we are not currently supporting any patient led rare disease organizations in India. We have had conversations with numerous initiatives there. There’s actually some very exciting patient work that’s taking place there. And I certainly know the incredible unmet need there in rare disease and opportunity. So the answer is no, we have not yet done that. I think it remains a really important opportunity for all of us to be thinking of that. I don’t know the answer as to whether or not CZI now Biohub has supported researchers in India, but I would suspect that we have because I just don’t know the answer.
Somrita Ghosh | Independent (35:41):
Okay, thank you. Thank you so much.
Rachel Jones/NPF (35:43):
I think Evans from Zimbabwe had a question.
Heidi Bjornson-Pennell/Biohub (35:53):
Hey Evans,
Evans Jona | Post On Sunday (35:54):
Thank you so much, Heidi, for the presentation. I would like to say that I learned quite a lot as far as the rare as one project is concerned. I mean, I’m impressed by how it’s empowering patient groups and creating support systems for individuals living with rare diseases, but I believe that the long-term impact of such initiatives depend on sustainability of the infrastructure that they establish. So I’d like to understand what strategies or mechanisms are currently in place to ensure the advocacy networks and resources or organizational structures created by the project remain active and effective. And additionally, how is the project planning to maintain engagement funding and capacity building for patient groups?
Heidi Bjornson-Pennell/Biohub (36:42):
Yeah, that’s such a good question. Thank you for asking that. So in terms of maintaining the infrastructure, I think that that really is dependent on the organization being able to become a sustainable organization. And so this is actually part of the reason that we’re placing our bet on patient organizations is that as you may know in many of these disease areas that researchers might start a study and then when they’re done with their project, then they don’t support the natural history study anymore. The ongoing interest remains for the patients. And so when the patients are leading this work, we don’t see them dropping it. They’re not going to stop until there’s a cure. And so the only thing that’s going to stop them is if they don’t have funding. And so our effort is really to support the sustainability of these organizations, and that’s what all of our trainings are around our initial capacity building support to hire key people like development directors.
(37:45):
And we’ve seen all the budgets of these organizations increase not just from our funding, but beyond our funding and then also beyond the grant period. We are continuing to track the progress of the first two cycles of organizations and all of them have had continued increase in their operating budgets. And so I think these efforts and fundraising training, we provide training around community fundraising, grant writing, major donor fundraising, and this looks different in different parts of the world, I think. And so that is a challenge that we haven’t fully addressed yet, and it needs to be addressed and we think about this at a global scale, but our effort is really to promote the sustainability of these organizations. And then the second part of your question I think was how we sustain engagement is that right? So we continue to engage the organizations in the network.
(38:41):
We consider it one network, not just funded grantees and alumni like everyone who’s been a part of the network remains a part of the network and remains able to engage in all of the active conversation. We just held an amazing meeting where we invited all three cycles, including the first two cycles that are no longer funded to an in-person meeting. And it was incredible. You couldn’t tell the difference who was a part of what cycle. It was one family working together essentially. And so we develop an alumni survey that’s delivered every year, and we have had 100% engagement in that survey, which I think is kind of unprecedented and I think demonstrates the real benefit that’s coming to everybody to continue to participate in the network. They’re able to continue to engage in many of the trainings and resources in the forum conversation. And again, I think that speaks to the network effect and how powerful that piece, even without funding is to be able to rely upon one another.
Rachel Jones/NPF (39:48):
I had a question about this issue of collaboration. What I have found when moving in rare disease circles is that one organization focused on say, neurofibromatosis versus the other one focused on Duchenne muscular dystrophy, et cetera. But again, that passion, that focus, that absolute sort of single-minded pursuit of solutions and cures for their child and for that group of people, does that sometimes get in the way of collaboration when everybody is so laser focused on their own specific goals versus maybe trying to fold everybody into the conversation?
Heidi Bjornson-Pennell/Biohub (40:36):
Yeah, I mean, I think there is a tension in the rare disease space between working together and getting to your end goal as fast as you can. And with a thought process that collaboration might actually slow things down. I think there’s a couple of things that come to mind there, and one of them is that frankly, I don’t think the concept of collaboration has even dawned on many people. Sometimes I think it’s part of the effect of the rare disease experience that you feel like you’re the only person in the world, you’re extremely isolated, you get landed with a disease that no one’s ever heard of, your doctors don’t know anything about. You start an organization all by yourself, you’re looking for people, you’re just going on this singular track and aren’t even aware. How would you know as a parent that there’s all these other rare diseases that might have something in common with yours across many different dimensions?
(41:37):
And so I think some of it’s just a lack of awareness, and that’s one of the things that I was trying to describe that we’ve seen in the rare as one network is that then all being in the same room together, you’re like, oh yeah, we have that too, or we’re in that pathway also, you start to see that there’s these opportunities that had never been apparent before in ways that you could work together and that there’s benefit in doing so. And so part of it I think is just being able to see that opportunity and how do we make that more visible to people. So we’ve created this synergies tool that currently is available within the network to support the identification of those types of synergies and being part of a network supports that, but how can we do that more at scale? And I think that’s something that we’re thinking about at CZI.
(42:24):
And then I think also to answer your question, I mean it’s true that there is a tension and I think it’s about finding where’s the right place to collaborate. I don’t think we need to collaborate on everything, but what are the opportunities where it becomes more valuable and where we can pursue both our own individual path is needed, but also more collaborative ones. And so I think there’s going to be more and more opportunities that way. And I will say from our disease class calls that we’ve been having with the cycle three disease areas that we’ve supported, channelopathy, cies and inborn metabolic disorders, the list of areas that they want to work on together is beyond our capacity. There are so many ideas that in one year they have generated for projects that would benefit all of them and really lift the resource requirement on each one of them individually if they were able to receive funding for those or have crosscutting support across those projects rather than each one of them trying to develop a separate biobank or do all of these things. So I think that’s where the opportunity lies. But yes, definitely it’s attention.
Rachel Jones/NPF (43:46):
I want to hear more about er cal, and I’ll tell you why, because I spent 10 years living in East Africa, and so I have some awareness of some of the research centers on the continent, Nigeria, as is one, South Africa, Kenya. These are places where the infrastructure is a little bit stronger in terms of education and thinking ahead about biotechnology. But there are parallels between the need and the access on the African continent South America. And then as some Rita suggested, the Indian subcontinent, which there’s lot of technology and biotech going on pharmaceuticals, et cetera. But South America was able to collaborate and pull together this er cal collaborative. So what was it about what was going on in South America that made this collaborative come together?
Heidi Bjornson-Pennell/Biohub (44:54):
Yeah, I mean, to be honest, I wasn’t a part of those conversations until they came to us with the concept. But I think that as you say, there were a number of initiatives going on, I think the problem was actually there was a lack of collaboration and a significant lack of resource across the region. And I think what really drove this effort was a recognition. It seems to me that what drove the effort was a recognition that without coming together, it was going to be really hard to make progress. And so some of the opportunities that I shared that came out of that effort were really about the resource mapping, for instance, was really highlighted as one of the top opportunities. This person can do this type of testing, this person has this resource. If we bring these people together, we can actually make progress on our own. We’re just kind of not going to be able to do that. And so I think it was just that kind of breaking point of realizing that collaboration was really needed. And yeah, it was a really inspiring conference. I think that to be there at that moment where that change was really kind of the possibility of change was really visible. So
Rachel Jones/NPF (46:21):
I wanted you to perhaps think about our next session is going to be about funding, creative funding sources, philanthropy, how to fuel that. And so from your perspective, is there sort of a bottom line that a lot of these conversations and a lot of these goals and plans are really going to depend on increased funding? Is that going to be a barrier for some regions of the world?
Heidi Bjornson-Pennell/Biohub (46:55):
I mean, I think it’s a barrier for the US right now and certainly a barrier for other regions of the world. You’re asking in terms of increased funding for patient organizations. So you’re talking about rare disease in general. So I think that it looks different. I think to Evan’s question also, I do think that it looks a little bit different and the expectation for the amount of funding is different in different regions. And even the way the patient organizations look, I think is somewhat different in different parts of the world. So for my experience in Latin America is that while there are numerous individual patient disease organizations in general, there’s more umbrella type organizations there, which I think reflects a lack of sufficient funding for each disease area to take its own course. But at the same time, I think that provides a really important opportunity for those diseases to work together as well.
(48:00):
And so I think what support for these organizations looks like is potentially a little bit different in different places, but without that capacity building support, I do not think these organizations will be able to have the impact that they’re having. I mean, we see incredible patient efforts that are tireless. All of these organizations led by parents, patients, they’re burning the midnight oil, they’re doing this work on top of their day job and top of taking care of their very sick children, but there’s doing incredible things, but there’s limitations to what a single human being can do or what a person that also as a day job and is taking care of critically ill child can do. And so if they’re not able to hire key staff to be able to be on call regardless of if their child is suddenly in the hospital or whatever and be able to move forward these initiatives, they really can’t continue to make the progress that we’re seeing.
(49:04):
And so I think that bringing other funders into this space is really critical. And I think that pharma is starting to see, for instance, the real benefit that these patient organizations bring, that it’s not just a nice to have that it’s not just patient engagement because it’s good to do, but that these organizations are really driving forward research and critical to the end game. And so I’m very hopeful that we’re getting to a point where this is really being, it has really been proved to be honest, and that it’s time for others to step up and really begin to support these communities.
Rachel Jones/NPF (49:48):
I am going to let you wind down your session by giving us a little bit more information about the vision of Biohub and what you hope to accomplish, but also give us several stories that you would like to see journalists around the world produce about this issue of collaboration.
Heidi Bjornson-Pennell/Biohub (50:14):
So the vision for Biohub, it’s essentially, I think our vision very similar to our vision that we’ve, I mean, our mission is the same to help care prevent all disease. And I think the way that we are going to achieve it has under the new Biohub entity. I think there’s more of a focus on artificial intelligence and how that can also accelerate biological discovery. I think what is really going to be key from my perspective is patients and the role that they play in these biological discoveries and curing disease. And so I am very excited that we’re an institution that’s bringing together these three concepts of biology, artificial intelligence in patients. I think it’s incredibly unique and has incredible transformative potential. What stories would I like journalists to cover? I think that we need to, I really think that we need to elevate these stories of patient-led efforts around the world.
(51:27):
I think that the efforts that they’re making are transforming these disease areas and they’re insufficiently covered I think at this point. But what I think is really unique and what has really been the power of the rare is one network is how these organizations have worked together and how they’ve worked together across borders, how they’re building communities, patient communities, research communities across borders, partnering with other organizations, sister organizations around the world and how that’s having an impact and how they’re able to go on parallel tracks and support one another in different regions. And I think that’s a unique story that’s not really being told. And I think really shows what needs to happen in order for us to really think about addressing rare disease. Because any individual rare disease is not just happening in the United States. It’s not where the majority, I mean patients are scattered everywhere, and we really need to be thinking about this at a global level. And so I would love this community to be addressing that. And I think we need to do a lot more uplifting of the work that’s taking place in regions beyond the us. I mean, maybe I’m not just sufficiently exposed to those stories, but I would really love to see those patient efforts being uplifted around the world.
Rachel Jones/NPF (53:00):
I’m going to let Asako share her thoughts with you because I think it’ll be a powerful way to end this conversation. Asako, thank you.
Asako Takaguchi | Kyodo News (53:10):
Thank you Rachel. And thank you Heidi for all your insights. So this is not really a question, this is a reflection when I was listening to Rachel’s question and your response to it. So I a rare disease patient myself, I hope you are, everyone is not too tired out of hearing this, but I am a patient myself and I am participating in a patient’s group in Japan too. So I am a journalist based in Japan and I am joining the patient’s group in Japan. But I’ve always felt that levels of certainty vary so widely from one condition to another. Everyone is different, the symptoms are different, the degree of seriousness is different and treatment is different. So everything is different. And because of that, I used to believe that collaboration among patient groups with different diseases could be almost impossible, and that will be very difficult to unite with rare disease community. And that was my idea. But the idea, so you said that, but the lack of awareness is a common challenge among the all patients group. You said that and it really struck me. So it was an eyeopening and it made me realize that how important it is to work together based on that shared the issue.
Heidi Bjornson-Pennell/Biohub (54:42):
So
Asako Takaguchi | Kyodo News (54:42):
Thank you so much and
Heidi Bjornson-Pennell/Biohub (54:44):
Thank you Asako for sharing that. And if I can just respond, I really agree with what you’re saying and it’s one of the things that we’ve seen in the Rares one network and that I also wasn’t sure what that would look like. And just to give a little, I maybe should have said this at the beginning. I’m also the parent of two children with a rare disease, and in my mind, so their rare disease is primary ciliary dyskinesia. And when they were first diagnosed, there was very little known about the disease. It’s similar to cystic fibrosis. People used to always say, oh, it’s the less bad version of cystic fibrosis. We now know that there’s 50 known disease causing genes. There was one when my children were diagnosed. And that there’s huge, tremendous variation between the different genes and what the phenotype looks like. Some more severe than cystic fibrosis, some less severe.
(55:37):
And frankly, we probably really just don’t know still. But one of the things, so I guess for one thing to say that in many of these diseases, we don’t even have a clear picture of the disease. We don’t even know the full impact of them. We don’t have good natural history studies for the majority of these diseases. Vast majority of patients haven’t been diagnosed. We don’t even know what the diseases look like really. And so that’s one piece. But then also I have really been struck by in the rare as one network there, I did not think, I did not know what it would look like, what would happen, and thought it was possible that like, oh, we’re the really severe diseases. We’re over here and there’s your problems not so important or whatever. And that’s just not what we’ve seen at all. Everyone is all in it together. And I think part of that is just an empathy that comes from being in this space. And then also just that there are so many cross-cutting challenges that impact all of these disease areas and that are ways that they can really work together. So around data standardization or ICD codes or just all of these topics or things that affect everybody and are ways that we can really join forces. So
Rachel Jones/NPF (56:51):
Well, this has been a powerful conversation about collaboration, supporting advocacy, and I’m sure all of the journalists benefited it from it as much as I did. So I’m going to take this opportunity, Heidi, to ask you to please keep in touch with us with news about developments with Biohub, your activities, and what the organization is accomplishing so that I can share this information with the rare disease fellows. So Heidi Bjornson-Pennell of Biohub, formerly Chan Zuckerberg Initiative, thank you so much for joining us today.
Heidi Bjornson-Pennell/Biohub (57:31):
Thank you, Rachel. It was really a pleasure to be with all of you, and I appreciate so much your interest in this work and for all of your efforts to lift it up. I’ve put my email address in the chat and I welcome any of you to reach out anytime. Thank you so much, Rachel.
Rachel Jones/NPF (57:47):
Take care, Heidi. Bye.
