How patients are driving transformative science in rare disease

[Music] hi everyone I'm so excited to see you all on this Saturday morning and you know this is a heavy topic for Saturday morning but it is so inspiring and you're about to meet some true American heroes and I'm so excited for you to learn about what they're doing but first I wanted to repeat some of the statistics that you all just saw in that video because they are really staggering and I think they bear repeating there are more by the way I'm Katie kurick hi sorry I forgot that um there are more than 7,000 known rare diseases 30% of children with a rare disease will not live to see their fifth birthday 400 million people globally have a rare disease 400 million people 95% of rare diseases have no approved treatment or cure so as I said we're about to meet some heroic people who are on the front lines of the patient advocacy movement for diseases that many of you honestly I hadn't ever heard of so I'm excited to be joined by Tanya C melli she is the vice president of Science in and in society at czi the Chan Zuckerberg initiative Jennifer canvas who founded the necrotizing inoc colitis NEC Society after losing her 11mon old son Micah to the disease Nasha fitter is the co-founder of Citizen that's a patient directed healthc care platform for rare and complex diseases a program she launched after her daughter Amara was diagnosed with Fox G1 and they were in the video that you all just watched and finally Dr mle Lech is a rare disease researcher who is also a rare disease patient so there is enough brain power excuse me on this stage to save the world and that's really what they're all doing so let's just start by giving them all a round of applause uh Tanya I'm going to begin with you I know you've been at czi for almost seven years so why don't you explain the impetus for launching this Flagship project rare as one sure um first of all thank you so much Katie for I just want to thank you on behalf of all of us not just for hosting us here but for just your extraordinary commitment to patient advocacy and just all of the advocacy that you've done over the years it's just it's just incredible um for all of us to be here so thank you thank you um so the impetus for raras one uh was really sort of twofold I mean first it's just the extraordinary unmet need um that and the urgency and rare disease that you just rearticulated in in um talking through some of those kind of unbelievable statistics I think people hear rare disease and they think oh well those are really rare that doesn't happen to me but it turns out that um on average one in 10 Americans um faces a rare disease at some point in their lifetime it is not collectively rare diseases are not at all rare they're quite common in what is the threshold to be considered a rare disease because I was shocked by this as well Tanya so in the United States we Define a disease as rare if it affects fewer than 200,000 people but what's important to understand is of these 7,000 plus rare diseases many many many of these diseases are considered ultra rare or much more rare than that so many of them affect more like 2,000 people around the world it's also really confusing because we actually aren't very good at knowing how many people are impacted because there's this extraordinary diagnostic Odyssey in rare diseases where many many patients remain undiagnosed for many many years don't know what they have we're still discovering rare diseases every month um so this is an ongoing Global Health crisis that is actually getting bigger rather than um smaller so talk a little bit about czi and what you all are doing and how it started and why sure so we recognized there was this extraord orary unmet need that fewer than 5% of these diseases have any FDA approved treatments um and the problem in rare is that the traditional academic research model is really failing these diseases and what we what we observed was that more and more really over I'd say the past 15 years there's been this rise this sort of proliferation of patient advocacy groups that are really going beyond what traditional patient advocacy groups have always done and do really well around disease awareness campaigns and generally raising money for their disease and they're actually taking on these incredibly active roles in driving research forward you heard David say in the video I'm not going to wait for at the academic research establishment to catch up to me to my disease I just need to go do this myself and so how are they doing this they're doing this by recognizing that the most important thing that they need to do is to build a really really strong research ready patient Community patients who are willing to um help move the goalpost share their data share their specimens they're they're doing the work to build research assets to attract researchers to the disease um to say look we can build a registry we can build a biobank so it's easier for you to study the disease they're drisking their diseases making it easier for them to study and some of them are doing things like going back and getting a PhD themselves like you saw Tracy in the video and recog izing that they just really want to take on the role to drive this forward so we set out to say um this is happening some of these groups were making unbelievable progress completely changing the research landscape in their disease areas and they were doing it on like really few resources like scrambling together B doing bake sales and you know GoFundMe campaigns and having a few individual donors um come in and help them but there were no major philanthropic organizations and certainly the federal government was not directly funding patient communities and I so I set out to build a program that at its you know heart would really recognize that patient communities are absolutely Central um stakeholders in biomedical research and um that we would actually directly fund patient communities and really learn alongside these groups to figure out how do we optimize the power of patients to accelerate research and development develop new treatments and cures in rare diseases and that's what the rare is one project is about and of course A lot of these patient communities have a lot in common when when all is said and done and we'll talk about that in a moment but first I wanted Jennifer talk to you about your son Micah who as I mentioned died of complications from necrotizing inoc colitis or NEC uh just before he turned one which is I know must have been an unbelievably heartbreaking Journey For You Jennifer so tell us about NEC because I don't know much about the disease and what treatments were available when he was diagnosed y so necrotize Inc colitis also known as neck or NEC um is an intestinal disease that typically affects babies who are born either prematurely or at the medical condition and it is very aggressive so often when these babies are being diagnosed it they have become incredibly unstable often it's a medical emergency and their rest to surgery and sometimes the babies don't even survive past a few hours or days so it's very devastating there is no way to prevent the disease and there is no cure for the disease so you can imagine this is a really urgent issue that our families are facing um and so after Micah had passed away I was learning how to function live breathe eat sleep without my son in my arms and I I looked around for a nonprofit that was working on necrotitis intis and I was really shocked to find that no one in the world there was not a nonprofit anywhere in the world that was bringing the community together to advance research education and advocacy and there was no way that I could experience the pain of that void and not do anything about it I knew that I had a little bit of resources and skills and and background that I can help and so that's why I founded the next Society how many how many people are affected by this disease and how hard was it Jennifer to actually contact all these people because they must have been sort of far and wide how did you kind of build that Network cuz you have to first know people who are experiencing thing absolutely so neck affects about approximately um up to 10% of the babies that are in our Nic use um and about 50% of those babies will die from neck so it is really a devastating diagnosis um I would say that we've been able to connect with families um through social media and virtually like they find our website and now we have created kind of a platform where families can find us get resources and empowerment information so that they know they're not alone they're not feeling isolated like I was when Micah was diagnosed and when he tragically passed away so um thankfully we've been able to connect the leading clinicians and scientists and now family advocates and bring everyone together and we are advancing the research um in hope that we have a world without this really devastating disease in our future we're talking about a lot of babies Jennifer absolutely right how do you have a number about 500 babies who die from neck in the US every year and then thousands more are diagnosed and they survive but they often suffer with lifelong complications they have short gut syndrome um cognitive impairments and so forth so it's a very devastating diagnosis I know Nasha as I mentioned your daughter Amara has a rare disease called Fox G1 and uh it's a neurodevelopment neurodevelopmental disorder caused by a mutation in the fox G1 Gene which is critical for for brain development we saw Amara uh tell us about some of her first symptoms and how it's affected her development yeah so you know Amara was delayed in the beginning but our pediatrician just kept telling me that hey you know some kids develop later don't worry about it um and then she started actually having seizures and in many way the seizures really saved us because we were able to get a genetic diagnosis we able to get genetic testing where other families have to wait many years before a doctor will actually put that testing forward um so she started having seizures you know she is very very lucky in that she is mobile when she was diagnosed I remember the expert on Fox G1 um this uh doctor told me that she would never walk um she would never talk um you know she would have a lifetime of seizures she'd probably be eating with a feeding tube and this is true for the majority of our children but at two and a half a Mars started walking and that really took me back that the leading expert was had literally told me when she was diagnosed which crushed me that she would never walk right and so um but yeah most of our kids are suffering and it's it's also just the in and out of the emergency room and the hospitals and the the impact on the entire family um even Amara you know we one of us has to sleep with her every single night um my husband or I um she has tremors at night we don't know why she'll spend days that she's just crying or screaming we have no idea why we don't know how to fix it so it's a very it's a very difficult condition tell us about the foundation that you started and and it's pretty amazing what you've done by the way thank you um so the foundation you know I did get together with other other mothers and fathers and it was again you know do we wait for research to come and help us or do we help ourselves and so we went ahead and we raised millions of dollars and we built Mouse models and cell lines and we're really lucky in this time in science that we have genetic therapies we have Gene therapies and many times you know your doctor or researchers will just think you're stupid because you're a patient or a patient advocate or a parent you don't have a medical degree but actually a lot of this is learnable and what we have is the lived experience and the desire to create this change just in a much more rapid rate than anyone who is just their career and so we have developed a gene therapy we did it completely on our own we had didn't have a single Grant mechanism except for when Tanya came in with czi to help us no federal grants no state grants nothing for patient groups and in seven years we built a gene therapy even a Pharma company would it probably take twice as long if I'm honest um we did it on a shoestring budget and now we're raising funds to get to a clinical trial and what's amazing is Pharma started expressing interest and learning more about the disease because of your research right that's how it works right once you get research out there Pharm is like okay it's D RIS there's understanding there's a patient Community it's organized if I run a trial you'll recruit for me and and this is the power of of really patients coming together I know that Nasha czi is supporting something you're doing as I mentioned it's called citizens it's the foundation can you all hear me okay good okay it's the foundation you co-founded uh in partnership with the fox G1 Research Foundation you're developing something called a digital natural history study using machine learning okay that sounds a little like Latin to me so help us out what is that what is that what is a digital natural history study yeah it's it's a lot of words so actually citizen is a company um and the you know the foundation our foxy1 Research Foundation is really focused on finding a cure for Fox G1 but in that process process I realized that there's no way could find a cure without understanding the patient symptoms across our community and it's impossible to actually figure that out in the current model where you know you have academic centers set up across the world patients go in tell people about their symptoms that gets captured that just doesn't work if it's a rare disease our patients are so few they're spread out around the world and so this is where I really felt and you know my my background is in Tech that why don't we just collect the medical records and we can use machine learning and AI to extract information from those medical records and you have human review Etc and then we can compile kind of a database of just what symptoms our patients are having it actually seems very obvious and you would sort of think that this already exists that you know if you see a doctor with a symptom they go into a database and they could see all the other patients with that same symptom what they're going through but it's not like that at all you are basically you know reliant on that doctor and that expertise and so this is really a way to create this plat form where we can follow the patient through their entire Journey get every information patients have access to their own data which by the way I don't know if any of ones tried to collect their own medical records it's very difficult um so you know we give access to patients then we can do a lot of stuff to actually push research forward so this is for patients with Fox G1 or for all rare diseases it's all rare diseases so you know really started the platform it started in oncology then we moved to neurology because of a and everything we were doing and now we've opened up to Cardiology and we're going to different diseases but the idea is this really becomes a platform where any disease Community can come all their records can you know be collated it helps the patients and then it drives research that's amazing I know uh Tanya and we I'm sure we're going to be hearing a lot about AI during South by Southwest but it does have the power to transform a lot of things including rare diseases but there are also some hurdles that you face in terms of accelerating this change so can you talk about both sort of the challenges and the promise of AI and mle I promise I'm going to get to you you Brave man who's a part who's a part of this the she collab for crying out loud poor mle he's like hello what about me I you're next but but before we do Tanya can you talk about AI because you know we're all afraid of it on some level is it going to take our jobs how are we going to deal with it but in medical research it is an amazing tool so can you just talk about that yeah so I think everyone in the rare disease Community is recognizing that um there could be some extraordinary applications of AI um large language models machine learning um two rare diseases that could really catapult um this um you know research and the development of new treatments um but there is sort of a word of caution here and and the problem with the problem with this is that the biggest challenge in rare disease is that we haven't studied most of these diseases that we don't have natural history studies for the vast majority of these diseases we haven't characterized them we haven't generated sufficient data that you need to power these AI models right right so right now if we were to run large language models and try to make predictions about which diseases you know which treatments might work for which diseases existing treatments um that we already have out there or or how you might point the way to developing new treatments or identifying new targets um those models are going to buy us toward more common diseases where we have generated lots of data now that's not to say that it's impossible we have to sort of build this it's it should really Galvanize us to do even more now to build and to do the research to generate more data on rare diseases so that we can actually Leverage The Power of AI and so once you gathered the data to create these large language models which I guess is just the foundation for AI right all the the material that's been amassed what kind of exciting developments might happen for people on this stage or people with reare diseases everywhere yeah so I think we're going to be able to start making predictions understanding things like um what happens you know what triggers disease in the first place that's really interesting so like why do healthy cell states start transforming into disease cells disease cells what happens in cancer what happens in all the neurod development disorders um what happens when you have one mutation one specific mutation along your Fox G1 uh Gene versus a different mutation and we can start actually making predictions about what what you might expect to see rather than having to wait to have all the pop have all the data um assembled or all the patients assembled so that's really interesting I think um we might be able to start making predictions about potential therapies about um repurpose drugs like opportunities for repurposing by starting to really understand and P pull data um uh and make predictions on you know diseases that may have common Pathways and things like that I think one of the near-term opportunities that I'm really excited about is really addressing the diagnostic Odyssey that I referenced early or it's astounding to me that on average it's still taking us six years um for a rare disease patient to to achieve to receive a diagnosis and that's because doctors can't necessarily know about how how many did I say more than 7,000 yeah more than 7,000 diseases right that's right so you go to medical school for four years there's no way you're going to learn about 10,000 diseases and even if you're a specialist in a particular field you're still not going to know about all the rare diseases and the chances that you're going to come across more than say one patient with a really obscure rare disease in the course of your um you know work as as treating patients is is really unlikely but this is where you know AI large language models can really step in you can actually start to amass not just the knowledge of that one expert but the knowledge of all experts across like a you know a long period of time put symptoms in a database right and then have right that's right and you could sort of run case reports of of of individuals that have undiagnosed diseases or where you don't know what's going on against these these large databases that could actually start pulling out some of these terms and predicting oh this person may have this disease this disease and really ranking in priority now they're not going to necessarily these models aren't going to necessarily solve everything but in conjunction with experts um working together with experts and ideally groups of experts from different disciplines now you might actually be able to start some uh to solve some of these diagnosed Cas I imagine some of these rare diseases have common characteristics you know and they're right they're looking and they can look at at them in different subsets MK you were diagnosed with something called limb girdle muscular distrophy or lgmd and similar to Nasha you wanted to learn more about your disease tell us about your diagnosis your and and what about your patient experience that drove you to become a certified expert yeah sure so so my journey is very similar to Nara and her family and and that journey is very similar amongst all red disease patients uh with trying to find out what is wrong so as a young adol I realized that I had muscle weakness and fatigue and things that were very easy to do were now becoming very hard to do so day-to-day things so like everyone in this journey I would go from Doctor to doctor to seek answers like what is wrong with me and they'd go through a battery of test and first of all I got a diagnosis a clinical diagnosis so it's a a more high level diagnosis that I had some rare form of muscle disease but what I really wanted was a genetic diagnosis so what what was defective in me that was causing this disease and that took over 10 years to actually receive and this is where the the disappointment started or maybe a a difference in expectations so when I got the genetic diagnosis I thought well this is the start of a journey of getting treatment etc etc but then I realized that it wasn't that and my neurologist said that you have this disease a rare form of lodom muscular distopy it's caused by this Gene and the there is no treatment out there and the best you can do is look after yourself drink a lot of water and live a nice life and and that involved coming to see them drink a lot of water yeah I know it's kind of random yeah I think of something else I'd be drinking so and with that just come and see them once or twice a year and they were jot down and pretty much told me something that was obvious that my muscles were getting weak and for me this was very disappointing to hear and so so one thing I haven't shared publicly a lot is that I'm kind of obsessed when things are broken I need to know why it's broken and how to fix it and in this case my body was broken and I wanted to know how to fix it so there were three areas that I really wanted to concentrate on and it required me to become a certified expert and the first was um why did it take so long to get a genetic diagnosis and how can we accelerate that because as everyone has explain it it is such a long journey the second is um are there treatments out there because I wasn't going to accept that there were no treatments out there and the third thing is if they weren't then how do we go about developing it you're doing research at Yale and and I'm curious how your experience as a patient and a researcher has has driven you and I'm sure your fellow scientists and secondarily mle how be how being an Australian Asian man we had originally said Asian and Mona was like everyone's going to be so confused because my Australian accent but but how your ethnicity is actually affected how you're approaching your research yeah and that's a good question so the first of all I'll break it down into the two parts but the first part being a patient um so being patient so when um when I finished my PhD uh in Sydney Australia where I grew up um I took a few uh a few weeks later I packed up everything and my wife and I went to Boston and what I wanted to work on was some of the Cutting Edge technologies that were available at both the broad Institute and the Massachusetts General Hospital where I worked and and we did some amazing work there in trying to get to genetic diagnosis fast as by building resources and tools to actually do that but the patient in me was thinking yes we can get the genetic diagnosis faster but am I just delivering bad news faster to patients as I explained in the first response because it that is not the end of the journey that's the start of the next journey and the reason why I wanted to start a research lab at Yale is I wanted to work on the other part of the patient journey and that's understanding why does this Gene cause this particular disease and how can we design genetic therapies to actually address that cause so um so that's how it's changed my perspective in terms of that that sense of urgency and also that focus on the whole patient journey and not to be detoured by curiosity sometimes it is a massive detour sometimes and the second part being Asian so one thing you realize when you're in biomedical research is how bias it is a lot of research participants are uh of European ancestry and therefore a lot of our knowledge and biomedical research is based on European ancestry and mostly male European yes yes um and so so and this impacted me personally why my uh why it took so long to find a genic diagnosis for me in over 10 years is when they first reported my rare form limb girdle was rare um it was only rare in Europeans but most people because of the implicit bias just concluded it was rare in general and therefore if you look at the gene the mutation in my disease you'll find that it's actually quite common in East Asians and South Asians and I'm with Asian ancestry and it would have rapidly reduced that Journey having that extra information on Ancestry and the way that's impacted my research is that uh one of it's motivated me to work on a project that's funded by CCI to work with a community based organization called the Asian Health Coalition and we're working on trying to educate the Asian American community on the importance of genetics plays in terms of um muscle development in terms and its impact on aging and also response to exercise and also disease and not just the education but to build a a a collaborative Network so um so that there are ways that they can donate their muscle tissues it is a G due to the pain and discomfort but they can uh they can donate and it's important because I think we're going through this genetic revolution in how we can use genetics to actually improve health outcomes and that's in terms of disease susceptibility disease progression and also how to live a a healthier a healthier and longer life and I don't want my fellow asian-americans or Asian Australians to actually miss out on the this Revolution and and so for it to have impact on the whole diversity of the US population that we have and that's how it's sort of like that's amazing imped that so important I just I want to clarify did you get your PhD mle after your diagnosis how old were you when you were diagnosed I I was around uh 25 years old so it's been a long journey you're not that old but but that what were you going to do if you hadn't gotten a PhD in your particular area of expertise um it's not very inspiring my life would have been playing computer games every night maybe streaming on Twitch and you know and this has dramatically changed what I wanted to do in life I didn't have much ambition as a 20 year old well thank you for for getting a PhD and focusing on this because so many people are going to benefit from your area of expertise now I'm curious um for all of you how has czi and rare as one propelled your work and where would you be without it and I I'm not blowing smoke up Tanya's ass but I I do think it's really important because I think when you have these rare diseases you feel like you're out there alone and that that nobody knows your experience and you know even with cancer and my husband I felt very alone despite the fact that one in two men and one in three women and will be diagnosed with cancer in their lifetimes it's a very harrowing Journey so I'm curious if you could talk about the different CZ rare as one has made in your work and Jennifer why don't you start so czi has completely transformed what the next Society is able to do um before czi came to support and help our organization it was myself someone who I had met who had lost her daughter and my mom trying to do everything all at once we had absolutely no infrastructure no long-term funding sustainability there was nothing and I will also say that I was not interested in doing the fundraising because I wanted to do the work to advance the research I wanted to be at the table helping to propel the mission forward and and fundraising to me felt like um it was sidetracking and it was slowing me down from doing the work and so czi came and the rares one network and it has allowed us to have a professionalized staff now we have actual employees who are paid and um infrastructure we have long-term sustainability and so we're actually have now the capacity to really see our vision through to a world without neck um and so it's completely transformed what's possible for our babies and our families and our community Nota what about you yeah you know as I mentioned there is nowhere to go and apply for a grant if you have a rare disease and so an tanyaa started czi the entire rare Community was like finally they're somewhere and they're not small grants right they're they actually make a big difference um for me I really wanted to make an impact around the digital natural history study and I felt like that was important to all rare diseases when I joined citizen the company was focused in breast cancer which made a lot of sense it's a big market and they weren't really willing to take that risk to start a rare platform until I got czi involved and we got a grant and we were able to use Fox G1 as the guinea pig and I also brought in a couple other um foundations and we started that pilot project and it was still a pilot project let's see what happens and it was so successful and we had so many patients join and we had amazing research and it drove actual Pharma companies to start working on the diseases that had transformed the company um so none of that would have been possible honestly without the CCI Grant and M what about you I mean how has it sort of turbocharged your work yeah so it's allowed me to work with um patient foundations um and a lot of these punish foundations um fund a lot of my lab and in the way that it's accelerated the research it's allowed us to do what we do best and that's research we're horrible fundraisers as because we're not trained to be fundraisers um and and the great thing about working with patient foundations are that they're laser focused um they're laser focused they don't detour they have only one plan and then that's to advance their disease knowledge in their disease and also treatment so so one good example is uh we have a good fortune of working with us uh with a patient foundation called cure rare disease and they kind of summarize um sort of like the the mindset of patient foundations where patients are now uh not satisfied to sit on the sideline anymore and making and watching someone else try and solve their problems they want to drive the solution the research and not just fund the research but also create the collaborative networks with Academia with industry and also with regulatory because it takes a village to actually develop these treatments and so it's great to work with foundations that uh uh that have that mindset not just provide the funding but also provide all the other resources that you need to get there the patient advocacy movement is just amazing I mean the fact that so many people are getting involved in not sitting on the sidelines and ushering ushering in not only where Ness but obviously more scientific research I mentioned early on that there are probably a lot of Vin diagrams not uh not only in the sort of the biological Genesis of some of these diseases but also the approach you're taking to do your work so what have you all learned from each other and other rare dise because you all how many rare diseases do you do you fund Tanya wow so we funded a network of 50 organizations that are all that's so Jen is part of that Network her organization that are all working these were fairly early stage organizations both of them had no paid staff Etc and we're funding them and helping them to build their scientific and organizational capacity so that's our rare as one network but we're also funding additional groups like nasha's project to sort of fund patient partner research projects um tool development in partnership with patient communities the whole idea is patients should really be at the center of this and really helping to drive it so all in all we funded about I would say 85 patient organizations across the whole program where 50 of them are within our rares one network and then another 35 grants that have gone to impart to Patient communities um uh so that's about the far that's a sizable amount of uh cabbage if you know what I'm saying how and we just closed I should say we just closed our third round the the rares one network is actually a competitive grants program where patient communities applied to become part of the network we just closed our third round and we'll be funding I hope up to another 30 groups to join the network so we'll soon have um over 100 groups that we funded that's an amazing commitment is it tacky for me to ask how much money you've spent on this so we've spent um um almost uh just over $95 million to date amazing that's amazing yeah um I got I got diverted on the money stuff but tell me what you all have learned from each other quickly so I would say um being part of the rares one network has allowed us to figure out together how to build our infrastructure and our capacity it's not so sexy but it's really fundamental to being able to exist longterm and not burn out and continue to serve our community Advance the research and then we've also built and modeled like our research roundtables off of each other it's a closed space where researchers and family advocates can come together to in a safe space to advance the research so really fundamental learning yeah what about you Nasha what have you learned from these other groups you know I first of all the groups there's just a lot of support I don't know what I would do without my other patient leader you know Advocates that are in the same boat as me doing the same stuff um I've learned a lot from groups that are further along that have actually found cures for their diseases how they've managed to do that how they've managed to raise the funds how they've you know worked with different scientists and researchers the mistakes they've made that has been just I I don't know what I would do without other people that have gone through this that I've been able to learn from to figure out how do we do it and even now you know what we've done in seven years looking back I feel we could have done it in four and so now we're trying to help other groups not make the mistakes that we made and so that that's the idea and Mel I know there are a whole panoply of neurod degenerative diseases you know last year I was here interviewing Brian wallik and his wife Sandra abraa who and Brian has Al L and they've done extraordinary work but often times when you have these patient advocacy groups they're sort of Silo they're kind of competitive honestly you know I know that from my colon cancer advocacy work and it's really hard to pull your brain power and even resources and efforts so tell me what you've learned from other groups and how you're breaking down some of those walls well um uh well first of all what I learned from other group group is what a bunch of amazing people they are when I went to the first rares one conference um I'm used to scientist sprinting to the lunch line to get to the lunch food and these people are so amazing these green tees they were fighting over who got to help me sort out my lunch and that's what a bunch of amazing people the green teas are and in terms of breaking down the silos it's probably trying to find common themes um you know as an advisor coming to the means common common themes common challenges as they have touched upon and and then making sure everyone knows that we all have the same end goal and so talking about different ways we can data share and another thing that I think breaks down walls a lot is are funding the next generation of scientists because because they're not so set in their ways and and it's funding the the new generation because the scientists that made the discovery of the disease they're normally in the retirement years and just to remind people that we should be funding the next generation of scientists sorry I have to say that as a scientist a younger scientist to put in the Pug for the next generation of scientists it makes total sense and and it creates greater engagement and the next generation of scientists grew up in the information age so they know the value of information sharing and and Tanya what have you learned from this work I mean I do these panels and I'm Blown Away by all of you last year this year everyone who is a part of this community it's so inspiring to me so tell me about your experiences working with with people like this on a daily basis yeah I mean this has been a privilege of my lifetime I mean I I don't I mean I actually came into the r the rare disease space after working for 25 years in science policy I had worked across the gamut with with Advocates from all different sectors and areas you environmental activists and AD Advocates and um social justice folks and Criminal Justice Reform people and I love people who work in advocacy um but there's something really special about these Advocates and I think part of it has to do with the fact that nobody chooses to be a rare disease Advocate this is something that come that happens to them or to their loved one and those who decide that they're not going to take that that answer that you just heard they they were all told there's nothing you can do go home and love love your person or live your life or drink L of water or max out your credit card and that's play lots of video games yeah right and those who say no way like I am going to dedicate whatever time I've got or whatever energy I have and I'm going to figure out how to solve this disease those are really special people and I was particularly moved by I think it was Martha you know who said in the video it may not be for Cal but we are going to help Propel scientific breakthroughs for other people and that is such a selfless act I think you know to be able to say it it may not it may not help me but it's going to help somebody else yeah is there anything in closing CU we're we're almost out of time that this room and all their friends and networks can do to help either with what you're doing raise awareness so they can pay it forward as a result of your work what would you tell everyone here Tanya well I think the last thing I've learned is that you know there's that line in the film where Tracy says um my money's on the patience and you know we built a program five years ago that was sort of a pilot program RAR one project started out as like well we're going to Pilot this and see what happens where we made a bet on patients and I would say that that bet is paying off in Spades like we are seeing extraordinary results in our rare as one network for example 50 groups working for four years these groups have have actually engaged more than 6,000 researchers and clinicians from around the world in their networks they've launched more than 200 research projects we've got 17 clinical trials none of that there is no way none of that would have happened without the tenacity of these paatti leaders so my message would be you know we're doing this work we know that this works this is a different model for research it's patient driven research and my message would be like we need more people to understand the value and the contributions of these communities we need more funders in this space CC hike there we cannot do this on our own and we are really looking for others to partner with other stakeholders and to the extent that all of you can raise awareness about this extraordinary work that these folks are doing and how important it is to really Center patients in our Health Care system and that includes in our biomedical research system and that we need more folks understanding the value and contributions of these communities if we're going to to do this incredible work of curing and managing and preventing um these really really challenging diseases and there's a place to go if anyone you know has someone in their family or their friend group that has experienced something like this that this this place exists Jennifer what would you say I would say where um a disease does not feel rare when it happens to you um I definitely never thought that my son was going to die from a rare disease and so I would say there was uh no one who is more compelled to do this work than we are we are Relentless and we will not stop until we have cured or prevented the disease that we're working on yeah I I would second that and and to Tanya's point unfortunately all comes down to accessing funds and right now funders tend to give money to large academic medical centers both federally state level and even large donors and I would say we do need a different funding model we need to start funding patient entrepreneurs who are actually proving that they're driving cures not just research papers we don't care about research papers we care about actual medicine going into a human body and creating change and that's what we need is we need an entire movement and awareness around that MCO I totally agree with ner um being a researcher um I just want to add to that um yes yes I totally agree uh my my uh mainly being a patient it it it it brings meaning to you know um we've cured the mouse many many times we cured that same Mouse many many times it's it's about time we start translating it but what I would like the audience to take from this from my point of view is do Advocate to local senators and government mainly that you know I go a lot of charity events and sometimes I think um I I watch uh moms dads uh families friends sell cupcakes do fun runs and you know it's not sustainable and we need help uh and I think the biggest help would be from government and we're an individuals so because you can't necessarily count on the government right even with cancer only one out of 10 PR ing research proposals gets funded by the NCI so I think you have to figure out other methods as well so I want to make sure I leave people if they want to learn more where do they go rares one.org rares one.org and I for one I'm going to post that that beautiful film that was so moving on my social media channels and if anybody else wants to do that can they do that as well and do you have a petition or anything on your website CU that would be a good idea too don't you think not yet but that's a great idea just just throwing it out there um anyway we're exactly on time I can't believe it I always go over just ask my colleagues at the Today Show so thank you all Tanya Jennifer NASA mle thank you for all you're doing and thank you for being a part of this [Music] [Applause] today

Channel: Katie Couric

Views: 4,059

Keywords: Katie Couric, Katie, Celebrity, Entertainment

Id: t7ZcZSaVnQM

Length: 46min 24sec (2784 seconds)

Published: Fri Apr 05 2024