Speaker 1: What if we told you it was possible to prevent, manage,
Speaker 1: or cure all disease by the end of the century. Well,
Speaker 1: the chand Zuckerberg Initiative is on an ambitious mission to
Speaker 1: make that a reality. Go to CZI dot com or
Speaker 1: follow them on social media to learn more about how
Speaker 1: they're building a better future for everyone.
Speaker 2: Hi.
Speaker 1: Everyone, I'm Kitty Kuric, and this is next question. Approximately
Speaker 1: ten thousand rare diseases affect as many as four hundred
Speaker 1: million people around the world, and women leaders have been
Speaker 1: truly at the forefront of bringing awareness and driving change. Today,
Speaker 1: we have a privilege, the privilege to talk with four
Speaker 1: of these women about the unique challenges in rare diseases
Speaker 1: and patient advocacy and research and how they're resilt alliance
Speaker 1: and ingenuity has really moved the needle toward treatments and cures.
Speaker 1: I'm always excited to be here with my friend Tanya Simachelli. Tanya,
Speaker 1: we've been here. This is our third year at the
Speaker 1: She Media Tent, so she may be a film familiar
Speaker 1: face to some of you. Tanya joined CZI the Chan
Speaker 1: Zuckerberg Initiative in twenty seventeen and launched rare as one
Speaker 1: two years later. Prior to that, she has over twenty
Speaker 1: eight years of experience in science, policy and advocacy. Meanwhile,
Speaker 1: I'm not doing this in order necessarily. Tara Zier, who
Speaker 1: is at the end there, is the founder and president
Speaker 1: of the Stiff Person Syndrome Research Foundation. Tara was diagnosed
Speaker 1: with Stiff Person syndrome in twenty seventeen, so she's here
Speaker 1: to talk about her experience as both a patient and
Speaker 1: an advocate. Doctor Christina Miyaki is next to Tara. She's
Speaker 1: the director of the Genetics Arrhythmia Program, an Associate professor
Speaker 1: at the Baylor College of Medicine, and collaborates with patient
Speaker 1: organizations to study these conditions and help search for treatments
Speaker 1: and cures. She knows firsthand the value of patient centered research.
Speaker 1: And finally, Susan Dando, the executive director of the Smith
Speaker 1: Kingsmore Syndrome Foundation. She joined the foundation in twenty twenty two,
Speaker 1: shortly after her daughter was diagnosed with this disease. Nothing
Speaker 1: excites me more than talking to really smart, kick ass women.
Speaker 1: So needlanden to say, I am in hog Heaven right now.
Speaker 2: Give them around of applause.
Speaker 1: It's a real privilege to be here with all of you,
Speaker 1: and Tanya, let me start with you. I am always
Speaker 1: struck by this statistic that there are over ten thousand
Speaker 1: rare diseases impacting four hundred million people across the globe.
Speaker 1: Tell us a little bit about why you created the
Speaker 1: rare as one and how it supports patient communities and
Speaker 1: accelerates why do I feel like I'm kind of looking backwards,
Speaker 1: I don't know or yeah shares no, I'm good, Now
Speaker 1: you're good, and how it supports these communities and accelerates research.
Speaker 3: Thanks so much, Katie, it's so great to be here
Speaker 3: with you again and with this amazing panel. So I
Speaker 3: think really three things that really inspired the rare As
Speaker 3: one project. The first is just the extraordinary unmet need
Speaker 3: in the space, as you mentioned the four hundred million
Speaker 3: people who are impacted around the globe, but also the
Speaker 3: fact that there are fewer than fewer than five percent
Speaker 3: of these diseases have any FDA approved therapies, so there's
Speaker 3: just an unbelievable gap there. Secondly, while these diseases are
Speaker 3: really understudied, they're incredibly important scientifically, so you know, the
Speaker 3: vast majority of these diseases are actually caused by genetic
Speaker 3: changes in single genes and as opposed to common conditions
Speaker 3: that are often caused by tens, if not hundreds, of
Speaker 3: different genes interacting with one another.
Speaker 2: So when you study these rare.
Speaker 3: Monogenetic diseases, you have this incredible window into human biology,
Speaker 3: and if we can understand the function of these genes
Speaker 3: and what's actually happening in people with these diseases, it
Speaker 3: can often leads to insights into how we can also
Speaker 3: treat common diseases, so they're really really important. And then
Speaker 3: the third reason is actually really about sort of the
Speaker 3: evolution of patient advocacy. So in the last twenty years,
Speaker 3: we've seen this incredible proliferation of patient led rare disease
Speaker 3: organizations like some of the ones that you just saw
Speaker 3: in the film, who are really going beyond sort of
Speaker 3: the more traditional advocacy work of disease awareness and just
Speaker 3: raising general funds for their disease and actually driving the
Speaker 3: research forward, like NASA Fitter says in the video. And
Speaker 3: they're doing this by building really strong communities but then
Speaker 3: really actively engaging researchers and clinicians in their disease areas
Speaker 3: and actually going about the work of building you know,
Speaker 3: clinical registries and biobanks and all these assets that are
Speaker 3: needed to study their diseases. They're recognizing that no one
Speaker 3: is going to do that for them. The incentives aren't there, right,
Speaker 3: And so so that's really the third reason that there's
Speaker 3: been this like extraordinary growth of these organizations. Some of
Speaker 3: them are kicking ass, yeah, and doing this incredible work,
Speaker 3: but there are no there were no major funders in
Speaker 3: this space that were providing consistent sources and resources to
Speaker 3: these organizations. And so I really said, you know, we
Speaker 3: need to build a program that really supports these organizations
Speaker 3: in this work if we're serious about, you know, our mission,
Speaker 3: which is to cure, prevenor manage all diseases.
Speaker 1: Yeah, and I feel like nobody is more passionate and
Speaker 1: committed and driven than someone who has firsthand experience with
Speaker 1: the disease. I know I felt that way when my
Speaker 1: husband died of colon cancer. I felt like I have
Speaker 1: got to do something about it. And then people with
Speaker 1: living disease, living with disease, you know, they are so
Speaker 1: highly motivated and Tara, and you know, I wanted to
Speaker 1: ask you about stiff person syndrome because it's a rare
Speaker 1: autoimmune neurological disorder that affects only four to five people
Speaker 1: in a million. And now you run the Stiff Person
Speaker 1: Syndrome Research Foundation. Tell us a little bit about your story,
Speaker 1: because when I read it Tara, I thought, oh my god,
Speaker 1: this woman has been through hell and she's still standing
Speaker 1: and she's still fighting and doing something about it.
Speaker 4: Sure, Katie, First, thanks for having me. I'm so excited
Speaker 4: to be here. I really appreciate the opportunity, and I'm
Speaker 4: happy to share about stiff person syndrome. I want to
Speaker 4: speak to the name. The name does not do this
Speaker 4: disease justice. It's disabled. People can have muscle spasms so
Speaker 4: severe they break bones, dislocate joints, and result in life
Speaker 4: threatening breathing problems.
Speaker 2: People are just stiff.
Speaker 4: So it's a little bit tough to people understand.
Speaker 2: Well, we thought about that in the beginning.
Speaker 4: Do we try to change the name or do we
Speaker 4: just go after your better treatments? And I thought it
Speaker 4: would be best to just go after better treatments.
Speaker 2: Yeah.
Speaker 4: So, my gosh, I had a very agonizing diagnostic odyssey,
Speaker 4: which is not uncommon with rare diseases. Unfortunately, it took
Speaker 4: me almost three years to get diagnosed. In twenty fourteen,
Speaker 4: my former husband died by suicide.
Speaker 2: My kids were eleven and thirteen.
Speaker 4: At the time, and the stress and pressure I felt
Speaker 4: to stay alive was unimaginable.
Speaker 2: Two months later.
Speaker 4: I was hospitalized with pneumonia, and then my health spiraled down,
Speaker 4: and over three years I was experiencing really oddball frightening symptoms.
Speaker 4: I was going from doctor to doctor in crisis mode,
Speaker 4: knowing something was seriously wrong and trying to find answers.
Speaker 4: I was mismanaged, mislabeled, told it was all in my head.
Speaker 4: At one appointment with my primary care doctor, he told
Speaker 4: me kind of leaned into me and he said, I
Speaker 4: don't know why you're going from doctor to doctor. Take
Speaker 4: this medication for anxiety and see me back in three months.
Speaker 2: And like, I'm.
Speaker 4: Professional, but I'm also not going to put up with that.
Speaker 4: And I said, you know, I appreciate that, but if
Speaker 4: you were in my shoes, you would be doing the
Speaker 4: same thing.
Speaker 1: And another doctor said, this is stress, and you said, yes,
Speaker 1: I'm stressed, but I'm also sick.
Speaker 2: Absolutely absolutely.
Speaker 4: It got to the point in twenty seventeen, in March
Speaker 4: I lost thirty in a month. Every day I was
Speaker 4: standing on the scale and I was dropping. I was dropping.
Speaker 4: I was dropping. I thought I was going to die.
Speaker 4: I couldn't work. I was a dentist. I couldn't work anymore.
Speaker 4: I couldn't drive, I couldn't take care of myself. I
Speaker 4: couldn't take care of my kids. I had to hire
Speaker 4: someone to live with us.
Speaker 1: And so hard for your kids, I know, because they
Speaker 1: had just lost their dad.
Speaker 4: And I couldn't control it, and that seeing them so
Speaker 4: stressed and not having control over that was horrible. And
Speaker 4: I finally connected to the right doctors. I found a
Speaker 4: wonderful primary care doctor who listened to me, who dismissed
Speaker 4: the labels and referred me to a local neurologist where
Speaker 4: I was diagnosed. He read the right tests, and I
Speaker 4: landed at Johns Hopkins for my treatment. And it was
Speaker 4: probably my third visit at Hopkins when my neurologists told
Speaker 4: me that they had recently applied for a grant for
Speaker 4: research at NIH and they were denied the grant because
Speaker 4: there wasn't enough research to support.
Speaker 2: Getting the grant right and you know, chicken her egg
Speaker 2: right like, and that just blew my mind.
Speaker 4: I'm like, if Hopkins can't get a grant, that's a
Speaker 4: big problem.
Speaker 2: And you know, here I was.
Speaker 4: I remember just sitting there like sideways, you know, looking
Speaker 4: at him, and I was, you know, in debilitating pain,
Speaker 4: no good treatments, no cure, single mother. And it was
Speaker 4: that moment where I knew I needed to do something.
Speaker 2: And two weeks later we were on.
Speaker 4: The news raising awareness, and then I knew we needed
Speaker 4: to raise funds for research. So I started the Stiff
Speaker 4: Person Syndrome Research Foundation and the latter part of twenty
Speaker 4: nineteen with two main drivers, one to support research for
Speaker 4: better treatments and a cure, and two to show my
Speaker 4: children that no matter what hand your dealt in life,
Speaker 4: you can still make a difference for people. That's what
Speaker 4: gets me out in Dada.
Speaker 1: And of course Seline Dion, when I think that was
Speaker 1: well publicized, got the disease a lot of attention, which
Speaker 1: was probably helpful.
Speaker 4: Absolutely so grateful for her. That was like worldwide awareness
Speaker 4: in a.
Speaker 1: Day, rightly educated so many people very quickly. And Susan,
Speaker 1: your daughter Carmen was diagnosed with something called Smith Kingsmore
Speaker 1: syndrome or SKS when she was nine years old. Can
Speaker 1: you tell me how she about this disease and how
Speaker 1: she was ultimately diagnosed.
Speaker 5: Yes, so we also had a diagnostic odyssey. Carmen was
Speaker 5: diagnosed as autistic at four and had a lot of
Speaker 5: the things that are relatively common in autism. She doesn't
Speaker 5: speak very much. Most you to say, go away, mummy,
Speaker 5: no thanks mummy. She has a sort of motown's struggles
Speaker 5: to learn. But the big thing for us is that
Speaker 5: she doesn't sleep, and by not sleeping, it's like she
Speaker 5: really doesn't sleep. We would put her to bed at
Speaker 5: seven thirty, she'd get to sleep at ten thirty. She
Speaker 5: would wake up at one am and be awake, wake
Speaker 5: up the whole house, destroy things. The more we tried
Speaker 5: to get her to bed, the more violent she became.
Speaker 5: She would hurt herself and hurt us. She would pass
Speaker 5: out again at three am, wake up again at four
Speaker 5: thirty am, and it would start again.
Speaker 2: So this happened.
Speaker 5: We would talk to the doctors and say, this is
Speaker 5: what's happening in our house, and they would say, well,
Speaker 5: you know, it's fairly common for artistic kids to not
Speaker 5: sleep very much.
Speaker 2: Is she napping during the day? And I would say no,
Speaker 2: and they.
Speaker 5: Said, well, you know, if she's not napping, she's probably
Speaker 5: getting enough sleep. It's just part of who she is,
Speaker 5: and she'll be okay. And I'm like, we're not okay.
Speaker 5: I'm living with a living with a newborn, barely able
Speaker 5: to function. My two other daughters are going to school
Speaker 5: sleep deprived. But we really struggled to push back on
Speaker 5: doctors with that. We almost became so tired it wasn't
Speaker 5: worth the fight, but you know, we'd start reading. I
Speaker 5: finally pushed for full genetic testing and we were sitting
Speaker 5: with a genetic counselor and they said, well, she's actually
Speaker 5: got this rare genetic syndrome was by a mutation to
Speaker 5: the m tour gene called Smith Kingsmore syndrome. There's no treatments,
Speaker 5: no cure, there's really not nothing you can do.
Speaker 2: There is people, there's around three hundred and.
Speaker 5: Fifty people worldwide that we know of, but they're like,
Speaker 5: there is this foundation, the SKS Foundation. You probably should
Speaker 5: look them up and so and we'll see you in
Speaker 5: a year. So we went and looked them up, and
Speaker 5: then everything made sense. There are these people all over
Speaker 5: the world with sleep disorders, intellectual disability, limited communication and
Speaker 5: we found our people and we found some hope.
Speaker 1: When you hear these stories, Tanya, and how do you
Speaker 1: connect the rarest One Initiative with people like this who
Speaker 1: are desperate to try to find answers? And Christine, I'm
Speaker 1: going to talk about your side of this as a
Speaker 1: researcher and scientists, But what kind of infrastructure do you
Speaker 1: provide that gives people some hope, connection and then they
Speaker 1: can actually dream about the future? Yees.
Speaker 3: So the heart of our program is actually our rare
Speaker 3: is One network and to date we've actually funded nearly
Speaker 3: one hundred patient led organizations advising like Susan's in Paris,
Speaker 3: including Susan's and Terras, across multiple cycles, and we're not
Speaker 3: just providing them with funding, but we're also building out
Speaker 3: a whole capacity building program and helping them to build
Speaker 3: their organizational capacity as you just heard, like neither Tara
Speaker 3: nor Susan came to this by training right or on
Speaker 3: purpose right and also scientific capacity building really helping them
Speaker 3: do things like how do you build a scientific advisory
Speaker 3: board for your organization, how do you work with researchers,
Speaker 3: how do you work with industry to develop treatments like
Speaker 3: so all of that we've packaged, and actually I should
Speaker 3: point out Heidi and Andrew in the front row who
Speaker 3: actually run the Rares one network and all the capacity
Speaker 3: building for the program. And importantly we give them opportunities
Speaker 3: to collaborate with one another, and I.
Speaker 1: Mean it despite like maybe different diseases, but trying to
Speaker 1: strategize and navigate the system. So I imagine that that's
Speaker 1: been very helpful to you too, Susan and Terat, to
Speaker 1: just know each other and try to navigate things. And
Speaker 1: I imagine that rare is one for both of you
Speaker 1: and for so many of these people who are struggling.
Speaker 1: It's a godsend, isn't it.
Speaker 2: Absolutely it is a game changer.
Speaker 1: I wanted to ask Christina about her role because doctor Miaki,
Speaker 1: you're coming at this from a clinical research perspective, and
Speaker 1: doctor Miaki told me I could call her Christine. I'm
Speaker 1: not being disrespectful. Tell us about the research you're doing
Speaker 1: with something called Tango to deficiency disorder and what that is.
Speaker 6: Thanks so much, Katie. It's really an honor to be
Speaker 6: up here today with all of you. So I came
Speaker 6: to work with Tango too because I'm a pediatric genetic electrophysiologist,
Speaker 6: And that's just a fancy way of saying I'm a
Speaker 6: heart doctor and I work with families who have conditions
Speaker 6: that run in families that can lead to a cardiac
Speaker 6: arrest or set in death. And as a background, every year,
Speaker 6: approximately twenty three thousand children have a cardiac arrest and
Speaker 6: of those over ninety percent don't survive, and of those
Speaker 6: that survive, fifty percent don't get an answer. And so
Speaker 6: that's what I do. I've dedicated my career and my
Speaker 6: research to finding answers for these families and giving them
Speaker 6: that diagnosis. One of them is tango tooths and so
Speaker 6: working with these families, I've been able and through support
Speaker 6: with the CZI, it's allowed me to identify a treatment
Speaker 6: and you'll see some of the symptoms.
Speaker 1: Yeah, we have a video actually about tango iiO that
Speaker 1: we can watch and you can talk about at the
Speaker 1: same time.
Speaker 6: It's a rare disease that affects eight thousand and these
Speaker 6: are some of the symptoms. Balance falling over, severe with
Speaker 6: weakness and inability to get up, speech difficulties and cognitive delays,
Speaker 6: difficulty walking to the point it progresses till you're in
Speaker 6: a wheelchair and you can't speak. Two parents, Mike and
Speaker 6: Kasha More started the foundation and in twenty nineteen I
Speaker 6: began interviewing patients around the world and through this natural
Speaker 6: history study, I identified that B vitamins prevent cardiac arrest
Speaker 6: and some of the symptoms. So this is Phoebe. You
Speaker 6: can see some of the symptoms, but children were dying
Speaker 6: cardiac arrest and it had a high mortality rate. In
Speaker 6: twenty twenty three, Phoebe was finally diagnosed and started on
Speaker 6: B vitamins and you can see the difference within two weeks.
Speaker 6: So she is now walking, she's got she can talk better,
Speaker 6: she's got more energy, and she's a normal kid. And
Speaker 6: it is through the B vitamins.
Speaker 2: No child since has died.
Speaker 6: And it's through funding through foundations like CZI that allow
Speaker 6: us as physicians to work with organizations to find the
Speaker 6: answers that ultimately are going to help the patient.
Speaker 1: What if we told you it was possible to prevent, manage,
Speaker 1: your cure all disease by the end of the century.
Speaker 1: The Chans Zuckerberg Initiative is advancing biomedical research and leveraging
Speaker 1: AI to change medicine for decades to come. By bringing
Speaker 1: together science, tech, researchers, and engineers, they're building a better
Speaker 1: future for everyone. Learn more at CZI dot com that's
Speaker 1: CZI dot com or follow them on social media. How
Speaker 1: critical is it for you as a scientist to actually
Speaker 1: interface with the patient population, because I would think that
Speaker 1: would be a no brainer. I don't know how scientists
Speaker 1: did it without having that kind of exposure before.
Speaker 6: I think that's what we need to change, and I
Speaker 6: think that's what CZI is promoting and doing and funding.
Speaker 6: We can't do what we do without the patients, without
Speaker 6: these amazing mothers. They're so motivated to find answers. It's
Speaker 6: only through collaborative and partnerships that we're going to push
Speaker 6: rare disease discovery.
Speaker 1: It seems crazy to me, it's just be vitamins. Did
Speaker 1: you discover that, Christina? Yeah, I would say that's amazing
Speaker 1: by the way. I mean, it's something something so simple
Speaker 1: and accessible can be so life changing for those kids.
Speaker 6: And I think it's as simple as paying attention to
Speaker 6: the parents, listening to them, and then really taking that
Speaker 6: into the science to find those answers that it really
Speaker 6: starts at the patient.
Speaker 1: I'm just curious as women who are impacted by these diseases,
Speaker 1: both as patients and as caregivers, Can you describe the
Speaker 1: impact of these diagnoses on your lives and the disproportionate
Speaker 1: impact they have on mothers?
Speaker 2: Sure?
Speaker 6: I gosh.
Speaker 4: For me personally, I think, at least to now, the
Speaker 4: greatest impact was daring that diagnosse stick odyssey phase. I
Speaker 4: was in the er.
Speaker 2: I went to the er thirteen times, and.
Speaker 4: My kids were witnessing that, and that was brutal, Like
Speaker 4: I had to make a decision when I felt something
Speaker 4: life threatening, I felt those symptoms, Do I risk dying
Speaker 4: or do I traumatize my kids and call nine one wine?
Speaker 4: And it was to the point where after the seventh
Speaker 4: eighth time, I would call nine one Wine and I
Speaker 4: would say, listen, I know this sounds crazy, but can
Speaker 4: you not turn the sirens on when you come up
Speaker 4: to the house Because my son told me later, Mommy,
Speaker 4: every time I hear sirens, I feel really upset because
Speaker 4: I think they're coming for you.
Speaker 1: You also fit faced. I think TIRA the quintessential problem
Speaker 1: that so many women face in the medical system, which
Speaker 1: is relaxed or you know you're stress. Here's a pill
Speaker 1: for anxiety. It's all in your head. Don't be hysterical.
Speaker 1: And I think for many women, they're intimidated and embarrassed,
Speaker 1: and they're made to feel shame for fighting their doctors
Speaker 1: or being aggressive or going to another doctor. And so
Speaker 1: I think as a mother, obviously your kids were worried
Speaker 1: about you, but as just a woman, you faced a
Speaker 1: lot of discrimination in the healthcare system.
Speaker 4: Yeah, it's real, and people will tell you it's real.
Speaker 4: I sat on a plane beside a cardiologist and we
Speaker 4: happened to start talking and he's like, Tara, you know
Speaker 4: it's real.
Speaker 2: And I'm like, I know it's real.
Speaker 4: So you know, it's one of those things too, where
Speaker 4: I was on a call with an eer physician. It's like, well,
Speaker 4: how do you show up, you know, as a woman,
Speaker 4: and there's some you know, some bias there, and it's like, okay,
Speaker 4: well don't be super emotional, Okay, well be professional.
Speaker 2: It's like it's.
Speaker 4: Difficult, right because I show up and I could tell you, Katie,
Speaker 4: like I have a pain.
Speaker 2: Level of nine and I'm not crying, and.
Speaker 4: You know, it's really difficult to navigate. And I think
Speaker 4: the key is you just have to push, You have
Speaker 4: to do whatever it requires. I was showing up in
Speaker 4: doctor's appointments, without appointments, just showing up saying I need
Speaker 4: help because everything was on the line.
Speaker 2: They had just lost their dad.
Speaker 4: I'm like, I have to do and anything it requires,
Speaker 4: And so all that noise went out the window.
Speaker 1: Susan, what about you as a mom of and you
Speaker 1: said you have two other children. I do, and so
Speaker 1: I can only imagine how much pressure that is on
Speaker 1: you and your whole family, right.
Speaker 5: Yes, And I actually struggle a lot with the right
Speaker 5: thing to do personally because my first reaction to common
Speaker 5: being diagnosed I had just left a corporate job. I
Speaker 5: wish I could say that my revelation was I need
Speaker 5: to go and cure SKS, but it was actually, there's
Speaker 5: no treatment or cure. My baby's going to need care forever,
Speaker 5: and I don't know how long she's going to live.
Speaker 2: No one can tell me.
Speaker 5: So my first reaction was, actually, I need to get
Speaker 5: back to corporate and be as much money as I
Speaker 5: can so that so that there's money to take care
Speaker 5: of my baby after I die. And that sits on
Speaker 5: your chest all of the time through all of your work.
Speaker 5: But it was I met the founders of the foundation
Speaker 5: of the SKS Foundation, Kristen and Mike so Laser, focused
Speaker 5: on science, so full of hope. They've just got the
Speaker 5: CZI grant. They're like, we can do this, we can
Speaker 5: drive towards treatments and a cure, and so I jumped
Speaker 5: on board. But it is it's a struggle constantly because
Speaker 5: you're thinking about taking care of your baby for the
Speaker 5: next forty to fifty years, but also at the same time,
Speaker 5: how do we take care of all of the SKS
Speaker 5: and REP patients.
Speaker 1: We're talking about funding of rare diseases, and Christine, I'm
Speaker 1: wondering about you know, obviously there have been a lot
Speaker 1: of changes in Washington. I'll leave it at that. Follow
Speaker 1: me on Instagram, you'll hear a lot about it. But
Speaker 1: I'm curious, Christina, about these cuts in NIH funding. How
Speaker 1: you think they're going to impact rare diseases and help
Speaker 1: people solve the mystery of so many of these things.
Speaker 6: I mean, to be honest, the NAH has never put
Speaker 6: rare disease, unfortunately, as a priority, and so for those
Speaker 6: of us doing rare disease research, it's truly foundations like
Speaker 6: CZI that have really helped US, and I think we
Speaker 6: need to think about getting funding through other sources to
Speaker 6: help us and think out of the box. I think
Speaker 6: we need to work together and collaborate a partner, but
Speaker 6: we do need to find other sources. We can't just
Speaker 6: rely on the CCI.
Speaker 2: So it is.
Speaker 6: It is an unfortunate situation right now. But I'm hoping
Speaker 6: that we can think positively and spread the word just
Speaker 6: like you are doing about rear disease, so people can
Speaker 6: see how important it is to partner together in the
Speaker 6: future and not just rely on the NIH.
Speaker 1: Sometimes, Susan, though, you can come up with a grant
Speaker 1: and then it's such a laborious process. To you, all
Speaker 1: of people in the scientific community who might be in
Speaker 1: this audience knows how difficult it is to get funding
Speaker 1: and how it can take months even years, right.
Speaker 5: I mean, we had a game changing grant for the NIH,
Speaker 5: which took us years of developing relationships with researchers, convincing
Speaker 5: them to study SKS, funding through cake stalls, and asking
Speaker 5: for five ten twenty dollars donations to fund research in
Speaker 5: those labs, and we produced enough good data that they
Speaker 5: put together a great grant proposal for the NIH for
Speaker 5: two and a half million dollars, which is really small
Speaker 5: change for some diseases, but for us, with three hundred
Speaker 5: and fifty patients worldwide, that's a really big deal.
Speaker 1: And so I think, what is the most status of
Speaker 1: that funding.
Speaker 2: We don't know. It's in process.
Speaker 5: We hope that they will keep getting the remainder of
Speaker 5: their funding. They're halfway through, but it's very uncertain, which
Speaker 5: is really difficult for organizations. Now there are clinical trials
Speaker 5: on hold.
Speaker 2: There's research on hold.
Speaker 5: It makes us, it makes it harder for us to
Speaker 5: attract researchers in where the futures arenown and you know,
Speaker 5: we get help from NIH scientists just giving us advice,
Speaker 5: the best animal models to use, who else to collaborate with.
Speaker 5: So so it is we might be small, but we've
Speaker 5: had game changing support from them, and it's a difficult
Speaker 5: time for all of us now.
Speaker 1: The lack of respect for science is catastrophic in my opinion.
Speaker 1: That's just my little editorial comment. Tanya, I wanted to
Speaker 1: ask you, we're almost out of time about AI and Christina,
Speaker 1: please chime in. You know, AI is such an exciting development.
Speaker 1: I mean, I know there are perils to the technology,
Speaker 1: but when it comes to health and wellness and medicine.
Speaker 1: It is going to be such a game changer. How
Speaker 1: do you see AI playing into the rare disease arena.
Speaker 3: Yeah, it's actually a super exciting moment right now. I
Speaker 3: think AI has the potential to actually transform every aspect
Speaker 3: of rare disease, starting with diagnosis and that diagnognostic odyssey
Speaker 3: that you just heard about, through drug development, through and
Speaker 3: drug repurposing. That's something I'm super excited about.
Speaker 1: I get so excited about that too. Where what give
Speaker 1: an example of a drug repurposing.
Speaker 2: So you just.
Speaker 3: Saw David Fagenbaum on that video who talked about a
Speaker 3: drug that was sitting in his pharmacy all along that
Speaker 3: cured him, and David is now has now led the
Speaker 3: development of a nonprofit organization that's dedicated to finding every
Speaker 3: possible drug repurposing opportunity for every existing drugs. So there
Speaker 3: are three thousand about FDA approved drugs. Most of those
Speaker 3: have been approved for just one thing, and we know
Speaker 3: they can most likely be used for other things because
Speaker 3: biology is connected, right, Diseases are connected to one another.
Speaker 3: So that's just an example of something that we're actually
Speaker 3: investing in. We're actually funding this initiative, and so as
Speaker 3: an example of how it's actually you know, we're actually
Speaker 3: building a portfolio now of grants that really are about
Speaker 3: helping to bring about, you know, apply generative AI to
Speaker 3: rare disease.
Speaker 1: Yeah. And I know when my sister was sick with
Speaker 1: pancreatic cancer, part of her cocktail of medications included, weirdly,
Speaker 1: the lidamide, which caused so many deformities if you recall
Speaker 1: in the fifties. But there was a thought, I don't
Speaker 1: even know if it's still being used, that it would
Speaker 1: cut off the tumor's blood supply, just like in utero,
Speaker 1: some of these limbs weren't growing because the blood supply
Speaker 1: was cut off. So I think this is such a
Speaker 1: fascinating area of research. Christine, are you jazzed about AI?
Speaker 6: I can't even tell you. I think it is I
Speaker 6: absolute grade. It's going to be a game changer.
Speaker 2: We need to.
Speaker 6: Figure out how we're going to utilize this. The massive
Speaker 6: ability of AI to process enormous quantities of data and
Speaker 6: take that data and then provide information back to us.
Speaker 6: But we as humans will need to interpret it, right,
Speaker 6: So we can't just give the information. I think, and
Speaker 6: I agree with Tanya. Number one, I'll give you real
Speaker 6: life examples tango to or SKS. It's going to take
Speaker 6: that data from these patients, be able to process it
Speaker 6: and then go into the medical records and identify others
Speaker 6: so that people don't have this odyssey. Number two is
Speaker 6: once we make that diagnosis and we know the genetic
Speaker 6: defect SKS or tango too or stiff person syndrome, we
Speaker 6: don't know, oh how it does that in the body.
Speaker 6: This virtual cell AI has so much potential for AI
Speaker 6: to start looking for answers rather than us in the
Speaker 6: basic science lad boiling for years. And then third, I
Speaker 6: think it's going to be able to help us find
Speaker 6: treatments rather than me spending hours interviewing everybody. AI could
Speaker 6: potentially do that and identify B vitamins faster than me
Speaker 6: and find those cures and those repurposing of drugs. So
Speaker 6: it's an exciting time.
Speaker 1: I'm very excited about AI, at least in the medical space.
Speaker 1: I know, like AI guided colonoscopies, it's all about colon's
Speaker 1: You guys, I'm sorry, but it is calling Cancer Awareness
Speaker 1: Month and I just wanted to give a shout out
Speaker 1: if you're forty five or over, you need to get
Speaker 1: a screening. Ladies and gentlemen. Women are as diagnosed as
Speaker 1: often as men, and we're seeing a disturbing number of
Speaker 1: young people. I'll be talking about this tomorrow with the
Speaker 1: microbiome and gut health of young people being diagnosed with
Speaker 1: colorectal cancer. So if you're forty five or over or
Speaker 1: you know someone who is, please help them get screen
Speaker 1: Thank you.
Speaker 2: Okay, Lmura.
Speaker 1: Before we go, where do you think is the most
Speaker 1: exciting opportunity to advance rare diseases right now? Obviously there's
Speaker 1: some headwinds with government funding, headwinds with this lack of
Speaker 1: respect and appreciation for the credibility of science, which is
Speaker 1: so bizarre to me. But tell me what are you
Speaker 1: most excited about, Tara when you think about the future.
Speaker 4: Exactly what she said, So the AI, the potential there,
Speaker 4: the drug repurposing as well. I mean thinking that there's
Speaker 4: a drug sitting on a shelf right in front of
Speaker 4: you when you go and CBS that could give you
Speaker 4: quality of life. I think that's that's super exciting to
Speaker 4: be exploring that. So I applaud David Fagenbaum for doing
Speaker 4: what he's doing. And also, I'm going to state the
Speaker 4: obvious at least I think it's obvious investing like CZI
Speaker 4: has in patient advisory groups and understanding the value in
Speaker 4: these groups. And you know, people who are here are
Speaker 4: personally impacted by the disease. There's a level of commitment
Speaker 4: that's so incredibly high, and we're able to break down silos,
Speaker 4: We're able to bring together the best of the best
Speaker 4: to accelerate research, and we won't stop until we get
Speaker 4: a cure and are better.
Speaker 2: Yeah, better treatment.
Speaker 1: And Christina, do you think women are better at that
Speaker 1: than men? Hashtag just saying absolutely, Well, it seems like
Speaker 1: women are the people who are really stepping up in
Speaker 1: our current climate in general.
Speaker 2: Right, absolutely.
Speaker 6: I mean I think that as women, as mothers, we
Speaker 6: have compassion, the ability to listen when it's important, and
Speaker 6: the as females, your girlfriends, your friendships, the collaboration that's key.
Speaker 6: We put collaboration first before self promotion for the long
Speaker 6: term the gain, which is the patient outcomes. And I
Speaker 6: think for me, the most exciting thing about the future
Speaker 6: is you know, for me, I've found it a foundation
Speaker 6: and it's called I hop kids and it's going to
Speaker 6: help find answers. But this is the way it's going
Speaker 6: to do it, is to find more diseases that are
Speaker 6: causing sudden death and doing it together.
Speaker 1: When my husband was six, Susan I used to say,
Speaker 1: nothing is more motivating than fear and desperation when you
Speaker 1: see someone you love suffering, and my heart goes out
Speaker 1: to you because it must be so challenging every day
Speaker 1: to see your child suffering.
Speaker 5: You join this community, though, and there's a puff and
Speaker 5: it's not just hope. It's really strategic science, so drag
Speaker 5: purposing to just put numbers on it. I can't afford
Speaker 5: a clinical trial. It costs tens of millions of dollars
Speaker 5: to do clinical trials for a brand new drug. But
Speaker 5: I can raise one hundred thousand dollars a year to
Speaker 5: test drugs in fruit flies, the humble fruit fly.
Speaker 2: I can do that, and if.
Speaker 5: We see results in sleep, or in seizures or in
Speaker 5: violent behavior, we can transfer that to Gusto syndrome, to
Speaker 5: other disorders of sleep issues that have size issues. Because
Speaker 5: these are FDA approved drugs. So if we see some
Speaker 5: positive results and we have willing and active pediatricians and parents,
Speaker 5: there's no harm in trying vitamin B, right, So there's
Speaker 5: just so much strategic stuff we can do to Frankly,
Speaker 5: I spend all my life thinking about Carmen's disease, but
Speaker 5: I spend my time with these people thinking about like,
Speaker 5: how are we going to get these treatments done?
Speaker 1: And there's so much overlap I think in rare diseases
Speaker 1: because anyway, Tanya, But you know, if people want to
Speaker 1: learn more and you know, and and support what CZI
Speaker 1: is doing, support these communities, how can they do that?
Speaker 3: Well, you can go to rareswe dot org and learn
Speaker 3: more about our program and all the groups within our
Speaker 3: rares one network. You can, you know, I think part
Speaker 3: of this is just awareness understanding that rare diseases are
Speaker 3: not rare collectively, they're incredibly common. Probably everyone in this
Speaker 3: room knows somebody. You may not know that they have
Speaker 3: a rare disease, but they have a disease that probably
Speaker 3: is rare. I just want to say in terms of
Speaker 3: what I'm hopeful about, I mean, my BET's on the patients.
Speaker 3: Maybe that's obvious, but I just you know, we have
Speaker 3: seen extraordinary progress, and we've been running this program for
Speaker 3: five years like I said, we now have one hundred
Speaker 3: groups within our network.
Speaker 2: Our first cohort of thirty groups.
Speaker 3: There's a if you go to our website, you can
Speaker 3: find a report about those groups.
Speaker 2: Collectively, those thirty.
Speaker 3: Organizations engaged more than three thousand researchers and clinicians in
Speaker 3: their diseases, and they have actually supported more than three hundred.
Speaker 2: And fifty research studies.
Speaker 3: These studies would not be happening if these groups did
Speaker 3: not exist. The power is in these organizations to actually
Speaker 3: drive the research forward, and it won't happen without them,
Speaker 3: and so it is what gives me absolute hope and motivation.
Speaker 3: And the patient groups are important, not just because no
Speaker 3: one's more motivated. They're going to run through walls to
Speaker 3: find treatments for these diseases, there's no question, and that's
Speaker 3: incredibly motivating for researchers working with these organizations. But we
Speaker 3: have to also recognize they have you've just heard it
Speaker 3: on this panel. They have deep expertise and experience in
Speaker 3: their diseases and that is fueling the research. It's helping
Speaker 3: the researchers solve these diseases. And we have countless examples
Speaker 3: now researchers coming to us and sharing with us how
Speaker 3: working with these communities has actually transformed their research. In Christina,
Speaker 3: the case with Tengo Too is an example that it
Speaker 3: was patients observed that when their kids were on vitamins,
Speaker 3: they didn't seem to have these the worst effects of
Speaker 3: that disease, which got her to do the natural history
Speaker 3: study and try to sort of figure this out. So
Speaker 3: it's really about these partnerships between patients and researchers and clinicians.
Speaker 1: That is what gives me hope so well, and their
Speaker 1: joint expertise well and these are obviously smart cookies up here,
Speaker 1: by the way, Susan's a rhodeschalar. I'm always so impressed
Speaker 1: by that. Not that long ago anyway, Tara, Christina, Susan, Tanya,
Speaker 1: thank you so much for the work you're doing and
Speaker 1: we're holding you in our hearts as you continue to
Speaker 1: work and make progress towards better treatments and hopefully one
Speaker 1: day God willing a cure. Thank you, Thanks for listening everyone.
Speaker 1: If you have a question for me, a subject you
Speaker 1: want us to cover, or you want to share your
Speaker 1: thoughts about how you navigate this crazy world, reach out
Speaker 1: send me a DM on Instagram. I would love to
Speaker 1: hear from you. Next Question is a production of iHeartMedia
Speaker 1: and Katie Couric Media. The executive producers are Me, Katie Kuric,
Speaker 1: and Courtney Ltz. Our supervising producer is Ryan Martz, and
Speaker 1: our producers are Adriana Fazzio and Meredith Barnes. Julian Weller
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Speaker 1: told you it was possible to prevent, manage, your cure
Speaker 1: all disease by the end of the century. The Chans
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