CODED: Genetics
CODED is a podcast brought to you by Genetic Support Foundation and hosted by Katie Stoll, MS, CGC and Dr. Stephanie Meredith. We explore the most pressing issues at the intersection of genetics, healthcare policy, and bioethics. CODED will be of interest to healthcare professionals, policy makers, and anyone interested in understanding how advances in genetic medicine are reshaping healthcare delivery and society at large.
CODED: Genetics
Beyond Headlines: Down Syndrome and CRISPR
What happens when scientific discoveries collide with sensationalist headlines? When Japanese scientists published research showing they could remove the extra copy of chromosome 21 in isolated skin cells, media outlets quickly proclaimed: "Could Down syndrome be eliminated?" These dramatic claims not only misrepresented the actual science but sparked legitimate concern among people with Down syndrome and their families.
Dr. Nicole White, principal investigator for Down Syndrome Achieves, and Dr. Meredith, both mothers of people with Down syndrome, join us to unpack what's really happening with this CRISPR technology. The reality? While researchers removed the extra 21st chromosome from some cells in a lab setting, we're light-years away from "eliminating Down syndrome" - and that's not the goal most scientists are pursuing or that society would approve for the technology.
We dive deep into how CRISPR works, why isolated skin cells in petri dishes are dramatically different from living human beings, and the staggering technical challenges that make this technology far more limited than headlines suggest. What emerges is a more nuanced story about precision medicine that could potentially address specific health conditions associated with Down syndrome rather than attempting to "cure" a genetic difference that many people consider central to their identity.
The conversation raises profound questions about media responsibility, scientific ethics, and who gets to decide research priorities. As Dr. White explains, "Any of this needs to be done with input from the community, with that careful care and stepwise approach and acknowledging all of the risks and what didn't work." We explore how sensationalist reporting robs individuals with Down syndrome of the opportunity to evaluate research objectively and reinforces harmful stereotypes that devalue their lives.
Whether you're fascinated by genetic technology, concerned about disability rights, or simply want to understand how to read scientific news more critically, this episode offers valuable perspective on one of the most misunderstood genetic research stories of recent years. Join us as we separate hype from hope and explore what's truly possible - and ethical - in genetic research.
Genetic Support Foundation: https://geneticsupportfoundation.org/
Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/
Greetings and welcome to the Coded Podcast. I'm Katie Stoll, Executive Director at Genetic Support Foundation.
Speaker 2:And I'm Dr Stephanie Meredith, the Development Director of GSF and the Supervisor of our Lettercase National Center for Prenatal and Postnatal Resources. Just to highlight some of the things that have been going on at GSF the past little bit, we have had our Pronatalism and Disability Pride going on at GSF. The past little bit we have had our pronatalism and disability pride blogs that we published in the past couple of months. You can see them on our blog, bloggeneticsupportfoundationorg. And then also we have the National Society of Genetic Counselors annual meeting that's coming up November 6th to the 10th in Seattle, washington, which is home territory for us. Most of the GSF staff will be there for you to connect with us and we'll have a booth with all of our educational materials and the letter case resources. And we will also be hosting our GC's Got Talent event on November 8th. You can check out the events on our website if you want to register, which you should, and come join us for a fun night of sharing talents among genetic counselors. I personally have done, you know, impersonations of Vanilla Ice All kinds of interesting things happen at this event. We have a silent auction to benefit all the good work we do, light, appetizers and drinks and inspirational messages from our team and friends. This is an event for genetic counselors, by genetic counselors and, quite frankly, the most fun and uplifting event you could attend that evening. So join us and this is a lot of me kind of talking right now, but it won't be because we have a great guest.
Speaker 2:Today we're going to be talking about recent news stories with bold headlines that have come out the past month claiming could Down syndrome be eliminated? Scientists say cutting edge gene editing tool could cut out the extra chromosome. And another headline said Japanese scientists claim they could end Down syndrome. Now, people with Down syndrome are born with an extra copy of the 21st chromosome and that's usually associated with mild to moderate intellectual disabilities and some health issues for some people with Down syndrome, like heart defects, hearing loss, gastrointestinal issues, etc. They also have higher chances for leukemia and Alzheimer's disease. People with Down syndrome also, notably, are living longer the average life expectancy now is about 60, and they increasingly have better life outcomes and opportunities for employment, college and meaningful relationships. And these articles that have come out with those bold headlines were prompted by a study published by a team of Japanese scientists, who were able to remove that extra copy of the 21st chromosome in some isolated skin cells in a laboratory.
Speaker 2:While this was certainly a significant development in genetic technology, with some serious considerations, the way the media portrayed it suggested a much more profound capacity for this technology than is actually possible or probable capacity for this technology than is actually possible or probable. However, it disturbed you know a lot of our friends in the Down syndrome community who value themselves and their loved ones as they are, and it excited others about possibilities for treating health issues and cognitive delays that are sometimes associated with Down syndrome. So today we wanted to dive in and separate that hype from the true probable outcomes for this technology and also the ethical concerns we should still be thinking about. I should also say that I started learning a lot more about this topic a couple of years ago when writing the National Council on Disability Report on the perspectives of people with disabilities on prenatal technologies, including and this is a mouthful heritable human genome editing.
Speaker 2:So I'm really excited to introduce our guest on the podcast today, dr Nicole White. She's the principal investigator for Down Syndrome. Achieves DSA is a nonprofit organization focused on advancing research to improve the health and well-being of people with Down syndrome. They're working on supporting research initiatives, creating a biobank for researchers and advocating for better health care for people with Down syndrome. Dr White's also a field service assistant professor in the Division of Developmental Behavioral Pediatrics at Cincinnati Children's Hospital Medical Center. Her research focuses on improving health healthcare experiences for children and adults with disabilities, and she's also my friend and a fellow mom of a person with Down syndrome, so we are going to go ahead and ask her some fun questions and just participate in a great conversation, yeah.
Speaker 1:Nicole, thank you so much for joining us today.
Speaker 3:Thanks for having me, yeah.
Speaker 1:To start, would you share a little bit about your work with Down Syndrome Achieves and how it's important to the future of people with Down Syndrome?
Speaker 3:Yeah, so the work I do with Down Syndrome Achieves now as an investigator has been a nine-year journey, if you will. I originally started as just a parent sitting on an advisory board and eventually, over the years, got my PhD and was able to kind of take on and lead this work of developing a Down syndrome biobank where we can, in hopes, help to accelerate basic science research that helps to improve the outcomes of people with Down syndrome. One of the bigger focuses on this is because we really notice that there's a gap in basic science research to understand the co-occurring conditions, especially at the basic science level or the molecular and genetic level, so that we could really get behind how to develop better treatments and therapies.
Speaker 2:And I think you know you've really got that strong science background that, as compared to me, where I'm more of a public health person, and so what I was hoping you could do is explain in plain language how CRISPR technology works and also how it was applied in this particular study that came out of Japan.
Speaker 3:Yeah, so CRISPR technology has been kind of evolving and growing quite rapidly over the last decade. In fact, in 2020, two scientists were awarded the Nobel Prize in chemistry over this technology that was developed through CRISPR-Cas methods. But CRISPR-Cas is really a precision science tool when it comes to gene editing where we can actually, thanks to the human sequencing project done back in 2000, we can really identify specific sequences that we want to now target and identify that particular sequence and replace it with a different one. And Cas9 is really like a protein that cleaves that specific target in the genome that we want to replace a new sequence with, and it's just kind of like a needle and thread. It's the Cas9 proteins cutting and the CRISPR comes in and threads in the new sequence and it allows that replacement of the sequence to then potentially have different outcomes on behaviors, on the cell or the characteristics of a cell.
Speaker 2:Yeah, that's such a great analogy. I've also heard sometimes people use the zipper analogy that you know.
Speaker 3:Like a Ziploc sandwich bag, the little slider thing that goes back and forth.
Speaker 2:Yeah, and I think that that's really such that basic understanding of it. And then how was it applied in this particular study?
Speaker 3:So in this particular study they really identified a particular sequence on the 21st chromosome, more in particular in the third copy of the 21st chromosome, and were able to cleave the entire chromosome through that process so that when the cell replicated there was not three copies of the 21st chromosome present, there was just two. And this was done in a Petri dish, mind you, where they could actually monitor and gauge the replication of these cells.
Speaker 1:Reading through this original paper, I didn't see that there was a real focus on eliminating Down syndrome but really looking the possibility of therapeutic interventions related to trisomy 21. But still, you know, you see the headlines. What has the reaction been to this paper and the subsequent publications in communities of people with Down syndrome and their families?
Speaker 3:When I caught on to this paper is immediately through my social media feeds, I saw a lot of parents reacting almost pretty like oh my gosh, how dare these scientists cure Down syndrome? That's been a bit of the reactions that I've been seeing happening throughout the media. But then there's also you know, the stance of how media has just taken this paper, given it a new title, and the title really doesn't describe what the paper is actually about. And then parents, because they may not know much about science or read the actual paper, they've taken that information by just title reading and the conversation has just gone off the tracks quite a bit, where we really want to try to bring families back to center and be like look, yes, these scientists were able to remove the third copy of this chromosome.
Speaker 3:No, I don't think that we'll ever be able to cure Down syndrome because there's just so many cells in our body that if we were trying to do this when, after children are born or even as adults, there's too many somatic cells, you might still result with a mosaic cell person, because only part of the cells would be able to remove the chromosome, or things like that might happen.
Speaker 3:It might be just like nobody knows like what would happen, because it's never been done, so we're just theorizing here. But what we can use it for is in treating things at more of like a single organ level or a particular disease level, very similar to like what just happened a couple of months ago with the baby in the news KJ, I think the baby's name was where he had a very rare disease and they were able to use this gene editing tool to basically cure that baby from a very rare disease. And it's been in the news so you guys can go read about it later. But it's just that's the kind of level where I think that individuals down syndrome may be able to benefit, Like if we were also potentially able to find something for Alzheimer's. Because we study so much on Alzheimer's, Is there something about the protein in Alzheimer's that we can use CRISPR-Cas9 for to alleviate the symptoms or reduce the onset of Alzheimer's in people with Down syndrome?
Speaker 2:I don't know, stephanie, do you?
Speaker 3:have other ideas, like what reactions you've seen too.
Speaker 2:And I think I've seen a little bit of a mix, I would say, mostly parents being really concerned about the elimination of Down syndrome because they value their loved ones and they love them as they are, and also people who I know also with intellectual and developmental disabilities being worried about that as well.
Speaker 2:I think I've also seen some people who were excited about it and thought, well, maybe this can help treat some health issues or cognitive delays, but not really knowing how that might work and what that might look like. So I saw a bit of a combination there. But I think again, when you have headlines like that, it does really concern people for some very justified reasons, because they do encounter ableism, they do encounter people who are dismissive of people with Down syndrome, and so they think that that is a societal goal, societal goal. And so what I wanted to do also is to break down what really is not likely to happen, given the science, and what is more likely to happen, and for us to kind of talk about that. Now, you could not, like you have already said, strip the extra chromosome from living people with Down syndrome. That's like, I mean, this was cells in a lab, in a Petri dish. But to actually do that for a living human being, that's just not feasible.
Speaker 3:And let's keep in mind Petri dishes are very controlled environments. Humans do not live in controlled environments, so we have a lot of other factors that are around us.
Speaker 2:Exactly, and you know we could possibly in the very or I shouldn't say we other people not me could possibly in the very distant, or I shouldn't say we other people not me could possibly in the very distant future edit embryos, but this is also very unlikely for a number of reasons.
Speaker 2:If you look at the actual data in the study, only with one type of the treatments that they used, only about 13% were successful. One type of the treatments that they used, only about 13% were successful, and with the other treatment it was 57% were successful. So even in the lab with skin cells, it's a significant development to remove that chromosome, but it's still pretty shaky technology. And then you combine that with there was a study that was done in 2023 by Kubikova and her study team and I have to give credit here to Nancy Iannone, who alerted me to this study when it happened as I was driving to the National Council on Disability meeting in DC as I was having to give this report back then. But her study showed that only about 9% of embryos were successfully modified with CRISPR and that means 91% were modified incorrectly or die.
Speaker 3:Yeah, and this paper showed similar things to this Japanese team. They also acknowledge that, as these cells are replicating, other things were happening that they weren't expecting to happen. So, like I said, there's so many things that are to see it happening, even in a controlled environment of a petri dish, to take that to a more multicellular human level. We don't know.
Speaker 2:It'll be a long time for us to get there Right and those embryo cells in particular, if you were even to take them in a petri dish in that controlled environment, they were still very resistant to change and unstable when modified and they were very susceptible to off-target changes. And that's where the wrong DNA is modified and they also would end up sometimes being mosaic, where some cells change and others don't, and so you would have to throw away many, many fertilized embryos to potentially modify just one to remove that extra chromosome that causes Down syndrome, and that's just a huge ethical issue on so many fronts because you'd be discarding a. That could be done for those who are choosing to do that, and there are ethical issues with this too but with pre-implantation screening, and then you're not actually modifying a cell. Now there's a whole host of other issues with that that we're not going to get into today, but it just meaning that this is very unlikely.
Speaker 2:The other thing is that this type of germline gene editing, where you modify every cell in the body of an embryo, including their reproductive cells, is currently banned in most countries because it's such a risky technology and any change to the fetus is carried through in the human race forever because you're modifying again those sperm and egg cells and it's only been done once to public knowledge by a scientist named he Zhanghui in China, who was arrested and fined for illegal human experimentation on twin baby girls.
Speaker 2:But we do. I will say we just had an article come out this week about US companies that are campaigning to do this and Silicon Valley pronatalists who are championing that cause to be able to have this heritable human genome editing done in the US. So we do need to be very careful about our own policies here and for so many ethical reasons I'm going to personally say I think it should be banned indefinitely, because you can't ethically do that human experimentation, because you can't tell people, you can't get consent about the risk, because the risk is both unknown and unknowable for that without doing human experimentation. So I think the more likely use of this technology is what you were saying and is more promising, which is creating, you know, those organoids that could possibly be used for transplants and immune therapies, and so I wanted you to kind of dive into that. You know any comments you have about what I said, but also that more promising technology.
Speaker 3:Yeah, I mean definitely I could see us using this as more of a therapeutic level. I mean, there's so many different co-occurring conditions that people with Down syndrome have and also people without Down syndrome that have. Conditions that people with Down syndrome have and also people without Down syndrome that have that we could mutually support and treat and cure through this technology that's being developed through CRISPR-Cas9. So many of those examples are things like thyroid disease, cancers, tumor-based cancers, alzheimer's you know we can go on forever on the various lists Crohn's disease, allergies, you know, if you want to get more creative on some of these things too, but, like there's so much potential for looking at this from more of like a therapeutic level versus a curing down syndrome perspective, because I mean, I'll be honest, like people with down syndrome are leaving longer, more like like valuable, longer lives and healthy, and they're more included and they're independent and they're thriving and so so, if we can. Just, you know we won't be able to cure Down syndrome, but maybe we can find more therapeutic interventions that will help them to live healthier lives less visits to the hospital, you know, less medications that are needed, those kinds of things.
Speaker 3:That's definitely where CRISPR-Cas9 can come into play here. But even with those things, there's so much work to be done and science is not cheap. Science is expensive, and so getting something from like a bench, like inside a Petri dish, to a bedside can take decades and billions of dollars, and this is where we also need a lot of support and just advocating and supporting funding to continue research and invest in evaluating how these things are occurring and how we can better treat things. So, yeah, there's just so much more therapeutic intervention that we could use this tool for than just looking at it as a thing that's going to cure Down syndrome.
Speaker 2:Well, and I think, too on that ethics front you know I worked for the Center for Dignity and Healthcare for People with Disabilities from 2019 to 2022 on some of their work, and one of our areas that we were trying to address for discrimination that people with disabilities face is in transplants and being able to be approved for those, and so perhaps, for example, if this technology led to the development of organoids where you could have, you know, develop a heart for someone who needed it, for example, then that could be a way to create one that actually came from that person's own genetic material but is missing some of the components that was problematic for them for survival, and so that was another kind of instance where I was like to me, that would be an ethical use of that technology and, in some ways, increased access. That, to me, is one that would feel like a win.
Speaker 1:Can I get your perspective too on the paper and just the technology, this idea of trying to eliminate a third chromosome, which actually, from my read of the paper, didn't seem super successful. They were using these double-stranded breaks to try to cause the removal of a third chromosome but ultimately in many cases that chromosome didn't go away, it was just damaged and maintained in the cell with new errors that were introduced through the technology that was trying to, I guess, break it to the point where it would be eliminated. I just wonder, like with therapeutic interventions, it seems to me that, like getting more precise around the specific mechanism that's causing the concern, like Alzheimer's or thyroid disease, like really targeting in on those specific, I guess, gene targets and subsequent proteins, rather than looking at a whole you know, elimination of a whole chromosome, like why not really look at the specific genetic contribution that's causing that concern? I don't know if that makes sense.
Speaker 3:Yeah, I think all of that is happening right now at the same time. Like different scientists are always looking at different things, that it's a matter of how those ideas eventually collide. To support certain populations or people is kind of where things are, and that's just the natural landscape of how research is done. But with CRISPR-Cas9, I think we also have to remember that there's also, like you were mentioning, with the cells, like they just look damaged or there are other things happening is that it's not always a perfect technology, because you're targeting a specific sequence and that same sequence can be somewhere else and so you're going to have unintended targets also getting cleaved and replaced with this new sequence. And that's just where a lot of this like research always means to like, redo, repeat, like we always make fun of the re and research all the time. But it's just that's where research like takes time, it takes a lot of funding, it takes a lot of development, because, as researchers, I think we do have to play a role in ethics here and making sure that we are being responsible for what we're sharing in our publications, what we're doing as far as our control measures to make sure the technique we're doing is good enough to go to the next level.
Speaker 3:There's a whole series, another podcast too, you can talk, you can listen to, about papers that are constantly like retracted because they find something wrong with it.
Speaker 3:Science is not perfect.
Speaker 3:That's why we have to do it over and over and over a lot to get it to where we can be confident to introduce it to the human population, and that's where these scientists and these people are actually acknowledging it's not perfect.
Speaker 3:There's a lot of unintended consequences still happening with this technology and removing the third copy of that chromosome that they still need to investigate. And, of course, they also just need to be mindful about, you know, the diversity and the necessary genetic need of like how to apply this technology across the globe, because even though this technology is developed in one country this case, japan a lot of countries are going to pick up on it and be like how do we do this, how do we get this? And researchers are going to start talking to each other about how to roll this out more and validate each other's work. So this is where the conversation is happening that they were just even able to start to do this technology like the fact they demonstrated they were able to cleave it. It wasn't perfect, but there's going to be more research to come that people are going to still try to hone in and make this as more perfect as possible. That they can, that's just how it goes. That they can, that's just how it goes, you know.
Speaker 2:Well and I think to Katie's point too, it's also. That's also where we really need the involvement of people with lived experience who live with these conditions, their families to be involved in setting research agendas and making sure that, making sure that it's not proceeding in a way that is actually contrary to what the patient population wants.
Speaker 3:Or even what researchers want, because, remember, I did that survey study a couple years ago where I looked at what do parents want in research for their loved ones with Down syndrome and then I looked at the clinical trials that were happening at the federal level and we were kind of opposite of each other, like we were not in sync with one another. And so we do need to have that perspective, like you're saying, of what do families want? What do they want? What impacts them the most? What do people with Down syndrome want? And that's the other piece of the conversation we don't have right now at CRISPR-Cas9 is like how does someone feel, someone with Down syndrome feel, if someone comes up to them and says, hey, I can cure you, you know, but what about them? Would they want cured? And there's so many conversations out of this that we can spend probably the next day talking about things. But it would be nice to have those perspectives and we absolutely need to include them.
Speaker 2:Yeah, I think that is such an important component of it, and you know too, you know I've been involved with the Patient-Centered Outcomes Research Institute and that's a huge area of focus for them is making sure that all of these different research initiatives are guided by the patient-centered approach and doing what they care about and that includes the individuals with disabilities themselves primarily, really, and then also their family members and advocates in that community.
Speaker 2:I think too, also with what Katie was saying and again, this is the non-scientist public health person reading that article but it also seemed like they weren't really totally able to isolate the way that that third chromosome expresses itself in different people, and so so, as Katie was saying, like that could be for some that manifestation. Well, really, for almost all of our population there's the manifestation of Alzheimer's, but then for some of our you know, 50% have heart defects and 50% don't. So but and also, what part of the expression of that third chromosome are things that we love about that that manifest into things that we love about that person, what parts of those things of that third chromosome you know, like in our case, my, my husband's family has a really high incidence of cancer, and so what part of that extra chromosome is actually giving him more resilience against solid tumor cancers, which we also know that the third chromosome can do. So I think that's where, again, the targeted understanding of what's happening on that DNA strand is really important.
Speaker 1:I guess my read of this was kind, you know, kind of like a, I guess, proof of concept that it could be done, that you could take trisomic cells and cleave that third chromosome, but in terms of like practical movement forward towards therapeutics, it seems like it I guess lacks precision or focus on what really what it is that you're targeting and hopefully, as Nicole said, that there's work in that direction too. I guess you could wonder why they chose trisomy 21 as a focus for this research and also consideration of why you know publications like the New York Post kind of took this paper and went in the direction they did with the headlines that scientists are claiming to be able to eliminate Down syndrome.
Speaker 3:Yeah, katie, I think one of the big interests in focusing on the third copy of the chromosome is because it's like a whole other set of genes it's like 256 genes that are on the 21st chromosome other set of genes it's like 256 genes that are on the 21st chromosome. And so by eliminating that extra chromosome, like what genes are now being down-regulated or lower expressed, so that they could study that further and maybe understand more about what an extra chromosome does, because there's so many other chromosomal diagnoses out there, like trisomy 18, things like that Like we could really seek to understand by deleting these chromosomes of what is impacted and then maybe that gives us other methods to evaluate and study other treatments, not necessarily using it as a method of eliminating the extra chromosome out of a human, but again going back to using it as more of an intervention or a therapy, by understanding that cause and effect of what that extra chromosome does in cells. Because there's a lot of conversation by this study on okay, what can this do in neurons? What does this do on neuron development for intellectual disability? Because there is a lot of research on neuronal development and Down syndrome where as soon as the embryo starts developing, they notice that there is a difference in individuals with Down syndrome for brain development than there is people without Down syndrome, and so they can use some of this to maybe understand a bit about that and helping cognitive capacity.
Speaker 3:Or Alzheimer's disease, or again, like that, protein for Alzheimer's has been found as early as in the utero. Alzheimer's has been found as early as in the in the utero, you know, and that protein has been found floating in mom's bodies from the baby who's developing that extra protein. And no, this doesn't mean all moms are going to get Alzheimer's. I don't want to spread that rumor right now, but it's just what those are. A lot of things that, like, scientists look at is, sometimes they don't always see it from like our caregiver perspective. They see it from an actual I do this, what does it do? Here it's more of like a cause and effect thing, and so that's why we have to have all these ethics review boards, ethical conversations on how is science being portrayed and delivered to the population.
Speaker 4:I do wonder though, because I think it's an interesting question like why trisomy 21?
Speaker 2:would be chosen, as opposed to a trisomy 18, where there are some more significant health implications and could possibly benefit even more from some of those developments because of the low life expectancy. What do you think about that?
Speaker 3:Access to resources for researchers probably one of the biggest reasons because Down syndrome is the most common trisomic diagnosis, that has a longer survival rate, and so there's more access to these types of cells. Potentially that's the reason.
Speaker 2:Well, and if I was reading it right, didn't the study include a set of twins where one had Down syndrome, one did not, one did not? Yeah, and so then they were able to do the comparison and the expression based on, you know, having two cell samples from an affected twin and a non-affected twin, which would presumably be harder to find, much, much harder to find for trisomy 13 and 18.
Speaker 3:Yeah, but again very small sample size study here.
Speaker 4:Very, very, and I think to me too, the other key point here is how it's portrayed in the media, and I think that's where a lot of people in the downtown community bristle, and I think the reason why and I'm just going to postulate here but I think the reason why the news outlets do that, and I use news in very loose quotes when talking about some of the publications that were running this.
Speaker 2:I think that they're first of all trying to it's clickbait, right, they're just trying to get attention. But I do think they play into some of those ableist tropes and you know that, oh, you know, this is such a miracle cure because Down syndrome is so bad and it really does reinforce some very negative societal stereotypes about Down syndrome and I think that's really damaging overall.
Speaker 3:No, thanks for bringing that up, because I one night went down the Reddit portal If you guys have ever been on Reddit oh my gosh dangerous place. Night went down the Reddit portal If you guys have ever been on Reddit oh my gosh, dangerous place. And it was this scientific article we're talking about was being discussed on. You know how do you think parents feel? It was always asking what parents felt, again too, not individuals with Down syndrome how do they feel either, but a lot of them were making comments that I don't think many caregivers or self-advocates necessarily represent as far as how they feel about the research being done here. And you know there was a lot of praise, there was a lot of how it. Why would anybody want a child with Down syndrome? You know we've all seen that as caregivers of loved ones with Down syndrome, like the conversation in our society around us.
Speaker 3:But there's just one of the things to it like as far as a perspective of, not only is the titles being sensationalized in somebody's articles, but the way that the scientific publication was being interpreted was also wrong beneath the title and that, to me, is also what's disturbing is these media outlets that are trying to interpret what science is doing in these publications and they're not saying it correctly. They're still sensationalizing it. They're not throwing out the oh yes, they did it. But here's all the things that also went wrong. Very few articles that I read from like New York Post and all those like social kind of media outlets. They weren't talking about the things that went wrong. They were talking about how good this would be to eliminate Down syndrome, and that, to me, did bother me a lot as a mom of a child with Down syndrome, and that's what I thought was wrong with all the news articles that are out there.
Speaker 1:And it was a sign to see that they're just not being forthright about the challenges and limitations of the research as well.
Speaker 4:Well, and I'll echo what you were saying too as far as what you found in Reddit. Well, and I'll echo what you were saying too as far as what you found in Reddit. Like, I've posted articles in popular media about Down syndrome a few times and it's almost my family at this point. We've kind of developed these scars that have, you know, healed from many wounds over the years, but where we play bingo with the comments, because there is always someone who says you're a saint, there is always someone who says you are a drain on the resources of society, there is always someone who says you should have aborted, there's always the whole gamut of people who make ableist comments and just assumptions about what someone else should or shouldn't do with that information, because I don't presume to make judgment calls about what other people should do with a diagnosis or the treatment of a child or whatever. Those are very, those are very sensitive personal conversations, but just that people feel so free to comment on that. About disability is.
Speaker 2:It's a really disturbing thread in our society absolutely I.
Speaker 3:I try not to read all those comments like, because they do make me mad, because I, you know all of my kids. I've got four of them. They'll say Kate's probably the most spoiled of all of our kids, but she's also treated just the same as all of our other children too. And I don't know, I just I don't know where I'd be without her.
Speaker 4:To be honest, Randy shaped my life in the most profound ways.
Speaker 2:I'm so incredibly grateful and he is not a perfect angel all the time. In fact, I have been flipped off by him and it made me laugh. But you know, I but. But it's important to remember that these are not, these are not cookie cutter cutter people who are, you know, but it's important to remember that these are not cookie cutter people who are, you know, always perfect all the time, or always so, so hard all the time. They're individual.
Speaker 3:Temperamental Stubborn.
Speaker 2:Wonderfully ordinary people.
Speaker 3:But no, I love Kate just as much as you love Andy, but no, I love cake just as much as you love Andy. And just one of the things that just really triggered me with a lot of stuff that was floating around social media is just the parents' reaction. And I think I was more upset because I felt like the article that the scientist did was just being way blown out of proportion and over-sensitized, mostly due to the media, and so I felt even more bad because, like you know, on social media trying to make comments and say, no, no, that's not what the science article said, You're going to be defenseless in many ways because you're, like one person that actually knows the science and a lot of parents are just going to read what's on those articles. And like I just felt so bad because I'm like, no, please listen. Like this science is a long way to go.
Speaker 2:Like just please Well, and it robs individuals with Down syndrome and their families of the opportunity to really evaluate it. Without that, without that lens that the media has applied to it, which I mean again, the media did draw our attention to it, but at the same time, the way it was done was very irresponsible.
Speaker 3:Yeah, I don't know if I'm yet to really read a good article about this publication yet. As Katie was saying, I think media needs to do a better job of actually outlying what went wrong, the limitations of the study. Like this was an N of two study. You know twins in skin cells and a petri dish, which is a very controlled environment, and also you know what this can do for the future. Like I don't think this article really went into a lot of the next steps, of what they want to do with this research. There was a little little bit about it, but like I think more of that needs to be highlighted. Instead of the let's cure down syndrome, we need to really focus more on how this can benefit therapeutics and interventions and more realistic things.
Speaker 1:let's say what is most promising to you about researching in this area?
Speaker 3:Precision medicine, I think, is the most promising part of CRISPR-Cas9. We can be very precise in how we cure things, especially in rare diseases. We can be very precise in how we cure things, especially in rare diseases, people that might have a small deletion or a receptor that's missing or overexpressed. Things like that, I think, is where this can be really really beneficial Sickle cell disease, people that have sickle cell.
Speaker 3:Crispr is something that can really benefit sickle cell disease, maybe even things like eosinophilic disease. We don't know. There's so much potential for this ghost but, just as these scientists found in their research, there's unintended consequences, which is why a lot of these discoveries or things are not necessarily being made public or are really understood enough to share broadly, if you know what I mean. And I think this paper just kind of got out from underneath them a little too quickly for them to really be prepared for the potential reaction of us caregivers and also some of us researchers that are like what is this going to do? What is this going to do to my child? What does this do for research? All those questions that just pop up in the air.
Speaker 2:And I think for me, again, that precision, those precision interventions hold promise. But again, those precision interventions hold promise, but again we are so far out from that and it is such tiny, tiny, incremental steps and it's important to stay abreast of them, no doubt Because there are certain things that are completely off the table for me, like heritable human genome editing, and I'll tell you, I went into that National Council on Disability report not really knowing a whole lot, but then, after reading the books, after hosting the community conversations, reading the articles, I was like there just isn't a safe way to do that and an ethical way to do that. So to me that one's off the table. But I think some of these other, you know, therapeutic interventions could actually increase access and benefit health in some ways, as long as they proceed with care and caution and recognizing how often those off target, you know, and kind of ineffective treatments can can occur. So anyway, I'm just so glad we were able to have this conversation and wanted to give you any last opportunities to share what you'd like.
Speaker 3:No, I just really hope this helps caregivers understand what this research article actually is about, what science is really, how science actually works. It's a very long process, you know. It takes time for us to really get things to the bedside level of treatments and along that pathway, going from the bench to the bedside, there's going to be ethical conversations. There's going to be laws that are formed and created to protect people. I don't think that any scientist really wants to intend harm on anyone or cause any sort of undue reaction. That's going to be seen poorly. You know, I always reflect on like this conversation as I was reading all these articles about Dolly the sheep, the cloning days back when and the reaction across the media when that happened. This may not be to that scale in some degree, but there is opportunity with this technology. We just have a long way to go.
Speaker 2:And I think that's where I stand too is that any of this needs to be done with input from the community, with that careful care and stepwise approach and acknowledging, as this paper does, all of the risks and what didn't work, and also making sure policymakers are involved, because there are certain things that we want to regulate with these technologies and that we as a society need to decide on, and that needs to include the affected populations.
Speaker 3:Long ways to go.
Speaker 2:All right. Well, thank you so much again, Nicole. I'm glad we were able to have this conversation, Some shout outs and gratitude. I am really grateful to all the disability advocates, policymakers and medical professionals who have been, who are just advocate for these issues all the time and who are among our friends and colleagues. And I also want to show a lot of appreciation to the National Down Syndrome Congress, where Nicole and I got to see each other just a couple of weeks ago so fun and also the Patient-Centered Outcomes Research Institute for their focus on making sure that research is patient-centered and making that a priority in our world.
Speaker 1:Yeah, and I think today for my gratitude, I want to just share my thanks for the work that the National Council on Disability has done at the NCD, which we've referenced many times today. The NCD is an independent federal agency that provides advice to policymakers, the president, congress, the executive branch agencies, and this advice is intended to promote goals that are in line with the Americans with Disability Act, which actually the NCD was really instrumental in seeing happen. I would encourage any of our listeners to check out the NCD was really instrumental in seeing happen. I would encourage any of our listeners to check out the NCD's website. They've issued many really important reports around these new and emerging technologies, genetic testing and research in this area, including a report that Stephanie led and was published last summer titled From Fetal Surgery to Gene Editing the Current and Potential Impact of Prenatal Interventions on People with Disabilities, and we'll link that in our show notes as well. So thank you to the NCD.
Speaker 1:As we're closing out here today, we've got some planned episodes coming up which we're really excited about. We'll be talking more with some guests around this pronatalist movement and some of the ethical and big picture issues there, as well as talking to some guests around the sore, sore tide, a new not so new but treatment that has quite a bit of controversy and the people that it's being marketed to treat. So we look forward to having more conversations about that and, as always, we invite your comments, your feedback, and thank you so much for being here with us today and we'll see you next time. Thank you so much for being here with us today and we'll see you next time.
Speaker 2:Thanks so much.
