Podcasts about Fragile X syndrome

In this episode of Behind the Genes, we explore the hopes, concerns and complex questions raised by the idea of a lifetime genome — a single genomic record used across a person's life to guide healthcare decisions. Drawing on conversations from Genomics England's Public Standing Group on the lifetime genome, our guests explore what it might mean for individuals, families and society to have their genome stored from birth, and how it could transform healthcare. The discussion reflects on the potential for earlier diagnoses, better treatments and long-term prevention, alongside pressing ethical concerns such as data security, consent, and the impact on family dynamics. Participants share their views and discuss the future role of genomic data in medicine, with insights into how trust, equity and public dialogue must shape this evolving field. Our host for this episode, Dr Harriet Etheredge, is joined by Suzalee Blair-Gordon and Gordon Bedford, two members of the Genomics England's Public Standing Group on the lifetime genome, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that helped to facilitate this work. Together, they consider the broader societal implications of lifetime genomic data, and how public involvement can help guide policy and practice in the UK and beyond. This conversation is part of our ongoing work through the Generation Study, exploring how genomics can be used responsibly and meaningfully from birth onwards. You can listen to some of our Generation Study episodes by following the links below. What can we learn from the Generation Study? How has design research shaped the Generation Study? What do parents want to know about the Generation Study?   "This isn't just a science project, it's about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction."   You can download the transcript, or read it below. Harriet: Welcome to Behind the Genes. Suzalee: I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms.  Harriet: My name is Harriet Etheredge, and I am the Ethics Lead on the Newborn Genomes Programme here at Genomic England. On today's episode I'm joined by 3 really special guests, Suzalee Blair and Gordon Bedford, who are members of Genomics England's Public Standing Group on Lifetime Genomes, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that has helped us to facilitate this work.  Today we'll be discussing the concept of the lifetime genome. What do we mean when we say, ‘lifetime genome'? How can we realise the promise of the lifetime genome to benefit people's healthcare whilst at the same time really appreciating and understanding the very real risks associated? How do we collectively navigate ethical issues emerging at this genomic frontier? If you enjoy today's episode, we would really love your support. Please share, like and give us a 5-star rating wherever you listen to your podcasts. And if there's a guest that you'd love to hear on a future episode of Behind the Genes, please contact us on podcast@genomicsengland.co.uk. Let's get on with the show. I'll start off by asking our guests to please introduce yourselves.  Suzalee, over to you.  Suzalee: Thanks, Harriet. So I am a proud mum of two kids, teacher of computing at one of the best academic trusts in the UK, and I am also a sickler, and for those who don't know what that means, I am living with sickle cell disease.  Harriet: Thank you so much, Suzalee. Gordon, over to you.  Gordon: I'm Gordon Bedford, I'm a pharmacist based in The Midlands. I've worked in hospital and community pharmacy. I have a genetic condition, which I won't disclose on the podcast but that was my sort of position coming into this as I'm not a parent of children, but it was coming in from my perspective as a pharmacist professional and as a member of society as well.  Harriet: Thank you so much, Gordon. And, last but certainly not least, Suzannah.  Suzannah: So, yes, Suzannah Kinsella. I am a social researcher at Hopkins Van Mil, and I had the pleasure of facilitating all of the workshops where we gathered together the Public Standing Group and working on reporting the outcome from our discussions, so delighted to be coming in from South London. Harriet: Thank you so much, everyone, and it's such a pleasure to have you here today. So, many regular listeners to Behind the Genes will now that Genomics England is currently undertaking the Generation Study. I'm not going to speak about it in much detail because the Generation Study has already been the subject of several Behind the Genes podcasts and we'll put some links to these in the show notes for this episode. But briefly, the Generation Study aims to analyse whole genomes of 100,000 newborn babies across England, looking for 250 rare conditions. We have a view to getting these children onto treatments earlier and potentially enhancing their lives.  The Generation Study is a research project because we don't know if the application of this technology will work. And as a research project we can also answer other important questions, such as questions about a lifetime genome. When we invite parents to consent to the Generation Study on behalf of their newborn babies, we ask to store babies' genomic data and linked healthcare data in our trusted research environment.  This helps us to further research into genes and health. But a critical question is ‘what do we do with these data long term?' And one of the potential long-term uses of the data is to revisit it and re-analyse it over a person's lifetime.  We could do this at critical transition points in life, like adolescence, early adulthood or older age, with the aim of using the genomic data to really enhance people's health. But this is a very new concept. There's been little work on it internationally, however I am pleased to say that interest seems to be picking up. In the Generation Study, whilst we are at the present time doing no lifetime genomes work, we are looking to explore the benefits, risks and potential uses of the lifetime genome.  This Public Standing Group on lifetime genomes was our first foray into this area.  So, I'd like to start off by inviting Suzannah to please explain a bit more about what the Public Standing Group is, why it was created and how a group like this helps us to generate early deliberation and insight.  Suzannah: So, the first thing I should talk about is who were these 26 people that formed part of this group, and the first thing to say is that they were a wide range of ages and backgrounds from across England, so some from Newcastle, some from London and everywhere in between. And these 26 people all had one thing in common, which is they had all taken part in a previous Genomics England public dialogue, either the whole genome sequencing for newborn screening which took place in 2021, or in a more recent one in about 2022/23 which was looking at what should Genomics England think about in terms of research access to data that's drawn from the Generation Study. So, the great thing was that everybody had already some previous knowledge around genomics, but the concept of a lifetime genome was completely new. So these 26 people met on 5 occasions over the period of 2024, mostly meeting face to face, and really the task that they were given was to look at the lifetime genome and look at it from every angle; consent, use, information sharing and all sorts of other aspects as well. Harriet: Gordon and Suzalee, you were participants in our Public Standing Group, I'd love to hear from you what your roles in the Standing Group were and what you found most interesting, but also for you which bits were the most challenging. Suzalee, shall we start with you? Suzalee: For me the most interesting bits were being able to learn about one's genome and, through Genomics England and their possible use of pharmacogenetics, could determine the specific medication that could be prescribed for a new health condition instead of expensive and possibly tonnes of adverse side effects trial and error medications. Additionally, as a person living with sickle cell disease, I got the chance to share my story and to give voice to people living with the same condition or similar to myself, and how the potential of the genomics newborn programme could help our future generation. There were some tricky bits, and the most challenging bit was to initially discuss and think about the idea of whether or not a parent might choose to know or not to know the potential of their newborn developing or prone to develop a certain condition based on the data received from the programme. My thought went back to when I gave birth to my first child 16 years ago and I was adamant to know if my child would inherit the sickle cell disease, what type, if it would be the trait. In my mind I knew the result, as my haemoglobin is SC and their dad is normal, but I wanted to be sure of my child's specific trait. But then I asked myself, “What if my child was part of the Newborn Genomes Programme, then the possibility exists that other health conditions could be detected through the deep analysis of my child's genome. Would I really want to know then? What would be the psychological effect or, in some cases, the social impact of what I have to learn?” Harriet: Thank you so much, Suzalee. And I think it's just wonderful to hear about the personal impacts that this kind of work can have and thank you for bringing that to us.  Gordon, I'll hand over to you. I'd be really interested in your thoughts on this. Gordon: So my role in the Public Standing Group was to give my section of society my experiences in life to bring them together with other people, so experiences like Suzalee and the 24 other people that joined us on the study, to bring our opinions together, to bring our wide knowledge and group experiences of life. And it's important to have a wide group, because it forces us to wrestle with differences of opinion. Not everybody thinks like I do.  As a pharmacist, I can see the practical side of genomics, like pharmacogenomics, where we could use a baby's genome to predict how they'll respond to drugs over their lifetime. That's a game-changer for avoiding adverse reactions or ineffective treatments, but not everybody's sold on it. Some in our group worried about privacy, who gets this data, or ethics, like whether it's fair to sequence a baby who can't say yes or no. I get that. I don't have children, but I hear those things clearly. The most interesting bits for me, the pharmacogenomics discussion in meeting two stood out, everyone could see the tangible benefits of tailoring medicines to a person's genome, making treatments more effective, and in Meeting 5 designing our own lifetime genome resource was also fascinating. Ideas like it for public health research showed how far-reaching this could be. Some of the challenging sides of things that I came across, the toughest part was grappling with unknowns in Meeting 4, like how to share genetic info with your family without damaging relationships. Those risks felt real, and it was hard to balance them against the benefits, especially when trust from groups like minority ethnic communities is at stake. Harriet: Thank you so much, Gordon. I think from you and Suzalee it's so fascinating to hear how you were grappling, I think, with some of your personal and professional feelings about this and your deeply-held personal views and bringing those first of all out into the open, which is something that is very brave and we really respect and admire you doing that, and also then understanding that people do hold very different views about these issues. And that's why bring these issues to an engagement forum because it's important for us to hear those views and to really understand how people are considering these really tricky ethical issues. So, Suzalee, I'm wondering from your perspective how do you feel we can really be respectful towards other people's points of view? Suzalee: Yes, Harriet. In spite of the fact that we had different viewpoints on some topics discussed, every member, researcher, presenter and guests were respectful of each other's point of view. We all listened to each other with keen eyes, or sometime squinted eyes, with a hand on the chin which showed that what was being said was being processed or interpreted. All our views were recorded by our researchers for further discussion and analysis, therefore I felt heard, and I believe we all felt heard.  Harriet: Do you have any examples that you can recall from the groups where there were differing points of view and how we navigated those? Gordon: Where we had screening at age 5, but we agreed on an opt-out model, because it could help spot issues early. But some worried - psychological impacts, knowing too much too soon. But we looked at an opt-out model rather than an opt-in model because it's easier to say to somebody, “If you don't want to continue with this, opt out” rather than trying to get everybody opting in at every different age range. So, as we reach the age of 5, 10, 15, 20, whatever, it's easier to get people to opt out if they no longer want to be part of that rather than trying to get them to opt in at each stage throughout their life. Harriet: Suzannah, do you have anything to add there as a facilitator? How did you feel about bringing these different points of view together? Suzannah: Yeah, you asked about where are the tensions, where do people maybe agree a bit less or agree and hold different views, and I think what stands out is particularly…  There was an idea floated by one of the speakers about you could have your DNA data on an NHS app and then, let's say if you're in an emergency, a paramedic could have access to it or others. And that really I think brought out quite a wide range of perspectives of some in the group feeling, “You know what, anyone who has an interest, anyone that can help my health, let them have access to it as and when, completely fine,” and others took a more cautious approach saying, “This is my DNA, this is who I am, this is unique to me, my goodness, if someone, some rogue agent manages to crash the system and get hold if it goodness knows what nightmare scenario it could result in,” and so had a much more keep it locked down, keep it very limited approach to having access to your lifetime genome data and so on. So that was a really interesting example of people going, “Yep, make it free” and others going, “No, just for very specific NHS roles,” which I thought was fascinating. Harriet: Yeah, thank you so much, Suzannah. And I think it's a real tangible challenge that those of us working in this area are trying to grapple with, is finding the middle ground here with all of the challenges that this involves, for instance, our data infrastructure and the locations at which data are held. Advert: The Genomics England Research Summit is fast approaching and registration is now open! Join us for this one day in-person event on Tuesday 17 June 2025. This year's agenda dives into rare condition diagnosis, cancer genomics, pharmacogenomics, therapeutic trials, and the impact of emerging technologies. Hear from leading experts and inspirational speakers as we explore the present and future of genomics and the latest research and technology from the Genomics England research community. Keep an eye on the website, genomicsresearchsummit.co.uk for all the details and to secure your spot. Spaces are limited, so don't miss out. We'll see you at the summit! Harriet: I think this brings us really nicely onto looking at some of the ethical, legal and social issues that we need to think through when we're considering the lifetime genome.  I'm wondering if we can expand on some of these and the importance of addressing them. Gordon, would you like to give us your thoughts? Gordon: Sure, thank you. Our job was to dig into how a baby's genome could be used over the lifetime, think pharmacogenetics for better drugs, early childhood screening for conditions or carrier testing to inform family planning. We saw huge potential for individual health like catching diseases early, but also broader impacts like reducing NHS costs through prevention. Weighing the risks and benefits. The benefits like earlier diagnosis or research breakthroughs grew clearer over time with ratings rising from 4.1 to 4.7 - that's out of, I believe, a figure of 5, but risks like data breaches and family tensions over shared genetics stayed significant. We agreed the benefits could outweigh the risks but only with mitigations like transparent governance and strong security. And what are the global implications moving forward? What we discussed isn't just for the UK, it's feeding into the global conversation about newborns in genomic research. That responsibility made us think hard about equity, access, and how to build public trust. Harriet: Thank you, Gordon, I think there's so much there to unpack. And one point I think in particular that you've mentioned, and this came out really strongly as one of our main findings from these groups, was the way that a lifetime genome and the way that we might deliver that information could really impact family dynamics in ways that we might not have really thought of before or in ways that we really have to unpack further. And, Suzalee, I'd love to hear from you about this, how might diverse family dynamics need to be considered? Suzalee: Harriet, as it relates to diverse family dynamics a burning legal issue, which is then triangulated into being considered an ethical issue as well as a social issue, was the question can siblings of sperm donors be informed of life-threatening genomic discoveries? Whose responsibility is it? Will policies now have to be changed or implemented by donor banks to take into consideration the possibility of families being part of the new genomes programme? Harriet: Yeah, thank you, Suzalee. I think there's so much there that we have to unpack and in the Generation Study we're starting to look at some of those questions, but going forward into potential risks, benefits and uses of the lifetime genome, all of these new technologies around human reproduction are things that we're going to have to consider really, really carefully through an ethical and legal lens. Suzannah, I wondered if you have anything to add to these as major ethical issues that came out in these groups. Suzannah: I think, as you say, people were so fascinated by the idea of this information landing in a family, and where do you stop? Do you stop at your siblings, your direct family, the brothers and sisters of a child?  Do you go to the cousins?  Do you go to the second cousins?  It's this idea of where does family stop. And then people were really interested in thinking about who does the telling, whose job is it? And we had this fascinating conversation – I think it was in Workshop 3 – where this very stark fact was shared, which is the NHS doesn't know who your mother or your father or your siblings are; your NHS records are not linked in that way. And so that presented people with this challenge or concern that “Actually, if I get quite a serious genetic condition diagnosed in my family whose job is it to share that information, what support is there to do that and how far do we go?”  So, I think people were really fascinated and hopeful that Genomics England will really be at the vanguard of saying, “How do we as we move into an era of more genetic data being used in our healthcare, how's that managed and how's it shared?” Harriet: Yeah, thank you so much, Suzannah. So I think that what's coming out through everything that you're all saying is the huge breadth of issues that came up here. And of course we're seeing, very encouragingly, so many nods to the potential benefits, especially around things like pharmacogenomics, but we are seeing some risks.  Gordon, I wondered if you'd like to elaborate a bit further. Gordon: So, something that came up, and it divided the group quite considerably, carrier status divided us. Some saw it as reducing disease prevalence and others feared it could fuel anxiety or stigma amongst the family or other families. It showed how personal these choices are and why families need control over what they learn. Harriet: Yeah, it's a very good point, and carrier status is something that could be a conceivable use of our lifetime genome record. Suzannah? Suzannah: Just building off what Gordon was talking about, I remember there were also discussions around are we getting into a state where this is about eradication of so many different conditions, and actually how does that sit with a society that is more embracing, accommodating and supportive of people with different health needs. So, I think that was quite a big ethical discussion that was had, is, and particularly where we think about what we screen for in the future over time and so forth, people really being conscious that “Actually, where are we going with this? Are we risking demonising certain conditions and saying we don't want them on the planet anymore and what are the consequences of that?” Advert: If you're enjoying what you've heard today and you'd like to hear some more great tales from the genomics coalface, why don't you join us on the Road to Genome podcast, where our host, Helen Bethell, chats to the professionals, experts and patients involved in genomics today. In our new series, Helen talks to a fantastic array of guests including the rapping consultant, clinical geneticist Professor Julian Barwell about Fragile X Syndrome, cancer genomics and the holistic approach to his practice. A genuine mic-drop of an interview. The Road to Genome is available wherever you get your podcasts. Harriet: And I think came to a point in our final meeting where we were asking our participants, so Suzalee and Gordon and everybody else in the room, whether you might consider having a lifetime genome for yourself and what that would look like. We'd love to share your views about that, and Suzalee, I'm wondering if you can share your thoughts on that with us first. Suzalee: Definitely. I would wholeheartedly be interested in the lifetime genome programme if it was offered to me right now. I believe that the pros for me are phenomenal. I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms. Harriet: Thank you, Suzalee. And, Gordon, how did you feel about it? Gordon: Being part of the group showed me how genomics is both thrilling and daunting.  I'd lean towards ‘yes' for a lifetime genome resource for the chance to detect conditions early, but I get why some people may say ‘no' over the data fears or ethical lines. This isn't just a science project, it's about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction. Laws would have to be enacted regarding the storage, use and availability of genetic data. We haven't yet seen as well, how AI's complete benefits in medicine will develop over time. Harriet: Thank you so much, Gordon and Suzalee, for sharing that. And, Suzannah, I know that at the end of the Public Standing Group we generally asked all of our participants whether they would choose to have a lifetime genome, the same sort of question I've just asked Suzalee and Gordon. I wondered if you could just briefly give us an overall sense of how the Public Standing Group participants felt about that. Suzannah: Yes, so it's interesting to see that actually not everyone said, despite spending a year or almost a year discussing this, not everyone said, “Sign me up,” 6 said, “No” or “Maybe.” And the reasons they gave, this idea, “Well, all this data, could a government sell it off?  What guarantees have we got?”  So that was a reason. Somewhat of a concern also about breaches but also this idea of “What do I really want to know? Do I want to have a lifetime resource that can tell me what's going to happen next in my health?” and some say, “Let me deal with it when the symptoms start coming and that's the way I want to handle it.”  So, yeah, about 20 said, “I'd be really interested,” similar to Suzalee and Gordon, 6 on the fence or firmly, “No thanks.” Harriet: Thank you so much, Suzannah. I think your point about uncertainty there is so relevant and important to us. We see uncertainty across genomics and we're layering that here with uncertainty about futures, we're layering that with uncertainty about health. And I hope that this has served to really illustrate the magnitude of the challenge we're looking at here and I think also why for us as Genomics England this is just something we're exploring. There's so much to unpack, there's so much still to be done. In terms of our next steps for Genomics England, it feels like we could speak about this for a week but I'm going to have to wrap it up here. So, for us what are our next steps?  We hope really that as we publicise the findings of this Public Standing Group and when we start combining some of our work and looking at it in harmonisation with the work that others are doing across the world, we might be better positioned to understand the potential future directions that a lifetime genome could take. That's obviously very, very exciting because we expect to see this area of enquiry expanding significantly over the coming years.  And we're already hearing about a number of other countries who are also doing birth cohort studies like we are who might hope to use similar applications of the lifetime genome going forward. So, there's a real opportunity for us here to collaborate and it's really heart-warming that the voices of our participants in this Public Standing Group can be used to facilitate that level of engagement. For us at the Generation Study, we're already looking at the next iteration of our lifetime genomes work and we're being led by the findings of this Public Standing Group as we move forward, specifically in that we're going to be starting to take some of these emerging themes to the parents of our Generation Study babies to really find out how they would feel about them. Harriet: I'd like to extend my sincere gratitude to all for being my guests today, Suzannah Kinsella, Suzalee Blair and Gordon Bedford. Thank you so much for your time and joining me in this discussion of the lifetime genome. If you'd like to hear more content like this, which I am sure you would, please subscribe to Behind the Genes on your favourite podcast app. Thank you so much for listening. I've been your host, Dr Harriet Etheredge.  This podcast was edited by Bill Griffin at Ventoux Digital and produced by Deanna Barac for Genomics England.

On this episode of Talking Away The Taboo, Estie Rose, MS, CGC, Heather Hipp, MD, and Gail Heyman, join Aimee Baron, MD for the second episode of our 5-part IWSTHAB x JSCREEN Podcast series is all about Fragile X. When people think of genetic testing before pregnancy, they often think of Tay-Sachs or cystic fibrosis—but Fragile X is just as important and far less understood. In this episode, Estie Rose and Dr. Heather Hipp explain the difference between recessive and X-linked conditions, what it means to be a Fragile X carrier, and how it can affect fertility and family planning. We also hear from Gail Heyman, who shares her deeply personal journey navigating Fragile X in her own family—and how that led her to advocacy. Whether you're building your family or supporting someone who is, this episode is filled with insight, honesty, and heart. -Click here to watch Part 1: Introduction to Genetics and Infertility More about Estie:  Estie Rose is a certified genetic counselor at jscreen. She has a special interest in community education and serves as a resource for individuals who are facing genetic health issues. Connect with Estie:  -Follow her on Instagram More about Heather: Dr. Heather Hipp is a Reproductive Endocrinology and Infertility (REI) physician and an Associate Professor at Emory University School of Medicine. She earned her undergraduate degree at Duke University and then her MD degree at Emory University, where she continued her training in residency and fellowship. She is the Program Director for the REI fellowship at Emory and serves as chair for the American Society for Reproductive Medicine Education Committee. Her profession memberships include American College of Obstetrics and Gynecology, American Society for Reproductive Medicine, Alpha Omega Alpha Honor Society, and American Gynecological & Obstetrical Society. She is also on the National Fragile X Foundation Scientific and Clinical Advisory Committee. Her research focuses on women who are carriers for the fragile X mutation and their risk of premature ovarian insufficiency, as well as trends and outcomes of in-vitro fertilization (IVF) in the United States. More about Gail:   Gail Heyman is a passionate advocate and leader in the Fragile X community. After her son was diagnosed in 1989, she co-founded the Fragile X Association of Georgia and has served as its director ever since. Her family's experience—spanning three generations affected by Fragile X conditions—fuels her tireless work to raise awareness, promote research, and support others navigating similar challenges. Gail also serves on JScreen's advisory board and has received national recognition for her leadership in genetic advocacy and inclusion. -Click here to learn more about Gail's story -Check out Carly Heyman's book, My eXtra Special Brother -Learn more about Fragile X here Connect with JScreen:  -Visit their website -Coupon Code: IWSTHAB18 for $18 off initial testing (no expiration date on this offer) -Follow JScreen on Instagram Connect with us:  -Check out our Website - Follow us on Instagram and send us a message -Watch our TikToks -Follow us on Facebook -Watch us on YouTube

In this episode of Behind the Genes, we explore how ethical preparedness can offer a more compassionate and collaborative approach to genomic medicine. Drawing on insights from the EPPiGen Project, our guests discuss how creative storytelling methods, like poetry, have helped families and professionals navigate the complex emotional, ethical and practical realities of genomics. Our guests reflect on the power of involving patients and families as equal partners in research, and how this can lead to more inclusive, empathetic, and effective care. The conversation explores how ethics can be a tool for support, not just regulation, and how creating space for people to share their stories can have a lasting impact on healthcare delivery. Our host for this episode, Dr Natalie Banner, Director of Ethics at Genomics England is joined by Professor Bobbie Farsides, Professor of Clinical and Biomedical Ethics and Dr Richard Gorman, Senior Research Fellow, both at Brighton and Sussex Medical School, and Paul Arvidson, member of the Genomics England Participant Panel and the Dad's Representative for SWAN UK. Paul shares his poem 'Tap tap tap' from the Helix of Love poetry book and we also hear from Lisa Beaton and Jo Wright, both members of the Participant Panel. "The project gave us the tools to find a different way to get at all of those things inside of all of us who were going through that experience... It's almost like a different lens or a different filter to give us a way to look at all those things, almost like a magnifying lens; you can either hold it really close to your eye and it gives you like a blurry view of the world that goes on and you can relax behind that and find a way to explore things in a funny way or an interesting way, but you can also go really close into the subject and then you've got to deal with the things that are painful and the things that are difficult and the things that have had an impact." You can download the transcript, or read it below. Natalie: Welcome to Behind the Genes. Bobbie: In an earlier conversation with Paul, he used the word ‘extractive,' and he said that he's been involved in research before, and looking back on it he had felt at times it could be a little bit extractive. You come in, you ask questions, you take the data away and analyse it, and it might only be by chance that the participants ever know what became of things next. One of the real principles of this project was always going to be co-production and true collaboration with our participants. Our participants now have a variety of ways in which they can transport their voices into spaces that they previously found maybe alienating, challenging, and not particularly welcoming. Natalie: My name is Natalie Banner, I'm the Director of Ethics at Genomics England and your host on today's episode of Behind the Genes. Today I'll be joined by Paul Arvidson, a member of the participant panel at Genomics England, Professor Bobbie Farsides, Professor of Clinical and Biomedical Ethics at Brighton and Sussex Medical School, and Dr Rich Gorman, Senior Research Fellow, also at Bright and Sussex Medical School.  Today, we'll be exploring the ethical preparedness in genomic medicine or EPPiGen Project. This project examined how the promise and challenges of genomic medicine are understood and experienced by the people at the heart of it, both the clinicians providing care and the patients and families involved.  A big part of the EPPiGen Project explored using creative methods of storytelling and poetry to explore the experiences of parents of children with rare genetic conditions.  We'll discuss why the idea of ethical preparedness is crucial in genomic medicine to acknowledge the challenges and uncertainties that often accompany the search for knowledge and treatment in genomic healthcare, and to help professionals develop the skills to navigate the complex ethical considerations.    If you enjoy today's episode we'd love your support. Please like, share and rate us wherever you listen to your podcasts. Is there a guest you'd really like to hear on a future episode?  Get in touch at podcast@genomicsengland.co.uk. So, I'm going to ask our fantastic guests to introduce themselves.  Paul, would you like to go first? Paul: Hi, I'm Paul Arvidson. As well as my Genomics England hat, I've got a SWAN hat as well, I'm the dads' rep for SWAN UK, and I'm on the poets from the EPPiGen Project.  Natalie: Brilliant to have you hear today. Thanks, Paul. Rich?  Rich: Hi, I'm Rich Gorman, I'm a Senior Research Fellow at Brighton and Sussex Medical School and I've been working on some of the research on the EPPiGen Project that looks at people's social and ethical experiences of genomic medicine, and particularly families' lived experiences of genomics.  Natalie: Brilliant. Really looking forward to hearing from you. And Bobbie?  Bobbie: Hello, I'm Bobbie Farsides, I'm Professor of Clinical and Biomedical Ethics at Brighton and Sussex Medical School and co-PI with Professor Anneke Lucasson of the Wellcome Trust funded EPPiGen Project, and it's been my pleasure and privilege to be involved in the work that we're going to talk about today.  Natalie: Really fantastic to have the 3 of you here today. So, we're going to take a slightly unusual approach to starting the podcast today and we're going to begin with Paul who's going to read us a poem from the book Helix of Love. Paul, over to you.  Paul: This is called Tap, Tap, Tap.  ‘Tap, tap, tap, I hold the egg to my ear. There it is again, tap, tap, tap. Run to get a torch and light through the shell, to see who's tapping from within. Chicken's home from work these days just for fun and the odd egg. Market stalls swapped for medicines, cash boxes for cough machines. We kept the apron though. Profound learning disability is our life now, most of it, learning about it, learning from it, surviving with it, despite. It's a subtle egg though, this. The shell is there, invisible, but there's a person inside, tap, tap, tap.  What are you trying to tell us about what the world's like for you? Are you bored? Do you hurt? Is your sister a love or a pain? Tap, tap, tap. I wish I could set you free.'  Natalie: Thank you, Paul. Such beautiful and powerful words. I wonder if you wouldn't mind telling us a little bit about that poem and your journey and maybe touch on what the EPPiGen Project has meant for you.  Paul: Wow, that's a lot to unpack in one go. I suppose the oddness of the metaphor is probably worth a mention. The way the project worked is that Bobbie and Rich collected together a proper poet, Dawn Gorman, and she led us through the process of kind of, she basically taught us all to be poets from scratch, it was… When you say it like that it was a hugely audacious project really to just collect all these randoms together in a room and throw a poet at them and see what happened.   And they trusted us, I suppose, and trusted Dawn that there was going to be something came out of this. But one of Dawn's techniques was that like each week we did… I think we did… Did we do 6 weeks, chaps? Which felt like a huge amount of time, but it went in milliseconds. But what she did every week was that she gave us either a poetic form to work with, like, you know, “This week we're going to learn how to do a haiku, or a sonnet,” or whatever, or she'd gone away and thought of a particular poem that she thought might resonate with us and then she'd bring that to the session. And she'd read a poem out and then say, “Right, what did you make of this? Go away and write what it inspires you to write.”    So, the poem that I wrote was, the inspiration for that session was a poem called The Egg by Richard Skinner. His poem was more about the form of the object itself, so, although that sounds really abstract, it really, really helped. So, every week it would be like Dawn threw this object into the group and said, “Right, okay, here's your new prompt, bosh, off you go.” And although that sounds like the most obscure way to deal with anything, because you get a structure around which to organise your thoughts it was just this like hugely powerful thing for everybody.    And so, the thing that came to mind for me was the metaphor of the egg rather than the egg itself and it just kind of chimed with all of us. Like we used to run the egg stall in Minehead farmers' market and so, I married into a country girl and so she had like 200 laying hens at one point, and so we had this whole market stall antics but also it spoke to so many things in one hit. So we gave up that part of our lives as our daughter Nenah's condition became more and more complex.    She was always, once we knew what her genetic condition was one of the few things that we knew from the get-go was that it was progressive. So we knew in advance that that was the case, but we didn't know what that meant. And so slowly but surely one of the things we had to do was give up our working life, you know, one week and one hour at a time, it felt. So part of the poem's about that as well, the shift in the poem from the comedy bit to the beginning to the more serious bits at the end, and it kind of felt like we gave those things up day by day but the poem kind of got to speak to that.   And then there's also the metaphor. Once you've got a good metaphor it's always good to run with it, you know? And so the idea of the metaphor of somebody who's got profound learning disabilities and can't speak being inside this shell and as parents you're always kind of peeking in from the outside to see what's going on within or to try and find ways, the idea of when you're checking to see if you've got a chick inside your shell, and you do this thing called ‘candle' where you hold the light to it, that I describe in the poem, and you like hold it to your ear and hear if there's movement going on inside. And you kind of, I don't know, I felt with a profoundly learning-disabled child that you always feel like you're doing that as a parent as well to see if what you're doing is, you know, if you're still communicating while you're trying to be a parent.  Natalie: Fantastic. Thank you so much for sharing that with us, Paul, both the poem and also your exploration of how you got to that point in writing that poem.  Tremendously powerful to kind of understand and hear about that experience.  Bobbie, if I can come to you. Paul referred to that project as kind of audacious, can you tell us a little bit about the origins of the Helix of Love but also why storytelling, especially through poetry, was so important for the EPPiGen Project?  Bobbie: Yes, of course, Natalie. But can I start by saying I was so pleased that you got Paul to speak for a while after because I always have to compose myself after hearing these poems because they really do hit so powerfully, however many times you hear them. And I think that is part of what we wanted to achieve with this project, we wanted to use innovative research methods, we wanted to be…  I love the word ‘audacious'; I'm going to borrow that.  We wanted to be audacious; we wanted to be courageous, and let me tell you, our Ethics Committee were a little bit worried about the sorts of things we told them we wanted to do. But we knew because we live and work in Brighton that the world is full of creative people and we'd already had such wonderful partnerships with people over the years, we knew that we could draw people into this project who would help us to work with this fabulous group of parents ,in a way that would give them, as Paul says, an opportunity to explore their own feelings and their own experience and share it as they wished.    In an earlier conversation with Paul, which he might find surprising that it's stuck with me so much, he used the word ‘extractive' and he said that he'd been involved in research before and looking back on it he had felt at times it could be a little bit extractive. You come in, you ask questions, you take the data away and analyse it and it might only be by chance that the participants ever know what became of things next. One of the real principles of this project was always going to be co-production and true collaboration with our participants, and the poetry project probably wouldn't have come about if it hadn't been for the passion of one of our participants who was sort of finding a love for poetry herself and said, “Can we try this next?” So, you know, it means so much to Rich and I that we ended up with this amazing book, but it's not our book, it's our poets', as we like to refer to them, book.   So, one of the things that we are so pleased about in this project is that our participants now have a variety of ways in which they can transport their voices into spaces that they previously found maybe alienating, challenging, and not particularly welcoming. And I think another wonderful upshot from this project has been how receptive people have been to the work. And it's a sort of commonly held myth that your average philosophy article has a readership of 3.4 people. Rich created a wonderful map to show how Helix has travelled round the world and touched thousands of people – I don't think that's an exaggeration – and we couldn't be more grateful for that as researchers because we feel as passionately about these subjects as our participants and it is they who have really got this project on the map. Paul, you were going to come in, I hope.  Paul: I feel like the one thing that this project really did was, I know PPIE is a phrase that's bandied round but this project kind of stripped that theme apart and took the ‘I' bit, this project is like built around inclusion and because it felt like, if we'd have just been jumping in a room with Dawn and told to get on with it, I don't think it would've worked as well. The idea that it was kind of curated by Bobbie and Rich, we very much felt like our hands were held through the process, and after them having had to kick down doors in the Ethics Department to be able to get the project through at all, it's like “What are you going to do to these poor parents?” having gone through that process themselves behind the scenes, then to kind of feel like we were guided through this process. And we were guided and held, and they were super-aware of all of us. And the fact that every time you tell these stories as a parent who's gone through them there's a cost. And we've had this discussion with the panel before and the communication group, about the fact that every time you come to a parent and say, “Tell us your story” there's a cost.   And so, they were aware of that, and they held that in both of their hands and so it couldn't have been anything other than this collaborative project by the time we'd finished.  Advert: The Genomics England Research Summit is fast approaching and registration is now open! Join us for this one day in-person event on Tuesday 17 June 2025. This year's agenda dives into rare condition diagnosis, cancer genomics, pharmacogenomics, therapeutic trials, and the impact of emerging technologies. Hear from leading experts and inspirational speakers as we explore the present and future of genomics and the latest research and technology from the Genomics England research community. Keep an eye on the website, genomicsresearchsummit.co.uk for all the details and to secure your spot. Spaces are limited, so don't miss out. We'll see you at the summit! Natalie: We're going to hear a clip from Lisa Beaton, a member of the participant panel at Genomics England, who shares what it has meant for her to take part in the project.  Lisa: It was an amazing opportunity. I had a huge sense of imposter syndrome actually when I as invited to join, because I was aware of some of the people who'd already taken part in the project and although I can bring lived experience to the table I don't really consider myself as a creative writer or anything like that, although I do enjoy it. When I first started in the group, we were just doing free-flowing writing. It was really cathartic, and I didn't expect that in any way, shape or form. To put pen to paper without necessarily having any strategy in mind, just letting the thoughts come out and ramble away, I didn't really know what was going to come blurting out onto my notepad, and reading some of it back was moving but it was frustrating. It was moving, it was everything really, that opportunity just as a safe space, knowing I didn't have to share it with anybody if I didn't want to but I could, and I could just, I suppose I would call it almost like a brain fart, it just rambled away and maybe it was a way of downloading some of the emotions that I was carrying.   As the project went on and we explored different creative mediums I really enjoyed that and found different skills that I wouldn't have thought about. And it was very thought-provoking, being able to go back and think about some of our very early experiences, which is, not that I've buried them but it's just you move on to deal with the here and now, and it brought me back to some of those very raw emotions of the first days which I think are, I hope, helpful to certainly the medical community in terms of thinking about how they talk to new parents going through similar situations. I was very grateful.  Natalie: Rich, I'd like to come to you now. As Bobbie and Paul have both mentioned, the outputs for this project have really spread far and wide and maybe beyond the kind of academic circles that you might typically think. I'd really like to hear from you about how you think the project has helped healthcare professionals, particularly really enabling them to understand a little bit more about what it means to be part of a genomic healthcare service and the journey that patients and families go through. Would you share a little bit about your experience in the project, particularly for healthcare professionals?  Rich: Yeah, I mean, that was one of the things that when Bobbie and I set out to do this, that was one of the real aims, was to sort of help healthcare professionals have a bit more of an insight into what it means to access genomic medicine services from a patient or family perspective. And, as Bobbie said, there were 2 ways we could have gone and done this; we could've done some sort of conventional social science interviews, written that up in a lovely social science or philosophy journal article and no one would've probably read it, but instead we thought about the power of the arts to actually change in terms of how we were sort of collecting and collating people's stories and then how we were sharing and disseminating those stories as well. And I think the medium by which stories are told affect the kind of stories that get told, as Paul was sort of hinting at earlier.    When we ask patients to tell us their story, you know, there's a level of expectation there about what people are being asked to say in a form in a way, and certainly we didn't get people in a room and say, “You must write about genomics.” So many of the poems in the collection aren't really about sequencing or big data, they're about these kind of much wider themes of everyday life. And I think that's been really powerful in allowing healthcare professionals to sort of understand for patients obviously genomics is really important but it's not the be all and end all of everything that's going on in their lives, you know, there are so many other pressures, so many other hopes and desires, and people want an opportunity to express some of those positive aspects of their life with their loved ones and it not just be medicalised all of the time.    Again, as Bobbie said, it's also opened up our research travelling really well and just become something that's really accessible for people to pick up and read through, and I've had conversations with healthcare professionals that have said, “Oh I read through the book of poetry and it's made me realise all of these things.” Language particularly has been a really prominent theme that people have reported, telling us they've learnt a lot about it, and thinking about how they write their letters and how they communicate with people. And obviously this isn't new, you know, bioethicists for years have been talking about the need to communicate very carefully, very precisely and in a caring way, but I think there's something about communicating those messages through a really powerful art form like poetry through patients' own words that allows clinicians and healthcare professionals to sort of really get the impact of that in a very, very powerful way.  Natalie: Thanks, Rich, really helpful insights there. I really want to pick up on your point about language and come back to Paul on that because I know that's a topic area that can often be, you know, hugely sensitive to families that the medicalisation, the terminology that's used, especially, you know, complex areas like genomics, coming back to this term we mentioned earlier about being sort of alienating. How have you found that the work through the EpiGen project and Helix of Love, has it potentially helped the way that families can think about the right sorts of language and enable health professionals to sort of approach some of these questions in a slightly more human way? Paul: Difficult to say. It's a very, very live topic all the time. There's like a backchat communications channel with the Genomics England panel where, because we all go along and do this thing, but we all share that genomics common thread in our lives. One parent was breaking their heart about the fact that they'd had sight of genetic science reports that basically described their child, and children like them as ‘lumped together' in a project, and she was gutted about it. And we all were as well, and we were all open-mouthed about it. The whole idea of kind of separating the science and the science language out from the people who are involved, it is our job, isn't it, you know, our job as the panel members is to remind people that those are people, not statistics. But it's a really live subject and the more people, the more professionals who can be reminded of that on a daily basis and the more we can find kind and open ways to deliver that message to professionals, and every single day that we do that makes a difference, I think. If one parent has to get less of a letter like that or one professional thinks more carefully about how they phrase stuff before it goes out the door, then that's one less parent who's got to go through that.  Natalie: Absolutely. And I'm thinking about that insight. I suppose the anticipation and the realisation to healthcare professionals about the impact of the way they approach things, the language they use, the kind of mindset they might adopt with parents and families, one really important aspect of the project was to do sort of preparedness and the idea that you should be able to anticipate and plan for and acknowledge some of the ethical challenges that might come through when you're dealing with questions of genomic healthcare where there may be lots of uncertainty, there may be a long journey to go through.   Bobbie, can I come to you to help us unpack this notion of ethical preparedness as a core theme for EPPiGen? Help us understand what that means in kind of simple terms and why does it matter for those who are working in the genomic medicine and healthcare space.  Bobbie: I think the way in which most people will have heard of this concept of preparedness is in relation to disaster planning. We know that some of the good things we try and do in life are also potentially fraught with challenges and difficulties just because of their complexity and because of the wide range of people and organisations that will be involved. Can we take this idea of preparedness and almost say, “You have a moral responsibility to be ethically prepared when, for example, you embark upon a really dramatic change in healthcare delivery or an introduction of fantastic new healthcare innovation”?    And genomics seemed to be the perfect case study for this. We then had to say, “What does that actually mean in practice?” And I think here we wanted to move away from the idea that you can ethically prepare people by putting a small albeit very expert and clever group of people in a room to write guidance and regulations, those things are needed and they're useful. But it's actually much more important to almost recruit everybody, to bring everybody up to speed, so that the ethical challenges aren't a complete shock to those who are delivering the service in the frontline, so that those who plan systems actually think whilst doing so of the ethical challenges that can be posed by the tasks they're attempting to achieve.    And I was a sort of founder member of the Ethics Advisory Committee at Genomics England, and it was so interesting in those early days because there were no patients, there were no participants. We were sitting alongside people whilst they designed and put in place basic processes, strategies and ethics was a part of that. And a really important part of that to me, at those meetings, was hearing what the potential participants had to say about it because, again, the Participant Panel was involved. And I found that those were my people, those were the people who were worrying about, concerned about the same things as I was.  So, I think to be prepared we have to take on the responsibility of giving people who work in ethically challenging areas opportunities to come together to acknowledge the complexity of the task, to share strategies and tools, but also, very importantly, to not become divorced from the people that they are attempting to serve, because in fact we feel that this part of our project, and our project is much bigger than this and we've done some fantastic things working with healthcare professionals, medical scientists, etc, etc, but this part of the project is an attempt to say, “We can better prepare families as well by ensuring that we tell them that their voices are valuable, that they're important, and they help rather than hinder healthcare professionals in doing their jobs.”  Natalie: That's a really important point around the idea that this approach can help, can be positive. Because I think sometimes you think about preparedness and, and quite often with ethics it's about risk, it's about, you know, “How do we avoid the risks?” but there's a very positive story to tell about taking a more preparedness-type approach to thinking through ethical complexities, challenges and so on, both for health professionals and, as you say, for families. I wonder if you could just talk a little bit more about the kind of positive aspects that that can bring to everyone in that genomics healthcare journey, both the health professionals and the families.  Because I think sometimes it's easy just to think that it's mostly about sort of avoiding the risks and the pitfalls, and that might be harder to engage with people if you take that sort of risk-based approach.  Bobbie: Yeah, it's an interesting one. I think the ability to confront risk and uncertainty is a sign of maturity. And we find medical students, for example, hate any sense of uncertainty; they want to be told how to do something and they want to know that they'll be able to do that thing and get it right. And our job is often to say, “Well it's not going to be as easy as that, in fact it might be impossible, and here's what you have to do instead and here's how you allow yourself to fail or to not achieve in the way that you want but still do something really meaningful for the people that you're caring for.”  So, I think there's that aspect of saying, “It's part of medical education, it's part of how we should think in organisations that wherever you take risks, wherever you try to push frontiers, blur boundaries…”  I mean, genomic medicine has done something really interesting in terms of blurring the boundary between scientific research and clinical care. Wherever you do these things there are going to be challenges but those challenges, they're fascinating, they're interesting, they can bring us together. If we've got a shared will to get through them, you know, to make things work, then it's enlivens what you're doing; it's not a barrier.   I sort of began teaching and working in the space of bioethics right back in the ‘80s, which is a shock to you, I'm sure, but in those days I'm afraid that ethics was seen as a block, a barrier, a hurdle that people had to get over or through. And I think there's still a sensitivity, and certainly, I myself have been sort of challenged on critiques that I have offered to say, “Oh that's a bit harsh.” But I think what ethics attempts to do now, and certainly through really putting a positive spin on this idea of working together to establish ethical preparedness in important spaces, is to show that actually ethics can be very facilitative, it can be very supportive, and it can help people. It's not a surveillance mechanism, it's actually another clinical tool and something that, you know, people should seek support around.  Advert: If you're enjoying what you've heard today and you'd like to hear some more great tales from the genomics coalface, why don't you join us on the Road to Genome podcast, where our host, Helen Bethell, chats to the professionals, experts and patients involved in genomics today. In our new series, Helen talks to a fantastic array of guests including the rapping consultant, clinical geneticist Professor Julian Barwell about Fragile X Syndrome, cancer genomics and the holistic approach to his practice. A genuine mic-drop of an interview. The Road to Genome is available wherever you get your podcasts. Natalie: Rich, if I could come to you thinking about that reframing, I suppose, in your own research practice as an early career researcher, whether you're seeing that maturity in approach in thinking about some of these really complex, knotty ethical questions in genomics, are you seeing a greater appreciation for those?  And where do you think you're going to take your research as a result of this project in that space?  Rich: Yeah, thanks, that's a great question. Yeah, I think so, and I think one of the things that's really been revealing in this is the appetite for this kind of work in the sort of genomics sector, an appetite for thinking about the sort of complex ethical issues, for engaging with kind of arts-based research, for sort of finding new language and new spaces to involve patient and family perspectives and stories and think about how we can learn from them.    I think in the highly scientific, highly technical space of genomics we often assume that everyone wants numbers and hard data but actually I think the way that this work has travelled, the amount of invitations we've had to sort of exhibit this work and talk to healthcare professionals and scientists about this work shows that there's this really rich appetite for thinking about this complexity and doing that work of ethical preparedness, as Bobbie's talked about, and I think it's fascinating. And I know a lot of the participants who joined in our project have also sort of had opportunities from being involved in our work and found that there are people that want to listen to their voices and hear from them and learn from them as well. So that's been really exciting, and I hope it will continue and I hope there's opportunities for much more interdisciplinary collaboration in the genomics space with philosophers, with social scientists with ethicists, with artists and, importantly, with patients.    Paul: You mentioned the idea that certainly the poetry at the very least has allowed those voices to get into different spaces, and I think when those things first started happening it was when we at least as the people who'd written the poems felt that there was a huge big impact from this stuff. And I wasn't the first one to read one of these poems out loud, and in a way the collection of poetry became bigger than the sum of its parts in a funny kind of a way. And I can't remember but somebody read one of the poems at a conference somewhere and they said at the end of it that you could've heard a pin drop, and it was just that thought that actually with a big audience expecting kind of quite dry subject matter about genetics, to have felt that moment where the poem got launched off the stage and then it impacted on the audience and then, the way they described it, you could almost kind of feel them describing the ripples of the poem just like spreading out amongst this kind of silent audience and everyone kind of taking this kind of mental sigh of like “Oh that's what it feels like.” And the idea of that happening was when, for me anyway, when we knew that what we'd created was bigger than the sum of its parts and had its own legs, Bobbie and Rich had been the Dr Frankensteins of this kind of amazing, beautiful monster. Natalie: Obviously the poetry's got into your soul, Paul, the metaphors are fantastic. But just to make sure we bring in even more participant voices and perspectives into this we're just going to hear now from Jo Wright, who's another member of the participant panel, who's going to share what the project and the participant in it has meant for her.  Jo: So being part of the EPPiGen Project, it helped me to find my voice in an area that was relatively new to me, and also it was a way to take control of my own experiences rather than feel like I'm being swept along by a lot of systems.    And there were things that I really value that I thought contributed to making the project so successful. One was that they asked the question “What is this experience like for you, the experience of being part of a research project, the 100,000 Genomes experience of waiting, the experience of having your data in the library?” And no one had asked that before. You go to your appointments and you're in the system and, you know, it's kind of, everyone was finding their way to some extent because it was new for all the clinicians as well, but the fact that they asked, because no one asked that before, I don't have an outlet for that.     And then the other thing was that it was completely open so there was no research interview or questionnaire to answer, no expectation about what it was going to look like at the end. And I think working that way really strengthened the connection between us as parents of children with rare conditions and then also our relationships with Bobbie and Rich as the researchers and with the wider clinical community when they started to see our work and respond to it. So it was a way to understand people's individual experiences but it also made us feel connected and empowered through sort of like shared human experience, and that could be between us as the participants but also shared experiences between us and the researchers or us and clinicians and scientists that were looking at what we've done.  Natalie: So we've heard lots about the experience of participating in this fantastic EPPiGen Project, the kind of creative storytelling methods, the audacious methods that have been used, and some fantastic impacts beyond the kind of typical what could be quite dry sort of academic circles that this kind of work has spread out to.  I'd be really interested to hear from each of you about the takeaways, what you've learned, what's changed for you and what you'd like our listeners to really understand about this project and the work, and the sort of outputs from it and the ways it might continue to have resonance and impact going into the future, so whether people are patients, families, clinicians, researchers. What would you like people to remember and what's affected you most about the project?    Bobbie, I might start with you.  Bobbie: I think we have to always be very careful when we get excited about something - and the ‘we' here are the people in the health community, the education community, etc - to remember. As Rich said earlier, that this is only ever going to be quite a small part of other people's lives. You know, we've all devoted big parts of our careers, our enthusiasm, to thinking about genomics, to working in this space. I would really like people to pick up the book and work to understand a bit better about the everyday lives, the hopes, the expectations, the fears of the families who may or may not get a diagnosis, may or may not get on a good treatment path, all of whom want the best for themselves and everybody else from this venture.    But, as Paul knows better than most, it won't come to everybody, and we don't want anybody to be forgotten along the way. The people that signed up for Genomics England as participants were pioneers alongside medics and the scientists, and in these early years we want their experience to be recognised, and their experience goes much beyond their interaction with Genomics England and, unfortunately, all the work that we've produced shows how many challenges families have to face to secure a good life for their children, and I just want us all to just keep that in mind.    Natalie: Incredibly important to maintain that focus, that awareness. And, as you say, Bobbie, there's an interesting balance where there is a need for the drive and the innovation and the ambition to help ensure that we are pushing at the forefront of medical research but not leaving people behind and not ever forgetting, as you say, the experience of people who are actually at the forefront of this research and of genomic healthcare.   Paul, could I ask for your perspectives on this, and particularly how you see patient voices being involved in the future of genomic medicine, especially in light of your experience in the EPPiGen Project?  Paul: I think the biggest surprise and biggest takeaway for me was the project gave me, I mean, I can't speak necessarily for all the other poets, but you only need the evidence in the book itself. They gave us the tools, the project gave us the tools to find a different way to get at all of those things inside of all of us who were going through that experience. So it gave us a way to talk about all of those things and a way that was I suppose slightly removed to start with. It's almost like a different lens or a different filter to give us a way to look at all those things, almost like a magnifying lens; you can either hold it really close to your eye and it gives you like a blurry view of the world that goes on and you can relax behind that and find a way to explore things in a funny way or an interesting way, but you can also go really close into the subject and then you've got to deal with the things that are painful and the things that are difficult and the things that have had an impact.    But, because you've got that tool and you're used to using it or you're familiar with using it, it then gives you that safety. That's how I felt about it anyway, it was a massive tool to be able to get behind all of these things that I didn't even know I was feeling, or I knew they were making me uncomfortable, but I didn't know what they were or what name to give them. So the poetry gave us a chance to get behind all of that. Having read the poems, it feels like it's that for everybody but obviously you'd have to speak to them to know, but it certainly felt like that for me.  Natalie: And, Rich, your perspective.  What are you taking forward from the project, so what would your sort of key takeaway be?  Rich: I think it shows what is possible under that PPIE acronym. And there are many ways to do that involvement and engagement, it doesn't have to be a sort of dry tick-box exercise, there are much more creative ways to bring people's lived experiences and perspectives into conversations with genomics. So really, I suppose it's a call for other people to explore working in this way as well and think about what other kind of creative outputs could work here. I mean, we've had huge success, and I think a really interesting impact from working in this way.    And certainly as an early career researcher it's been really formative in my sort of academic journey, you know, reaffirmed that this is the kind of work that I want to do, working in this really co-productive way. And I think it's possible, it can be done, and, you know, ultimately it's just been a real privilege to do this kind of research, to sort of be trusted to sort of hold a space together for sharing people's stories and give people a platform to share some really powerful profound stories. And going back to what Paul was saying earlier, I think he hit the nail on the head, as he very often does, this is about evoking people's experiences, not just explaining people's experiences, and allowing those stories to travel.  And we don't know where stories will travel, we don't know how stories will travel, we don't know how stories will be received, but we know that they do sort of travel and they do have legacy and they stay memorable to people, they have emotional resonance. So, the impact of this work can often be hard to sort of pin down really specifically, but we know those stories are out there and people are listening and changing their practice as a result.  Natalie: We'll wrap up there. I'd like to thank our guests, Paul Arvidson, Professor Bobbie Farsides and Dr Rich Gorman, for joining me today as we discuss the EPPiGen Project. We heard some powerful insights from patients and families about their experiences, and why ethical preparedness is so important in the context of genomic medicine. If you would like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app. Thank you for listening. I've been your host, Natalie Banner. This podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand. 

I'm so excited about this collab with Rare Patient Voice! Stacey and her heart for this organization is incredible. Please tune in and hear how you can get involved in rare disease studies, including Fragile X Syndrome!

As of February 2025, the Generation Study has recruited over 3,000 participants. In this episode of Behind the Genes, we explore what we have learnt so far from running the study and how it continues to evolve in response to emerging challenges. The conversation delves into key lessons from early recruitment, the challenges of ensuring diverse representation, and the ethical considerations surrounding the storage of genomic data. Our guests discuss how ongoing dialogue with communities is helping to refine recruitment strategies, improve equity in access, and enhance the diversity of genomic data.  Our host Vivienne Parry, Head of Public Engagement at Genomics England, is joined by Alice Tuff-Lacey, Program Director for the Generation Study; Dalia Kasperaviciute, Scientific Director for Human Genomics at Genomics England; and Kerry Leeson Bevers, CEO of Alström Syndrome UK. For more information on the study, visit the Generation Study website, or see below for some of our top blogs and podcasts on the topic: Podcast: What do parents want to know about the Generation Study? Podcast: How has design research shaped the Generation Study? Blog: What is the Generation Study? "We always have to remember, don't we, that if people say no to these things, it's not a failure to on our part, or a failure on their part. It's just something they've thought about and they don't want to do, and for all sorts of different reasons. And the other reflection I have about different communities is the ‘different' bit, is that what approach works for one community may not work for another, and I think that that's something that's going to have to evolve over length of the study, is finding the things that are the right way, the most helpful way to approach people." You can download the transcript, or read it below.   Vivienne: Hello and welcome to Behind the Genes.    Alice: “And this is quite an exciting shift in how we use whole genome sequencing, because what we are talking about is using it in a much more preventative way. Traditionally, where we've been using it is diagnostically where we know someone is sick and they've got symptoms of a rare condition, and we're looking to see what they might have. What we're actually talking about is screening babies from birth using their genome, to see if they are at risk of a particular condition, and what this means is this raising quite a lot of complex ethical, operational, and scientific and clinical questions.”    Vivienne: My name's Vivienne Parry, and I'm Head of Public Engagement here at Genomics England, and I'm your host on this episode of Behind the Genes.      Now, if you are a fan of this podcast, and of course you're a fan of this podcast, you may have already heard us talking about the Generation Study, the very exciting Genomics England research project which aims to screen 100,000 newborn babies for over 200 genetic conditions using whole genome sequencing.      Well, we've got more on the study for you now. What we're doing to make it both accessible and equitable for all parents-to-be, and our plans to ensure that we continue to listen to parents, and perhaps in future, the babies as they grow up. We'll chat, too, about emerging challenges and how we might deal with them.    I'm joined in our studio by Alice Tuff-Lacey, the Programme Director for the Generation Study, and Dalia Kasperaviciute, Scientific Director for Human Genomics, both from Genomics England, and we're delighted to welcome Kerry Leeson-Bevers, Chief Executive of Alström Syndrome UK. And I'm just going to quickly ask Kerry, just tell us about Alström Syndrome and how you're involved.    Kerry: Yes, so Alström Syndrome is an ultra-rare genetic condition. My son has the condition and that's how I got involved. So, the charity has been around now since 1998, so quite a well-established charity, but as part of our work we developed Breaking Down Barriers, which is a network of organisations working to improving engagement and involvement from diverse, marginalised and under-served communities as well.    Vivienne: And you wear another hat as well?  Kerry: I do. So, I'm also a member of the research team working on the process and impact evaluation for the Generation Study. So, I'm Chair of the Patient and Public Involvement and Engagement Advisory Group there.    Vivienne: Well, the multiply hatted Kerry, we're delighted to welcome you. Thank you so much for being with us.      So, first of all, let's just have a sense from Alice Tuff-Lacey about this project. In a nutshell, what's it all about, Alice?  Alice: Thanks Viv. So, I think in the last few years we've seen some really big advances in the diagnoses of rare diseases through things the Genomic Medicine Service. But we know it takes about 5 years often to diagnose most of these rare conditions. What we also know is that there are several hundred of them that are treatable, and actually there can be massive benefits to the child's health from diagnosing and treating them earlier. I think a really good example of this which is often talked about is spinal muscular atrophy, which is a particular condition where there is a genetic treatment available and there is a really big difference in families from those babies where the condition was identified later on, versus their brothers and sisters where they were identified early because they knew there was a sibling that had it and they were given that treatment.     What we think there is a huge potential opportunity to identify these children from their genome before they get ill, and this is quite an exciting shift in how we use whole genome sequencing, because what we are talking about is using it in a much more preventative way.  But this is a really different approach to how we've been using it so far, because traditionally where we have been using it is diagnostically where we know someone is sick and they've got symptoms of a rare condition and we are looking to see what they might have, what we are actually talking about is screening babies from birth using their genome to see if they are at risk of a particular condition. And what this means is, this raises quite a lot of complex ethical, operational and scientific and clinical questions.      So the aim of the Generation Study is really to understand if we can and should use whole genome sequencing in this way to screen for rare conditions in newborn babies. We've been funded by the Department of Health and Social Care to do this over the following years, and the way we'll be doing this is by a national study across a network of trusts in England where we are aiming to recruit about 100,000 babies and screen them for rare treatable conditions that we know present in childhood. And really the aim of this is to understand if this will work and how it will work, and to generate the evidence to allow the NHS and the National Screening Committee to decide if this could become a clinical service, and that's very much the primary goal of the study.      Beyond that, however, there are some other aims of the study, and we also consent mothers to ask permission to retain their genomic data and to link it to the baby's clinical data over their childhood, and we'll be providing access to this to researchers in the de-identified way in our trusted research environment. And this is to really understand if that data can also be used to further generate information around other discovery research, but also critically understand that the motivations for parents involved will be very different, and we need to think very carefully about how we engage and work with the parents of the babies going forward about how we use their data.    Vivienne: And the super exciting thing is we've started recruiting. How many mothers have we recruited?  Alice: So, we've recruited over 3,000 to date, and it's building every day and every week really. And it's really exciting because we see more and more trusts coming online and the study building and really starting to learn from the experience. And every week and every month, we're learning much more about how this process works, what the impact it's having, and kind of what we need to do over the coming few months and years to deliver it.    Vivienne: And we did a huge about of work at Genomics England before the study even started, to try and find out what people wanted. So, we found out, for instance, that people didn't want to know about late onset conditions, they did want to know about conditions where there was a treatment, and they wanted things that could be done for their babies in childhood. So, we had a really clear steer from the public about this project before we even started. So, how are we continuing to learn from the people who are involved in the study and the public? I mean Kerry, you've been involved in this aspect. We need to listen, don't we, to find out what's going on?    Kerry: We do, we do, and I think it's really encouraging to see the public dialogue and the amount of engagement work that was done there to kind of identify what some of those areas were, but it's really important that we don't stop that engagement there. It's really important to continue that, and I know that we've got quite a diverse group for our Patient and Public Involvement Advisory Group and the Evaluation Team, and one of the things they're really interested in is how we're going out there to speak with communities. You know, we can't just be reliant on the media, and press releases about the study. We need to actually go to communities and have these conversations so that people can have a conversation within an environment that they feel safe and confident with the people that they feel supported by as well.    So I think it's really key that we continue to ask those questions but also learning from the evaluation and, as we go through the process, of speaking to the patient organisations as well who support families that suffer from some conditions that we plan to identify through this study, and learn what some of their challenges are as well. You know, do they feel equipped to be able to support parents that are getting a diagnosis? As well as obviously their participants and the general public, to make sure that we're aware of attitudes and perceptions as the study goes along.    Vivienne: Because there's always a danger with this kind of study that it's people who are health literate who end up being involved. Whereas some of the people on whom the burden of rare disease is greatest may not either feel that they can access, or would want to access, this study. So, what are we doing there? How are we listening to people?  Kerry: When we are looking at recruitment as well, like you say, you know this is a research study and when we look at history and when we look at participants in research studies, we very rarely do you get a diverse representation of people in these types of studies. So, it's really important that those extra efforts are made really in terms of recruitment to get the right sample of people involved. And I know at Genomics England, that they have invested their time and money in terms of interpreters and translating materials and things, but actually it's the sites and recruiting people that need to be well resourced in order to use recruitment strategies, because if we're just looking at posters in waiting rooms, for instance, you're going to get a particular demographic of people that will respond to those kind of posters, such as people who don't speak English as a first language, it would be really difficult sometimes to read those kinds of posters and then to ask questions about that.     We need skilled people within sites that are recruiting who have got cultural competence who can have those conversations, address some of those areas, some of those concerns so that we can get that diverse representation.    Vivienne: So, there's a whole piece about equity of access for everybody and Dalia, perhaps you can explain why this is so important, scientifically as well as ethically? There's another piece about making sure that we get a full diversity represented.    Dalia: We know that some of the conditions are more common in certain populations or certain communities. We also know that some of the conditions are caused by certain variants in one population but not in the others. And these genetic causes even of the same condition can vary between different communities and different genetic ancestors.  On the other hand, our knowledge about the conditions and the genes, and the variants which cause them, come a lot from what we've seen before. Where we've seen those variants in the patients with the disease, and importantly where we've seen those variants in control populations where these individuals which don't have conditions.      Therefore, if we lack the diversity in our datasets, we would not know about all the diverse reasons of why conditions can be caused, or how it progresses, or what it might mean for individuals. And we would not be able to have equitable testing, or we wouldn't know whether the test works for everyone. If that happened, we might be in the territory where we can't detect or don't detect as well all the conditions across different individuals. But also, we may be having more false positive results and create more anxiety for families as well as burden for healthcare system.    Vivienne: So, are you saying, Dalia, that actually sometimes we might get a false positive, or indeed a false negative, simply because in that person, the condition which we think is usually caused by a particular change, they've got a slightly different change and so therefore we're not picking it up.  Dalia: Indeed, but it's one of the possibilities. If, let's say, all our knowledge about certain genes came from a limited number of individuals, seeing a new variant in another individual might seem that it's something really rare and never seen before and it's potentially changes how the gene functions, we would say; “oh that's maybe something which causes the disease,” when actually it can be that it is a benign variant, just a normal variation which is very common in another part of the world, it's just that we don't have enough data to know about it. So, we need to be aware of those risks and take it into account when we interpret the variants.      And, we also need to be transparent when operating in the environment. There was historical and investment in the diversity in research and our data sets still are not as diverse as we would like to be. It's shifting, the balance is definitely shifting in the last few years. A lot of effort is being done but the only way to shift the balance forever and make that genomic medicine work for everyone is to really actively engage those individuals and involve them in the research, and taking all the effort that Kerry was talking about.    Advert: The Genomics England Research Summit is fast approaching and registration is now open! Join us for this one day in-person event on Tuesday 17 June 2025. This year's agenda dives into rare condition diagnosis, cancer genomics, pharmacogenomics, therapeutic trials, and the impact of emerging technologies. Hear from leading experts and inspirational speakers as we explore the present and future of genomics and the latest research and technology from the Genomics England research community. Keep an eye on the website, genomicsresearchsummit.co.uk for all the details and to secure your spot. Spaces are limited, so don't miss out. We'll see you at the summit!  Vivienne: Alice, that goes back to this thing about holding the genomic data, because you need to hold the genomic data because the thing about genomics as always, you need to know what happens next. So, for instance, if somebody had a negative result and then later developed a condition, you need to be able to go back that data in order to find out what the problem was.  Kerry: That's right. You know, as Dalia talked about, we know that there is a risk within the study and we try and be clear about that in our participant information that there are some babies where they may have a genetic condition that we will need not find it, and others where we might find something that doesn't go on to be the actual condition. And we need to kind of monitor those in different ways.      So in particular in the cases where, if we've returned a result where we don't think we suspect a condition and a baby goes on to develop a condition, it's quite complex how we monitor that, and we're trying to go for a multi-track approach, and I think a lot of the benefits is some of the infrastructure that Genomic England already has that we can utilise.  So, some of the foundational things we've put into the study to help support the approach are things like the ability to contact parents regularly so we can actually work with them to find out over time if their babies develop conditions.    As you say, ability and consent to access the clinical data about the baby so that we can then access national data sets, and then we can then potentially monitor to see if babies seem to be showing signs of developing a condition. And also, really continuing to work with a network of clinical specialists where we've work quite hard over the last couple of years to build that kind of network and engage with them about the study, because they'll be the ones who the babies will come to if they develop those conditions. So, they are a really good route to us finding out, whether or not there are babies who have been part of the study who then go on to develop a condition.     And I think the reality is that this is a really complex process and it's something that even traditional screening programmes really struggle with, and that's why this multi-pronged approach is really important, and why also we see that this approach will evolve over time, and at the moment, the important thing is we've worked hard to put the right foundations in to allow us to do this type of monitoring, and to really evolve that approach as things develop and as more things come along potentially where we can invest in.    Vivienne: So, it's interesting, isn't it, because I guess that some parents would think that if you get a false positive or false negative, that it means that the test is at fault. And actually the accuracy of the test is good, but what we may have an issue with is that there is something else causing the problem that we don't yet know about. So, a big part of this project is giving much, much more information about the causes of conditions.    Alice: Yes, and I think that's also why the discovery research aspect is really important, the fact that we consent for that ability to hold the baby's data. So not only will we want to use it for the evaluation, but as I mentioned at the beginning, we have asked for parents to be able to allow us to link it to clinical data which then allows us to track over time and find out more information, because it's always the quality of the information we know that will help us in the future to identify these conditions, so the more we can generate potential information, you know, the more we will learn as a society.    And so it's actually quite an altruistic thing we're asking of parents, and that's something we recognise and that's why it's also important we think about, how we continue to engage with the parents and the baby over their lifetime to remind them that we're holding this data, but also to understand what their concerns and feelings are about us holding that data and how we're using it for that broader research.  Vivienne: And that's very much what you're involved in, isn't it Kerry?  Kerry: Yes, and I think sometimes in some ways that may offer some reassurance to parents as well, to know that's there as a reference point if things do develop over time, but I know that one of the things we're looking at as part of the evaluation, and the PPI Group we're involved in, is looking at the experiences of patients through this journey because actually it will create quite a lot of uncertainty.      As a parent of a child with a genetic condition, that uncertainty really is one of the hardest things to learn to live with. So at that early stage, one of the things we're looking at is that experience, how much support people have received, whether that has an impact on the parent and their child and their on bonding and their experiences and things like that, and I think it is important that we do that, but I think also having those references, where you're able to go back and ask those questions, that's really important that the support is in place, and that pathway really for parents to know where to go to. Because sometimes, although we may arrange to have calls at regular intervals and things, sometimes the questions of parents don't necessarily come at the time when they are having a telephone call. They come really late at night when there's nobody to pick up the phone, so having as much information as we can available, and those support structures in place, is really key.    Vivienne: We all start off these projects thinking that they are going to go in a particular way, but actually there's a lot of flexibility in this study, isn't there, Alice?  For instance, we will be looking at all those false positives, false negatives because we need to learn from that. We will be, perhaps, changing our approach as we go on if there is something that isn't working out. Is that what we're doing?  Alice: Yes, I think what we have recognise is it is a study and therefore that involves learning by it's very nature, and that's why partly we're working with external evaluation partners that Kerry's involved with, but also why we invest in a lot of things internally. Like we do a lot of user research with our midwives and our participants, and also potential participants. Because, actually we don't know the answer to this. No one's done this before, and so this is about all of us really learning, and learning in the right way and continuing to do that throughout the study, but also more importantly capturing that information and making sure that at the end of it, we then have some understanding of if we were to see that it's right to deliver this as a clinical service, what that might actually involve.      But also, even if we get to that point, I think beyond that we will still continue to learn over time and that's again why that long enduring consent is quite important, because we can then continue to maintain that long term evaluation and continue to maintain that long term potential to help further further research. And so that's the thing where actually we'll be learning for the next 10-15 years, really what the Generational Study has learnt, and actually what we have achieved through it.  Vivienne: I just want to move back to something that you mentioned, Kerry, about conditions that we're looking for, and there were a lot of very specific things. I've said that what parents wanted, but there's also some scientific things, and Dalia might want to come in here, that these are conditions that we pretty sure that if you've got the particular genetic change, that you will get the condition – something called penetrance. So, you know, we're not leaving people with a lot of uncertainty. But, how will we go about assessing new conditions as part of this study, or are we just on the ones that we're on at the moment?  Dalia: So, we started from the things we understand the best and we know how to detect them and we know how to confirm them because the tests that we are doing in Genomics England is a screening test, it will not be a definitive answer whether you have or you don't have a condition. Anyone which will get a positive result will be referred to an NHS specialist clinician for further assessment. And some of those positive results turn out not to have the conditions and some of them will have, and they will have their treatment pathways. So, we're started to very cautiously, and that's what came from public dialogue, everyone was saying that; “you need to be really cautious, we need to see that it works for the conditions that we understand well”.     But as a starting point, as we learn more, we're learning of how could we expand that list.  What would be acceptable for public. Maybe some conditions will have an experimental treatment, which currently would not be included in screening but as treatments evolve, at some stages maybe there will be opportunities to include some conditions in the future.      As our science evolves, we keep assessing the new conditions and seeing can we include them, would it be acceptable to parents, would it be acceptable to the healthcare system, and one of the things about screening it's really important not to cause harm. There are a lot of benefits in screening but if we didn't do it cautiously, it also has some risks, and we need to be very careful about it.    Vivienne: Now Kerry, there are lots of parent groups who will come along to us and say; “oh you must include this condition,” but perhaps there isn't yet a treatment, or there isn't a pathway in the NHS that will help people get what they need. And I guess if we try to include too many conditions, we would actually undermine trust.    Kerry: So, the patient organisation, our condition, Alström Syndrome, isn't included in the list. For our condition, there is no specific treatment although we do have a highly specialised service, and it is very important to get early diagnosis because children can develop heart failure and there are symptom-specific treatments available there. But I get the reasoning why there needs to be a specific treatment and the need to include just a smaller group at the beginning, but our hope as with I'm sure a lot of other patient organisations, is that our condition will be added at a later time if it is found that this is something that would be acceptable in routine care.    Advert: If you're enjoying what you've heard today and you'd like to hear some more great tales from the genomics coalface, why don't you join us on the Road to Genome podcast, where our host, Helen Bethell, chats to the professionals, experts and patients involved in genomics today. In our new series, Helen talks to a fantastic array of guests including the rapping consultant, clinical geneticist Professor Julian Barwell about Fragile X Syndrome, cancer genomics and the holistic approach to his practice. A genuine mic-drop of an interview. The Road to Genome is available wherever you get your podcasts.  Vivienne: Let me move on to another aspect of this study. These are babies, and we are holding their genomic information but at 16, they will be able to decide whether they want us to continue holding their genomic information. Alice, is that very much part of this programme to think about what we're going to say and how we're going to engage those 16-year-olds?  Alice: Yes, it very much is. What I always say, because I get asked this question a lot, is that I don't think we can pre-judge what that looks like. Because I look at my children, and certainly their lives are very different from my childhood, and I don't think we can imagine exactly what our babies will look in 16 years and what that world looks like. I think the important thing is many of things we are trying to do is that we lay the right foundations in place, and part of that is ensuring that we continue to think about how we engage with young people as the study evolves and over time, so that we understand what the world is looking like from their perspective.      But also, how do we equip the parents to talk about the fact that these babies are part of the study to them? What does that look like? How can we support them? And that's very much something we want to be looking at in the next year, really working with parents from the Generation Study to understand how best we can do that so that they can have some of that conversation for themselves as well. I think we can't pre-judge exactly how we need to talk about them and also not think it's just one thing. We need to evolve and work with the children as they grow up, and work with their parents to equip them because, as I said, we don't really know how they're going to access information in the future. You know certainly TikTok didn't exist when I was a child, and so that's what we've got to think about is what's the best avenues or forums to really engage properly with them as they grow.  Vivienne: Kerry, what other concerns to parents have that we're learning now?    Kerry: I think the concern is that when treatments are being developed, that they are not necessarily being developed for the whole population. They're often being developed for sub-sets of population because we don't have a complete dataset. And when you think about people being involved in research, people feel that they are being left behind because their data is not necessarily represented within there, it doesn't reflect their community, and it's not being discussed within communities, the different research opportunities and things have been available, I think it's the fact that we're not investing enough in community engagement and dialogue to explain more about genetics.   I think technology has advanced at pace. As a parent of a child with a genetic condition, that is very encouraging to see that, but I think sometimes the support and the information is not necessarily keeping up, so we're not having those open conversations really about genetics and genomics, and I think that's one of the things I hope that this study will really lead to, that it will now become much more part of everyday conversation.   Because often, when you have a child with a genetic condition, you first hear about a condition, the way you take in that information and ask questions is very different than having a conversation with the general public about genetics. When you're concerned that your child may have a condition or you may have a condition yourself, you're in a completely different mindset. So, the hope is that that dialogue will open so that people will be able to ask questions to learn more about the projects and things that are out there and available so that people are included and can take part in research if they want to. But it's important to remember that not everybody will want to. It's about being given informed choices and to do that we need to make sure that the support and the information is appropriate, inclusive and accessible.    Vivienne: We always have to remember, don't we, that if people say no to these things, it's not a failure to on our part, or a failure on their part. It's just something they've thought about and they don't want to do, and for all sorts of different reasons. And the other reflection I have about different communities is the ‘different' bit, is that what approach works for one community may not work for another, and I think that that's something that's going to have to evolve over length of the study, is finding the things that are the right way, the most helpful way to approach people.   Kerry: I completely agree. I think it's like you say, if people say no, that is completely their right to do so as long as they're saying no when they've been given the information to be able to really take that on board, think through, consider it and then make an informed decision. I think often people say no because they've not been given the right information to be able to understand what is expected, so they've not necessarily been given the opportunity. And I think we all want good outcomes for everybody. That doesn't mean delivering the services in the same way. Sometimes we need to deliver services in different ways because often services aren't very accessible for some communities to be able to access. So sometimes we need to make changes, adapt, to make sure that everybody has the same opportunities to the same outcomes.  Vivienne: We are constantly re-evaluating, rethinking, re-engaging to try and make it the best we can. Whether it's with different communities and different approaches. Whether it's with constantly assessing people who've had false positives, false negatives and finding out why that is the case. And in the future, I think this will have some really major effect.  Dalia, you're the scientist amongst us today. Tell us what you're hoping for from this study in science terms.  Dalia: So, first of all, we want to find the babies which we can treat before we develop symptoms, before we get ill, so that we can have more fulfilling lives. That's the bottom line. But we're doing that, we also will learn about the conditions. We'll learn a lot about the natural history of the conditions. What happens when you detect it before baby gets ill, then you start treatment, and how does it work in the diverse communities and diverse populations that we've talked about. Are there are any differences based on people's ancestry, but not just ancestry, about their lifestyle, about anything else which can affect how disease develops, or how the care or treatment goes.      So, that's kind of the bottom line. The top line and now our ultimate aim, probably many years from now, would be that we can detect variants of genes or conditions before they develop, and we can create treatments for them before our children get their conditions.  That's something that the science community is very excited about. I think we're quite a few years from that, but that's where we hope all this will be heading in the future.    Vivienne: It's really becoming a possibility, but the science is only the first part of it. It's the human interaction. It's the how it lands with people. It's how they feel about it. It's how they trust it. And these are all the things that we're really working on at Genomics England to make this study not just a scientific success, not just a success for the NHS, but also something that is really meaningful and important and valuable and trusted for people having babies. Would you agree?  Alice: Yes, 100%. I think, just to come in there, Viv, I think we've talked a bit about the importance of public trust and being the foundations of what we do, and I think that's something that Genomics England's always held true to itself, but I think for the purpose of the Generation Study, it's been one of kind of the foundational principles from the beginning, and I think Kerry and you have touched upon some really important themes today about how it's not a ‘one size fits all' approach. And I think very much that piece that we touched on a bit about, kind of, how do we make this accessible to everybody, we see it very much as not a ‘one size fits all', and so we've been trying lots of different things to really tackle that, and evolving the approaches which, as you said, that's where the flexibility comes in.      My hope for the next 12 months is that we can really, now that we've got the study up and running, work a lot with the some of the regional networks, the Genomic Medicine Service alliances who are working at the regional level, and the recruiting trusts, to really explore different approaches and work out how we can support them to engage with the communities in their areas, because they're the ones who will understand who they are, and our role is to really try and provide, as Kerry highlighted, the tools of support to allow them to do that, and to try and make sure that we can make this as equitable as possible in terms of people being able to at least understand the studies here, get the information in the appropriate way, and then as we have also talked about, making their own minds up about whether this is the right thing for them to be part of.    Vivienne: So, the final question for you all is if I'm a mother-to-be, where can I find out more information. Let's start with you, Kerry.  Kerry: Well, from the Generation Study website, there's information there. Midwives, GP practices, obviously they're often going to be your first port of call, so I'm hoping that they feel equipped to be able to answer those questions and to signpost people to one of the trusts that are involved.    Vivienne: And we've also got a Genomics 101 episode where we answer some of the frequently asked questions, and I think there are at least 2 or if not 3 separate episodes from Behind the Genes, which people can look for which look at different aspects of the project. Anything else, Alice, that we need to know?  Alice: So, Kerry highlighted it, the Generation Study website is a really good starting point, but that's a good place to also find out what trusts are involved because it's also important to know that this is not available in all trusts in England at the moment. We have a network and it's growing, and it is all around England, but the first place to start is, kind of, is it in your local trust?  And then from there, it's then engaging with your trust and hospitals where there will be information, and the midwives are prepared to kind of talk to people.  So those are, kind of, the good first places to start.    Vivienne: Well, we're going to wrap up there. It's been so good talking to you all. So, thank you to our guests Alice Tuff-Lacey, Kerry Leeson-Bevers, and Dalia Kasperaviciute for joining me as we talked through how the Generation Study is continuing to evolve as it responds to emerging challenges. Now, if you would like to hear more about this, then please subscribe to Behind the Genes on your favourite podcast app and, of course, we hope that you would like to rate this.  Because, if you rate it, it allows more people to see it and more people to get enthused about Behind the Genes, which we love. It's available through your normal podcast apps. I've been your host, Vivienne Parry. The podcast was edited by Bill Griffin at Ventoux Digital, and produced by Naimah Callachand at Genomics England. Thank you so much for listening. Bye for now.  

In this conversation, Dr. Kasey Bedard discusses Prader-Willi Syndrome (PWS), focusing on its genetic basis, symptoms, and the importance of early intervention. She emphasizes the significance of dietary management, particularly in addressing hyperphagia, and explores behavioral challenges such as skin picking and emotional regulation. Dr. Bedard highlights the role of parent training programs and community support in managing PWS and the need for collaboration among medical providers. The discussion also touches on residential care strategies and the future of research and treatment for individuals with PWS. Continuing Education Credits (https://www.cbiconsultants.com/shop) BACB: 1.5 Learning IBAO:  1.5 Learning QABA: 1.5 General We also offer certificates of attendance! Follow us! Instagram: https://www.instagram.com/behaviourspeak/ Bluesky: https://bsky.app/profile/benreiman.bsky.social.bsky.social LinkedIn:  https://www.linkedin.com/in/behaviourspeak/ Contact: Dr. Kasey Bedard kasey@pwseducation.org https://www.pwseducation.org/ Links: Prader-Willi Association of America https://www.pwsausa.org/ Jennifer Miller - Pediatric Endocrinologist specializing in hyperphagia https://endo.pediatrics.med.ufl.edu/profile/miller-jennifer-6/ Mike Tan - Pediatric Dietitian https://www.linkedin.com/in/michaeladamtan/ Foundation for Prader Willi Research https://www.fpwr.org/ Articles Referenced: Bedard, K. E., Griffith, A. K., Ulm, D., Strittman, M., Krukowski, K., Eaton, A., Rone, A., & Cardon, T. (2025). Evaluating the Impact of PWS Smart-Start: A Behavior Analytic Caregiver Training Program for Prader-Willi Syndrome. Journal of Positive Behavior Interventions, 27(1), 26-38. https://doi.org/10.1177/10983007231200535 Bedard, K.E., Griffith, A.K. & Krukowski, K. Caregiver-Implemented Behavior Analytic Treatment Package for Skin Picking in PWS: A Pilot Study. Adv Neurodev Disord (2024). https://doi.org/10.1007/s41252-024-00393-2 Bedard, K.E., Pacha, D., Griffith, A.K., & Ward, S. (2024). Prader-Willi Syndrome: A primer for school psychologists, Children and Youth Services Review, Volume 163, https://doi.org/10.1016/j.childyouth.2024.107775 Bedard, K.E., Griffith, A.K., Lister, M.A. et al. Behavioral and Dietary Management for Adults with Prader–Willi Syndrome in a Residential Setting. Adv Neurodev Disord 5, 93–101 (2021). https://doi.org/10.1007/s41252-020-00185-4 Behaviour Speak Podcast Episodes On Other Genetic Syndromes Episode 6 Behavior Analysis and Down Syndrome with Nicole Neil https://www.behaviourspeak.com/e/episode-6-down-syndrome-and-behaviour-analysis-with-dr-nicole-neil-phd-bcba-d/ Episode 27 Val Saini shares some of his research on DiGeorge Syndrome https://www.behaviourspeak.com/e/episode-27-translational-research-digeorge-syndrome-and-a-little-dash-of-metacontingencies-with-valdeep-saini-phd-bcba-d/ Episode 39 Behavior Therapy for Tics and Tourette Syndrome with Douglas Woods https://www.behaviourspeak.com/e/episode-39-behaviour-therapy-for-tics-and-tourette-syndrome-with-douglas-woods-phd/  Episode 137 Behavior Analysis and Fragile X Syndrome with Katerina Monlux https://www.behaviourspeak.com/e/episode-137-fragile-x-syndrome-with-dr-katerina-monlux/    

Join us on this episode of the Birth Journeys as Kara shares how she was treated in her first birth by medical staff led her to choose a different route for her second baby's birth.  This episode covers miscarriage, Fragile X Syndrome, hospital birth, uterine infection postpartum, midwifery care and homebirth.  Resources:  Birthing Instincts with Dr. Stu: https://open.spotify.com/show/5IYrdNqDATUbK7FDAk2EKc?si=2xrnnzyFTqy2RIax9LOx7w

"In the middle of every difficulty lies opportunity." – Albert EinsteinIs your business working for you? What happens to your business when you have to course correct or change direction?In this episode, we're talking with one of my favorite guests and humans, Kim Weldin. If you haven't met Kim Weldin yet, she's a certified integrator and virtual assistant coach on a mission to help women—especially moms—build thriving businesses while maintaining a life full of passion, self-care, and FUN! After spending 10 years as a special education teacher, Kim made the leap into entrepreneurship to create more flexibility for her family, particularly for her daughter, who requires multiple therapies due to Fragile X Syndrome and Autism. Starting out as a virtual assistant, Kim's entrepreneurial journey has been anything but ordinary. She's refreshingly candid about the highs and lows of business ownership and isn't afraid to get real about hitting rock bottom. Instead of following the typical industry advice, she forged her own path, embracing authenticity and resilience to build the thriving business she has today.Now, four years later, Kim is a certified integrator, helping female visionaries turn their big ideas into organized, actionable plans. From streamlining workflows to managing complex projects, Kim transforms chaos into clarity—always with a generous serving of fun, sass, and positivity. Beyond her integrator services, Kim is passionate about empowering women to step into the virtual assistant world. She's preparing to launch her first product, 7 Days to Launch: Your VA Business Action Plan, with a mission to help moms start their VA businesses for $47 or less. On top of that, she's also pouring her heart into The Soulful Balanced Journal, a side passion project that came to her serendipitously, designed to help women cultivate balance and well-being in their lives.As a neurodivergent mom, business owner, Jesus-loving, and a little woo woo, Kim embraces a holistic approach to life and work. This unique balance inspired her to create The Soulful Balanced Journal, a tool she developed to track her own sleep, mood, and spiritual practices, such as daily affirmations and intentions. The journal also features a space for reframing the mind and choosing daily micro-actions, leading to progress on an action board—her twist on a vision board.Today we talk about:What to consider when you come to a crossroads in your business How to navigate tough times and what to consider as you're deciding on your path forwardHow to detach your self-worth from your 'success' in businessThe importance of surrounding yourself with the right people (in life and business)What are Kim's favorite books so far in 2024I know whether you are experiencing the highs or lows of building your business you're going to find something helpful in today's episode! You can find Kim on Instagram at https://www.instagram.com/kimberlyweldin/Other Links You'll Love:My website: www.juliecalcote.comInstagram: juliecalcoteobmOBM Starter Kit from OBM School

Sarah Elizabeth a.k.a SE is 32 years old and is from Pennsylvania. She has a 3 year old son and works in corporate retail. SE went through IVF, not because of fertility issues but because she is a carrier for Fragile X Syndrome. SE was induced and delivered early due to preeclampsia, which ended up affecting her into postpartum. SE shares her birth story and discusses her postpartum experience. She was dealing with grief from losing her dog which contributed to her PPD. We discuss not bonding with your baby immediately and insecurities we hold as mothers. Getting help through therapy/medication and the judgment that sometimes goes along with that. Being a working mom and parenting struggles along with other mama related topics. I hope you enjoy listening to her story.

VIsit Nascentmc.com for medical writing assistance. Visit learnamastyle.com for freebies on medical writing and editing and ChatGPT. - Fasenra Pediatric Asthma Expansion: No details provided for this update. - Beqvez for Hemophilia B: FDA approved gene therapy, Beqvez, for adults with moderate to severe hemophilia B, which enables the production of clotting protein factor IX. This one-time treatment by Pfizer, derived from Spark Therapeutics, aims to replace frequent infusion therapies, demonstrating superior efficacy in a late-stage trial. - Anktiva for Bladder Cancer: Anktiva received FDA approval for treating BCG-unresponsive non-muscle invasive bladder cancer, enhancing NK and T cell proliferation. Based on a trial with 77 patients, it showed a 62% complete response rate, surpassing international clinical benchmarks, leading to its designation as a breakthrough therapy. - Pivya for UTI: FDA approved pivmecillinam (Pivya) for treating uncomplicated urinary tract infections caused by specific bacterial strains. This marks the first new antibiotic for such infections in the U.S. in over 20 years, backed by effective outcomes in three clinical trials. - Tovorafenib for Pediatric Low-Grade Glioma: Tovorafenib was approved for pediatric low-grade glioma patients with specific BRAF alterations, showing a 67% response rate in the FIREFLY-1 trial. It has been designated for accelerated approval due to its potential in treating these brain tumors. - Entyvio Maintenance for Crohn's Disease: Vedolizumab (Entyvio) received approval for subcutaneous administration as Crohn's disease maintenance therapy after initial intravenous induction. Supported by the VISIBLE 2 Study, it proved effective in maintaining clinical remission at 52 weeks. - Alecensa for NSCLC: Alecensa was approved as an adjuvant treatment post-tumor resection for ALK-positive non-small cell lung cancer. In the ALINA trial, it significantly extended disease-free survival compared to chemotherapy, particularly in early-stage patients. - SPG601 for Fragile X Syndrome: The FDA cleared SPG601 for a phase 2a trial in Fragile X Syndrome, addressing synaptic function through BK channel activation. This marks an advance for treating the core symptoms of the most common inherited intellectual disability. - Lumisight for Visualizing Breast Cancer: The FDA approved Lumisight and the Lumicell Direct Visualization System for use during lumpectomy surgeries to detect residual cancer tissues. This system, shown in the INSITE trial, improves surgical outcomes by reducing the need for second operations. VIsit Nascentmc.com for medical writing assistance. Visit learnamastyle.com for freebies on medical writing and editing and ChatGPT.

Actinogen Medical Ltd (ASX:ACW) CEO Steven Gourlay joins Jonathan Jackson in the Proactive studio to discuss the company's focus on neuro therapeutics and to review the highlights from the first half of the financial year. Steven brings a wealth of experience from the biotech industry, including as founding chief medical officer of Principia Biopharma Inc, which sold to Sanofi for $3.7 billion in 2020. Gourlay details the company's work in developing a novel therapy for neurological diseases associated with dysregulated brain cortisol. The company is developing its lead compound, Xanamem®, a new therapy for Alzheimer's Disease, Major Depressive Disorder, Fragile X Syndrome and other neurological diseases where reducing cortisol inside brain cells could have a positive impact. He takes us through current clinical trials, the company's strong financial position and outlines the strategic priorities for the next 18 months, giving investors an idea of what to expect moving forward. #ProactiveInvestors #ActinogenMedical #ASX #biotech #neurology #Xanamem #invest #investing #investment #investor #stockmarket #stocks #stock #stockmarketnews

BEHIND THE BUMP - Today we interview the candid Melissa Barker as she generously shares her story of secondary infertility, repeat miscarriages and a genetic diagnosis which led to a heart-wrenching risk. Hosts: La & Jayde Topics discussed: secondary infertility, recurrent miscarriage, emotional wellbeing, IVF, Fragile X Syndrome, TFMR (Termination For Medical Reasons). Have sex and get pregnant. It's easy right? Not for 1 in 6 of us. From the makers of Beyond the Bump, we bring you Behind the Bump. A place to share stories and shed light on miscarriage, IVF, infertility and more. If you're trying to conceive, if your friend is doing IVF, or if you love a moving story, Before The Bump is the podcast for you.  Join our Facebook group HERE Behind the Bump is proudly sponsored by Ovunet Fertility! I'm so happy to let our beautiful listeners know that Ovunet has given you all a 10% discount for your first treatment cycle!  The initial consultation is also free of charge and further appointments and testing are not only eligible for bulk billing but are shared with your current GP for seamless care. Exclusive BTB Ovunet link: https://www.ovunetfertility.com/btb

In Episode 137  Ben talks with Dr. Kat Monlux, a behavior analyst and Associate Professor at Oslo Metropolitan University whose primary areas of study include infants at risk of developmental disorders and behavior-analytic interventions for individuals with Fragile X Syndrome.  In this episode, Ben and Kat dive deep into her research in both areas.    Continuing Education Units (CEUs): https://cbiconsultants.com/shop BACB: 1.5 Learning  IBAO: 1.5 Learning QABA: 1.5 General Links: Loukia Tsami https://www.linkedin.com/in/loukia-tsami-bcba-42538159/ Hayley Neimy https://www.linkedin.com/in/hayley-neimy-phd-bcbad/   Articles Referenced Neimy, H., Pelaez, M., Carrow, J., Monlux, K., & Tarbox, J. (2017). Infants at risk of autism and developmental disorders: Establishing early social skills.Behavioral Development Bulletin, 22(1), 6–22. https://doi.org/10.1037/bdb0000046 Monlux, K.D., Pollard, J.S., Bujanda Rodriguez, A.Y. et al. Telehealth Delivery of Function-Based Behavioral Treatment for Problem Behaviors Exhibited by Boys with Fragile X Syndrome. J Autism Dev Disord 49, 2461–2475 (2019). https://doi.org/10.1007/s10803-019-03963-9 Neimy, H., Pelaez, M., Monlux, K. et al. Increasing Vocalizations and Echoics in Infants at Risk of Autism Spectrum Disorder. Behav Analysis Practice 13, 467–472 (2020). https://doi.org/10.1007/s40617-020-00413-2 Katerina Monlux, Martha Pelaez & Per Holth (2019) Joint attention and social referencing in children with autism: a behavior-analytic approach, European Journal of Behavior Analysis, 20:2, 186-203, DOI: 10.1080/15021149.2019.1644831   Hall, S.S., Monlux, K.D., Rodriguez, A.B. et al. Telehealth-enabled behavioral treatment for problem behaviors in boys with fragile X syndrome: a randomized controlled trial. J Neurodevelop Disord 12, 31 (2020). https://doi.org/10.1186/s11689-020-09331-4 Pelaez, M., Monlux, K. Development of Communication in Infants: Implications for Stimulus Relations Research. Perspect Behav Sci 41, 175–188 (2018). https://doi.org/10.1007/s40614-018-0151-z Martha Pelaez & Katerina Monlux (2017) Operant conditioning methodologies to investigate infant learning, European Journal of Behavior Analysis, 18:2, 212-241, DOI: 10.1080/15021149.2017.1412633   Monlux, Katerina D. MS*; Pollard, Joy S. PhD*,†; Bujanda Rodriguez, Arlette Y. MA*,†; Hall, Scott S. PhD*. Conducting In-Home Functional Analyses of Aggression and Self-Injury Exhibited by Boys with Fragile X Syndrome. Journal of Developmental & Behavioral Pediatrics 43(4):p e237-e245, May 2022. | DOI: 10.1097/DBP.0000000000001019 Vismara, L. A., McCormick, C. E. B., Wagner, A. L., Monlux, K., Nadhan, A., & Young, G. S. (2018). Telehealth Parent Training in the Early Start Denver Model: Results From a Randomized Controlled Study. Focus on Autism and Other Developmental Disabilities, 33(2), 67-79. https://doi.org/10.1177/1088357616651064 COPY CITATION    

In this episode, we review the high-yield topic of⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Fragile X Syndrome ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠from the Neurology section. Follow ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets --- Send in a voice message: https://podcasters.spotify.com/pod/show/medbulletsstep1/message

References Genes & Immunity 2021. volume 22, pages 125–140. Prz Menopauzalny. 2017 Jun; 16(2):51–56. J Neuroinflammation. 2016 May16;13(1):109. Am J Physiol Cell Physiol 2022. 322: C125–C135 Adv Human Genetics 1983.13:83 Ann NY Acad Sci . 1986. 477:129 Neurol Neurosurg Psychiatry.1943. 6:154 --- Send in a voice message: https://podcasters.spotify.com/pod/show/dr-daniel-j-guerra/message Support this podcast: https://podcasters.spotify.com/pod/show/dr-daniel-j-guerra/support

Fragile X Syndrome is the leading genetic cause of Autism. It's caused by a mutation of the FMR1 gene responsible for cognitive and behavioral development. Fragile X is often passed on unknowingly. The month of July is Fragile X Awareness Month! An opportunity to continue to spread more awareness of Fragile X, and celebrate the organizations like FRAXA Research Foundation and The National Fragile X Foundation and their efforts to support and find effective treatments for individuals living with Fragile X. It's also an important opportunity to spread awareness of Fragile X to those who may not have otherwise heard of it. In this week's episode, I talk about the importance of awareness month, as well as an EXCITING special announcement! Tune in to find out more!

Fetal geneticist Dr. Tamar Goldwaser and OB-GYN Dr. Nathan Fox dive into the nuances of carrier screening and why people might hesitate to receive them. Although uncommon, secondary findings are possible and a parent might find something unexpected in their own DNA from a genetic test. Additionally, the results of a genetic test could lead to difficult decisions like whether to consider IVF or freezing your eggs. In this podcast, they discuss the implications and possible next steps to consider for diseases like Fragile X Syndrome, Fabry disease, hemophilia, Gaucher disease, and other genetic mutations.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females. This month, we are featuring Fragile X syndrome. Fragile X Syndrome is a heritable X-linked disorder caused by an abnormality in the FMR1 gene. This gene makes the protein, FMRP, which plays a critical role in the development of nerve cells and the production of other cellular proteins. An issue in this FMR1 gene causes an absence or severe deficiency of the FMRP protein, resulting in a range of developmental problems and distinctive physical features. It typically results from a specific mutation, or alteration of DNA, that causes a CGG base repeat to occur over 200 times in the damaged FMR1 gene. Molecular genetic testing can be used to diagnose this condition by identifying the 200 CGG repeats in the FMR1 gene. Women with a fragile X premutation, or 55 to 200 repeats of the FMR1 gene, have an increased risk of having a child with fragile X syndrome.  Additionally, female fragile X premutation carriers may experience menstrual and menopausal abnormalities, infertility, diminished ovarian reserve, and chronic hypoestrogenism. Such chronic hypoestrogenism has been associated with impaired bone health and an increased risk of cardiovascular disease. Furthermore, female carriers of a fragile X premutation have been found to have neuropsychiatric issues including neuropathy, increased anxiety and depression, and tremor/ataxia syndrome. Some studies have also associated thyroid abnormalities and hypertension to fragile X syndrome in women.  Today, we are bringing on Maddy Forrer. Maddy lives on the Gulf Coast with her husband and their son. She is a wife, a mom, and an HR Professional! In her free time she loves going on beach walks, researching everything early intervention, and planning the next family vacation! Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.

Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females. This month, we are featuring Fragile X syndrome. Fragile X Syndrome is a heritable X-linked disorder caused by an abnormality in the FMR1 gene. This gene makes the protein, FMRP, which plays a critical role in the development of nerve cells and the production of other cellular proteins. An issue in this FMR1 gene causes an absence or severe deficiency of the FMRP protein, resulting in a range of developmental problems and distinctive physical features. It typically results from a specific mutation, or alteration of DNA, that causes a CGG base repeat to occur over 200 times in the damaged FMR1 gene. Molecular genetic testing can be used to diagnose this condition by identifying the 200 CGG repeats in the FMR1 gene. Women with a fragile X premutation, or 55 to 200 repeats of the FMR1 gene, have an increased risk of having a child with fragile X syndrome.  Additionally, female fragile X premutation carriers may experience menstrual and menopausal abnormalities, infertility, diminished ovarian reserve, and chronic hypoestrogenism. Such chronic hypoestrogenism has been associated with impaired bone health and an increased risk of cardiovascular disease. Furthermore, female carriers of a fragile X premutation have been found to have neuropsychiatric issues including neuropathy, increased anxiety and depression, and tremor/ataxia syndrome. Some studies have also associated thyroid abnormalities and hypertension to fragile X syndrome in women.  Today, we are bringing on Evelyn Gee. Evelyn is a symptomatic carrier of fragile X syndrome and lost her sister to fragile X-associated tremor/ataxia syndrome (FXTAS). She works as a fitness specialist for a corporate wellness company and says exercise has always been helpful for her. She has a passion for aerial dance. Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.

Welcome to our The Cure is conversation , where the goal is to provide our listeners with the latest and most effective strategies for promoting mental well-being. The Cure is conversation mission is helping  you take care of your mental health because is just as important as taking care of your physical health, and this podcast is here to support you on that journey. However, in order to access all of the valuable resources and information that we offer, we do require a paid subscription. This subscription will give you access to our full archive of articles, expert advice, and community forums, where you can connect with like-minded individuals who are also on their own mental health journeys. The Cure is conversation  team understand that the idea of a paid subscription may seem daunting, but we promise that it is well worth the investment in your mental health and happiness. Join QueenB.Divine as she speak to Family, Faith, and Fragile X: The Raw Story of a Mother With Three Special Needs Children. Kirsten Fowler Are you a carrier of Fragile X Syndrome? Do you have a child or loved one with Fragile X Syndrome? This honest and raw book will allow you to see through new eyes the challenges and joys of life in the Fragile X world. I don't have all the answers, but I'm writing this book for those that want to see someone walking the same road, finding joy in an arduous journey, and sharing experiences for others to learn from. This is the first book to go through what it is like to be a carrier of Fragile X Syndrome with all its challenges while also addressing the overwhelming task of raising special needs children at the same time. Please visit our sponsors page @henrycameronallen https://www.henryallen.org/podcast --- Send in a voice message: https://podcasters.spotify.com/pod/show/queen91/message

The phase 2A trial has its detractors despite positive animal results and is being sponsored by a company that is struggling financially.

The phase 2A trial has its detractors despite positive animal results and is being sponsored by a company that is struggling financially.

In this episode, we review the high-yield topic of Fragile X Syndrome ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠from the Pediatrics section. Follow ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets

Kirsten Fowler is the author of Family, Faith, and Fragile X: The Raw Story of a Mother With Three Special Needs Children. She resides in Utah with her husband and four children, three of which have Fragile X Syndrome. She loves music, art, theater, and occasional adventures. Amidst her challenges, she tries to laugh rather than cry, has a good sense of humor, and shares her experiences to help others find hope and joy. https://kirstenfowler.com This is my website where listeners can find a direct link to my book on Amazon as well as a link to a list of hundreds of helpful items to purchase with link where to buy them. There are also more stories from my life to read there. Family, Faith, and Fragile X: The Raw Story of a Mother with Three Special Needs Children. (May 2022) Amazon Link: https://amzn.to/3RybkBG The Autistic Me: Blog: https://www.tameri.com/autisticme/ Podcast: https://autisticme.libsyn.com/ Facebook: https://www.facebook.com/autisticme/ Twitter: https://twitter.com/autisticme YouTube: https://www.youtube.com/c/CSWyatt LinkedIn: https://www.linkedin.com/company/autisticme  

My Big Dream seeks to provide vocational, spiritual, occupational, and emotional support, and future housing to enhance the lives of adults with intellectual and developmental disabilities.  My Big Dream was founded as a non-profit organization in June 2021 in New Bern, North Carolina. At My Big Dream the adults with IDD are called our ‘friends'.  Examples of IDD are Autism, Down Syndrome, Fragile X Syndrome and Fetal Alcohol Syndrome.    For most adults living with intellectual or developmental disabilities in Eastern North Carolina the opportunities for education and work are limited. Additionally, their parents or caretakers live with the worry of who will take care of them when the time comes where care is too much for them or the parent(s) is to pass away.   ​ Currently, My Big Dream meets on one night a week at a local church and creates Holiday themed products, such as door hangers, Christmas ornaments. The First Friends and Family pop up sale occurred on Tuesday, October 19, and $800+ worth of merchandise was sold out within 45 minutes. My Big Dream has also made a cookbook that is for sale online, has partnered with OneHope Wineries and will host future pop-up shops to sell items.  Donate by clicking on this link: https://dashboard.givebutter.com/accounts/79343/home OR text Psalm139 to 53555   www.mybigdream.us  

Today's episode features a Product Specialist at iMotions, Dr. Pernille Bülow. iMotions is a fully-integrated, hardware-agnostic software platform that allows researchers to use the power of any neuroscience technology, as well as traditional surveys and focus groups, to gain unparalleled insight into what people actual think and feel. Their customers use iMotions for everything from diagnosis of neurological diseases such as Parkinson, Schizophrenia, Autism and Alzheimers to personnel training, UX testing, advertising and military human research. At iMotions, Pernille consults and trains academic and commercial researchers on multimodal biometric data collection and study design. Pernille finished her BS at UC Berkeley and completed her PhD in Neuroscience at Emory University where she studied brain mechanisms associated with the neurodevelopmental disorder Fragile X Syndrome. Pernille is passionate about sharing her knowledge to help others create ground-breaking science.We talked about the use of biosensors in development (particularly in infants), some examples of where tools like eye tracking can be applied in mental health research, and how this technology can help the neurodivergent and neurotypical thrive. Listen in to learn more. Links of interest: Register for the iMotions client webinar: Biosensors in mental health research  - https://attendee.gotowebinar.com/register/7812277932273402896?source=podcastiMotions blog: Bringing Mental Health to the Forefront https://imotions.com/blog/learning/product-news/bringing-mental-health-to-the-forefront/iMotions: Emotion AI & Biosensors in Mental Health Research:  https://podcasts.apple.com/us/podcast/imotions-emotion-ai-biosensors-in-mental-health-research/id1458361251?i=1000585494254How eye trackers can help us understand mental health issues around performance anxiety: https://smarteye.se/blog/how-eye-trackers-can-help-us-understand-mental-health-issues-in-performance-anxiety/

Fragile X Syndrome is the most common inherited form of intellectual disability, and the most common single gene cause of Autism Spectrum Disorder. It is also responsible for some cases of premature ovarian insufficiency. Do you recall the difference between a Fragile X “pre-mutation” versus the full mutation? Should we do universal screening for this as part of expanded maternal carrier testing, or should this be a targeted screening approach? Although we covered maternal carrier screening on November 4, 2022, this episode will go into much more detail, focusing specifically on Fragile X Syndrome and who should be screened for this. (For Emma…Great question! Thank you for reaching out to us).

(01:11)Dr. Hasadsri, could you provide us with an overview of what carrier screening is?(02:28)Can you really expand on why these tests are important?(05:25)So in your experience, who could benefit from carrier screening and when should that testing be performed?(06:45)Can you just share how does a healthcare provider order carrier screening and then secondarily what sample types are accepted?(08:05)Can you share what are some of the unique features of our testing that sets the Mayo Clinic Laboratories apart?(10:36)So the last question I have is could you just summarize the benefits of doing carrier screening at Mayo?

Today's episode features a Product Specialist at iMotions, Dr. Pernille Bülow. iMotions is a fully-integrated, hardware-agnostic software platform that allows researchers to use the power of any neuroscience technology, as well as traditional surveys and focus groups, to gain unparalleled insight into what people actual think and feel. Their customers use iMotions for everything from diagnosis of neurological diseases such as Parkinson, Schizophrenia, Autism and Alzheimers to personnel training, UX testing, advertising and military human research. At iMotions, Pernille consults and trains academic and commercial researchers on multimodal biometric data collection and study design. Pernille finished her BS at UC Berkeley and completed her PhD in Neuroscience at Emory University where she studied brain mechanisms associated with the neurodevelopmental disorder Fragile X Syndrome. Pernille is passionate about sharing her knowledge to help others create ground-breaking science.We talked about Emotion AI in mental health applications, the role of biosensors in mental health research and where this technology is heading in the future. Listen in to learn more. Links of interest: Register for webinar: iMotions client webinar: Biosensors in mental health research here  - https://attendee.gotowebinar.com/register/7812277932273402896?source=podcast Smart Eye blog: https://smarteye.se/blog/Follow Rana on LinkedIn to watch the Livestream: https://www.linkedin.com/in/kaliouby/ iMotions: Bringing Mental Health to the Forefront: https://imotions.com/blog/mental-health-focus/v

Welcome to Rad Mom Radio!This week Natalie is joined by Kirsten Fowler - author of Family, Faith, and Fragile X. In this episode, Kirsten shares her story of being a Fragile X carrier and raising three children with Fragile X. You can find out more about Kirsten and her book on her website - www.kirstenfowler.com - you can also find her book on Amazon.Thank you for listening!

Based on this measure, over three million children (4.3% of the under-18 population) in the United States had a disability in 2019, up 0.4 percentage points since 2008, according to the US Census Bureau. For Kirsten Fowler: “I am a mother of four children. Three of them have special needs from a genetic factor called Fragile X Syndrome. It is the most known cause of inherited autism. This syndrome also affects carriers like me. Through chronic illness and mental health issues I have been able to find joy and fulfillment raising my children. I am also blessed to have a loving relationship with my husband that sticks with me through it all. I have an educational background in family life and enjoy talking about family, Christianity, Fragile X Syndrome, and special needs in general. I want to share my book with others so that they can find hope in difficult circumstances and help them not feel alone in their journey. In my book and in general, I speak on various topics from special education, therapy and ABA for children, special vacations, mental health, and more.” She joined me this week to tell me more. Get the Book: https://www.amazon.com/Family-Faith-Fragile-Special-Children-ebook/dp/B09ZF19C9K For more information: https://kirstenfowler.com/

About a year ago, I had the pleasure of meeting Andrea when she reached out to me on social media one day. We ended up connecting on a phone call and talked about life, family, faith, and of course Fragile X for over an hour! Since then, we talked about continuing our conversations on a future podcast episode. However, life got busy for both of us, and Andrea and her husband welcomed a precious baby girl to their now family of 5. The timing of us getting together to do this episode could not have been better! I'm so grateful for Andrea and her amazing perspective she shares as a mom of three, with one whom has full-mutation Fragile X Syndrome. You don't want to miss this episode!

Dr. Mark D. Shen (University of North Carolina, Chapel Hill) discusses the trajectory of brain development in infants at risk for autism spectrum disorder (ASD) and fragile X syndrome.  Longitudinal imaging was captured from 6 to 24 months to see how brain development differed between groups, and the development of the amygdala in infants at risk for ASD prior to onset of social deficits and clinical diagnosis. Shen interview [01:03] Why look at patients with potential ASD diagnosis in conjunction with fragile X syndrome patients? [04:20] Why are differences in brain structure important? [05:46] What's the advantage of earlier diagnosis of ASD? [08:16] What's next for your research? [09:48] Kalin interview [11:47] Shen et al. [12:09] Girault et al. [15:30] Gerlach et al. [19:13] Mosholder et al. [22:12] Summary [25:31] Be sure to let your colleagues know about the podcast, and please rate and review it on Apple Podcasts, Google Podcasts, Stitcher, Spotify, or wherever you listen to it. Transcript Subscribe to the podcast here. Listen to other podcasts produced by the American Psychiatric Association. Browse articles online. Watch Deputy Editor Daniel S. Pine, M.D., present highlights from the August 2022 issue of AJP. How authors may submit their work. Follow the journals of APA Publishing on Twitter. E-mail us at ajp@psych.org

Join us as I interview Kirsten Fowler mom of four children, and author of the book Family, Faith & Fragile X. Kirsten tells us all about what is like to raise three children with Fragile X Syndrome. Why she decided to write her book and share her story. Book can be found @ https://www.amazon.com/Family-Faith-Fragile-Special-Children-ebook/dp/B09ZF19C9K https://www.barnesandnoble.com/w/family-faith-and-fragile-x-kirsten-fowler/1141735489 Find Kirsten Fowler @https://kirstenfowler.com/ If you would like to be a guest on Fragile X Dad & Mom Podcast email @ourfragilexlife@gmail.com

Cognition is, according to the Oxford dictionary, the “mental action or process of acquiring knowledge and understanding through thought, experience, and the senses.” In simpler terms, cognition is basically how we think. But what determines how we think? There has to be some influence from the environment. After all, the experiences we have can shape what we remember, and basically how we perceive the world. That can't be the only thing though, because cognition comes from the brain, and our brains are made with the genetic information we get from our parents. How in the world can we even start to look at this question? Cognition is a very complicated process. There are many specific mechanisms involved, and multiple levels where things can go wrong. To learn about normal cognition, scientists will often look at cognitive disorders. By understanding more about where things go wrong, they can use that information to gain insight into cognition in general, and even try to develop treatments.

As we continue Fragile X Awareness Month, I think fear & anxiety as it relates to being a carrier of Fragile X Syndrome is so important to talk about and encourage one another in! It's not always easy for me to be open about the effects of Fragile X in my life, but I hope it will encourage even just one listener! Awareness is not just for a month, it's every day we wake up in the morning! Subscribe to Talk Fragile X Podcast and leave your review on Apple Podcast.

Why have experimental therapies for fragile X syndrome not worked? Then, antibiotics are great, but only when they're actually needed. Plus, don't try to vape your daily vitamins. And finally… allergies could save you from contracting Covid.   Learn more at: https://radiohealthjournal.org/medical-notes-july-3-2022/

Fragile X Awareness Month is here! For the whole month of July, we are going to be releasing weekly episodes in effort to be a part of supporting, educating and creating more awareness of Fragile X Syndrome! I'm so excited to kick off awareness month joined with my husband Moe! We talk about what it means to be an advocate, female full-mutation carrier, National Fragile X Conference, and much more! Share Talk Fragile X podcast with your friends, family, educators, neighbors, etc.! Help us make this an impactful awareness month of 2022!!

Special Guest Alert! We are thrilled to have Charley Qaqa on the podcast with Brittney today. Charley has three children, two diagnosed with Fragile X Syndrome, a genetic disorder closely related to autism. She and her family have also lived outside the United States and experienced special needs services abroad. Charley talks about the early years, life in Fiji, and the decision to move back to the United States. She explains Fragile X Sydrome so well, we really appreciate her insights and willingness to open us and share her story. Learn more about Fragile X Syndrome: https://fragilex.org/ Instagram: @momstalkautism Email: hello@momstalkautism.com    

Brian Doerksen is a songwriter, recording artist, conference speaker, and songwriting instructor, but most of all he loves spending time with his high-school sweetheart Joyce (they have been married for 36 years.) Brian & Joyce have 4 daughters and 2 sons with Fragile X Syndrome. His songs are known and sung in faith communities around the world including ‘Come now is the time to worship', ‘Refiner's Fire', ‘Hope Of The Nations', and ‘The River.' On today's episode, Brian and John talk about Brian's long and distinguished career as a singer-songwriter. They also discuss several of Brian's classics and how they came to be. The episode concludes with Brian performing an acoustic version of ‘Everlasting Arms.'   HERE'S WHAT YOU'LL GET ON TODAY'S EPISODE 07:30 Looking back at the decades of being in worship  11:56 The backstory of ‘Refiner's Fire' 22:53 Songs as a companion for life 28:45 Brian's perspective on being ‘vibrant' despite the hardships he has faced 32:22 Brian introduces and performs an acoustic version of ‘Everlasting Arms'   WE HOPE THIS SONGWRITING TIP HELPS YOU Brian says, “I spend a good portion of my passion investing in and encouraging other writers. I desperately need other people's songs because I know I'm not going to write all the songs."   CONNECT WITH BRIAN DOERKSEN Website - https://www.briandoerksen.com/ Instagram - https://www.instagram.com/briandoerksen/ Twitter -  https://twitter.com/briandoerksen   CONNECT WITH NASHVILLE CHRISTIAN SONGWRITERS Nashville Christian Songwriters - www.nashvillechristiansongwriters.com  Kingdom Songwriter Academy - www.kingdomsongwritersacademy.com   Facebook - www.facebook.com/nashvillechristiansongwriters/  Instagram - www.instagram.com/nashvillechristiansongwriters/  Twitter - twitter.com/NCSsongwriters    SUBSCRIBE TO THE SONG REVOLUTION PODCAST Apple Podcasts - https://podcasts.apple.com/in/podcast/song-revolution-with-john-chisum/id1220274942 Spotify - https://open.spotify.com/show/7Ayzw23YSLcqV4TZ96hGZ8  If you liked this episode, please don't forget to tune in, subscribe, and share this podcast!   ABOUT THE SONG REVOLUTION PODCAST The Song Revolution Podcast exists to empower you through valuable songwriting insights, inspiration, and interviews with some of the greatest songwriters, producers, arrangers, artists, and creatives in the industry and beyond. Find out more at nashvillechristiansongwriters.com

In this episode Natalie is joined by her friend Erika who is the mom of two kids with Fragile X Syndrome. Erika discusses how her kids were diagnosed and how differently Fragile X affects her children.If you would like to be a guest on Rad Mom Radio you can send Natalie an email at radmomradio@gmail.com

This week, we're celebrating motherhood: the messy, the funny, the sad, and the profound.  First, an interview with Jewish Fertility Foundation's Elana Frank, host of the podcast Fruitful and Multiplying. Then we talk to comedian Ester Steinberg about her postpartum comedy special, Burning Bush. We also hear from Rabbi Ilana Garber about her son's diagnosis of Fragile X Syndrome, and Unorthodox producer Robert Scaramuccia shares a moving story about his mother. We love to hear from you! Send us your emails and voice memos at unorthodox@tabletmag.com, or leave a voicemail at our listener line: (914) 570-4869. Remember to tell us who you are and where you're calling from.  Subscribe to our weekly newsletter to get new episodes, photos, and more. Join our Facebook group, and follow Unorthodox on Twitter and Instagram. Get a behind-the-scenes look at our recording sessions on our YouTube channel. Upcoming events: May 15, 2022 - Mark Oppenheimer will be discussing his book, Squirrel Hill: The Tree of Life Synagogue Shooting and the Soul of a Neighborhood at Temple Beth Israel in Skokie Illinois. 10 a.m. Central; tickets here.  May 22. 2022 (virtual) — Stephanie Butnick will be in conversation with authors Gary Shteyngart and Claire Stanford as part of the Jewish Book Council and the Jewish Museum's Unpacking the Book series. 7 p.m. Eastern; register here.   May 25, 2022 — Mark, Stephanie, and Liel will be live in New York City for Central Synagogue's Shavuot Boot Camp with Abigail Pogrebin. 5:30 p.m. Eastern; register here Get all our events info at tabletmag.com/unorthodoxlive. Get your copy of The Tab, Tablet's free, printable weekly digest, at tabletm.ag/tab.  Want to book us for a live show or event in your area, or partner with us in some other way? Email tabletstudios@tabletmag.com. Unorthodox is produced by Tablet Studios. Check out all of our podcasts at tabletmag.com/podcasts. Learn more about your ad choices. Visit megaphone.fm/adchoices

This week's episode is a special one!! I'm sure so many of you have seen the news of the change in name of the FMR1 gene responsible for Fragile X Syndrome! This has been a long time coming! I'm looking forward to how this positive step forward creates a more appropriate and factual description of Fragile X Syndrome and moving away from the negative connotations. In this episode, I talk about the history of the FMR1 gene, why this is an important step forward as a female full-mutation carrier, and much more! You don't want to miss this episode!!!

It's Autism Awareness Month!! On this week's episode of Talk FX, we not only discuss the mission of Autism Awareness Month, but we also break down what Autism is and how individuals with Fragile X Syndrome are often co-diagnosed with Autism. I also share a bit of my 13-year-old cousin's journey of being diagnosed with both Autism and full-mutation Fragile X. You don't want to miss this episode!

Christy and Chris are both in high school education and have incredible perspective on what is happening in the lives of high schoolers these days. In addition, they are parents of 3 - a son in junior high and a set of twins in elementary school. Their son was diagnosed with Fragile X Syndrome as a 2 year old, and they share the highs and lows of that experience. They talk honestly about what it was like having 3 kids under the age of 3. While it was a lot there is a very helpful viewpoint they share - it goes by fast and don't spend so much time worrying!

On this weeks episode of Talk FX, I'm joined with Sara Knudson, a passionate mom of three children, with two of the three being affected by Fragile X Syndrome. Sara shares about her children's diagnosis stories, the struggles, the joys, and the amazing resources and support they have available in their home state of Illinois! It was such a pleasure to have Sara on Talk FX! You don't want to miss this episode!

Cissy talks about a very busy little guy with whom she was lucky enough to work.  This young boy was diagnosed with Fragile X Syndrome.  In the episode, she talks about the doctor saying that his self-injurious and aggressive behaviors were linked to his Fragile X diagnosis.  Please note that not all individuals with Fragile X Syndrome are self-injurious or aggressive.  In fact, many do not show any aggression. This was the opinion of that doctor at that time.  Stephen (as she calls him in the episode) taught her as much as she taught him.  Have a listen and stay for the ABA question at the end.

April is Child Abuse and Child Sexual Abuse Awareness Month. Nichole Moehring and her family have weathered the storm of child sexual abuse three times. Her son who is diagnosed with autism and Fragile X Syndrome had a very different level of support and resources than when her neurotypical daughter as they sought justice against the perpetrator. In this episode, Nicole shares their story, and tells us about the agency they created, Voices of Change 2018, which has the mission to build access to safety, healing and justice for sexually abused children with disabilities through advocacy, education and collaboration.  It's an interview that will make you want to take action.Links:Voices of Change 2018: Here Child Abuse Prevention Resource Guide: HereVoices of Change 2018 IG Page: HereLinks for The Landscape PagesLink to The Landscape FB PageLink to The Landscape Instagram PageLink to sign up News LetterLink to The Landscape LinkedIn

This episode covers fragile X syndrome.Written notes can be found at https://zerotofinals.com/paediatrics/genetics/fragilex/ or in the genetics section in the Zero to Finals paediatrics book.The audio in the episode was expertly edited by Harry Watchman.

Michael and Tempa Kohler are the cofounders of the non-profit organization, Special Kneads and Treats in Lawrenceville, Georgia. Michael and Tempa have two kids, Bradley and Ashley. Their son, Bradley, was born with Fragile X Syndrome and when he was 22 years old and aging out of the county supported programs, they were trying to ... more »